Can We Detect Congenital Abnormalities Earlier in Pregnancy

The Quality and Safety Challenge 2012

Improving quality and safety in maternity services: can we improve prevention, detection and management of congenital abnormalities in pregnancy?

Professor Cindy Farquhar, Nicola Arroll, Dr Lynn Sadler, Professor Peter Stone & Vicki Masson

PMMRC National Coordinator Services and the Department of Obstetrics and Gynaecology, University of Auckland

Acknowledgements

We are grateful to the following groups and individuals for their assistance in the production of this report.

• The Quality and Safety Challenge 2012 for providing the funding for the project.

• The lead maternity carers, general practitioners and District Health Board staff for providing the additional information.

• The ultrasound service providers, for supplying the ultrasound images.

• PMMRC national coordination service for providing guidance and assistance for collecting the additional data.

• Senior sonographer Jenny Mitchell who contributed her time and knowledge.

• Dr Sue Belgrave, Dr Tom Gentles and Dr Nicola Austin who undertook the peer review of the report.

Author contributions

• Professor Cindy Farquhar conceived and supervised the audit and provided revision of the report.

• Nicola Arroll collected and assembled the data, contributed to the data analysis and drafting and editing of the report.

• Dr Lynn Sadler was involved in the design of the study, provided analysis and interpretation of the data as well as revision of the report.

• Professor Peter Stone provided interpretation of the data and made contributions to the report.

• Vicki Masson was involved in the conception and design of the study and made contributions to and revised the report.

Executive summary and recommendations

The Perinatal and Maternal Mortality Review Committee (PMMRC) is responsible for reviewing and reporting on all perinatal deaths with a view to reducing these deaths. The data in this report relate to perinatal deaths from central nervous system, cardiovascular, and chromosomal congenital abnormalities in 2010 identified from the PMMRC dataset. The data only include deaths from 20 weeks gestation to 28 days after birth and therefore do not include miscarriages or terminations of pregnancy prior to 20 weeks, or surviving infants with these congenital abnormalities. It is an opportunistic dataset and likely includes all such perinatal deaths. However, in the absence of a register of all pregnancies and babies with congenital abnormalities it provides a “snapshot” of care to a group of mothers of babies with congenital abnormalities in New Zealand at this time.

Key Findings • First contact with a health professional in pregnancy was with a general practitioner in the majority of cases. First contact occurred within ten weeks in 74% of cases and within 14 weeks in 85%. However there was often a significant delay before booking with a lead maternity carer (LMC). • Folate supplements were documented as having been taken by 54% of women in the antenatal period and by 7% prior to pregnancy. • First or second trimester screening was offered to 75% of the women who presented prior to the cut off for screening. Of those women offered screening, 84% had some form of screening. • The time from referral to review by a maternal fetal medicine (MFM) specialist was a median of six days which is less than the week that is advised by the Maternal Fetal Medicine Network (Health Point 2012). • The time from decision for termination of pregnancy to the procedure was between one and 12 days with a median of two days. • Review of ultrasound images found some of the abnormalities could have been detected earlier.

Recommendations for pre-conceptual care

All women should receive pre-conceptual counselling • To optimise maternal health by identifying current medical conditions, prescription medications, smoking, alcohol and drug use and BMI and recommendation for pre-conceptual folate. • Education on nutrition, smoking cessation, alcohol and drug avoidance. • To identify risks including previous obstetric history, family history of congenital abnormalities in either parent and refer appropriately.

Folate use in women of reproductive age • Media campaign for pre-conceptual folate. • Investigate further evidence on fortification of bread with folate. Recommendations for antenatal care

• Education of all women is required about the importance of booking before 10 weeks. • As general practitioners are often the first point of contact for pregnant women, it is essential that they are able to effectively offer

o First trimester screening o Facilitate expeditious booking with an LMC.

• If screening has not already been arranged then LMCs should offer all women first and second trimester screening, as required by the Ministry of Health since 2010, as this strategy will enable early diagnosis of a proportion of congenital abnormalities.

Recommendations for screening programme

• Review the current algorithms used in New Zealand’s first and second trimester screening programme which is calibrated for Trisomy 21, and consider the cost benefit of using algorithms calibrated for maximal sensitivity for all chromosomal abnormalities. • Education for general practitioner and LMC regarding screening, counselling and interpretation of results. • Review the efficiency and adequacy of the program’s guidelines for reporting results for nuchal translucency in a patient who has not had a serum sample taken to avoid delays in reporting risk from the nuchal scan. • False negative screening tests should be reviewed by the screening unit. Recommendations for documentation • All LMCs should document pre-conceptual folate and antenatal folate use including when the woman commenced taking folate and the dose. • LMCs must be encouraged to comply with the legal requirement to retain a copy of the woman’s notes for ten years. This facilitates audit but is also important for ongoing clinical care. • Radiology services retain a copy of the ultrasound • Ultrasound reports should be comprehensive, in particular meet the minimum requirements of reporting.

Recommendations for ultrasound services • Ultrasound services provided by radiology and obstetric services should audit their images to ensure accurate measurements are obtained during scanning, in particular during the nuchal translucency scan.

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• Provision of real time images to radiologists who specialise in obstetric ultrasound and then referral to MFM service multidisciplinary teams to allow specialist review of images in areas that do not have these services.

Recommendations for referral to specialist services • Promote the current National Screening Unit referral guidelines regarding immediate referral to specialist services. • The National MFM Network should audit regularly time from referral to review in their service to ensure that the majority of women are seen within 7 days as recommended.

General recommendations • Enhancement of the current birth defects register to include congenital abnormalities where a perinatal death occurred.

Table of contents

Acknowledgements i Author contributions i Executive summary and recommendations ii 1. Introduction 1 2. Methodology 2 2.1 Audit of ultrasound services 3 2.2 Definitions 4 3. Findings 6 3.1 Documentation 6 3.2 Demographic details and substance use 6 3.3 Pre-conceptual and early pregnancy 8 3.3.1 Early pregnancy care and booking 8 3.3.2 Folate use 8 3.3.3 Medication use during pregnancy 9 3.3.4 History of congenital abnormalities and counselling 10 3.3.5 Date of first ultrasound 10 3.4 First and second trimester screening 11 3.5 Anatomy scan 14 3.6 Abnormality not detected until after fetal death or after birth 14 3.7 Pathway to diagnosis following detection of a possible fetal abnormality 14 3.7.1 Potential delays in the pathway to diagnosis 15 3.7.2 Other factors causing potential delays in the pathway to diagnosis 18 3.8.1 Documentation in the ultrasound audit 18 3.8.2 Potential to be detected earlier on ultrasound 19 3.8.3 Quality of the ultrasound machines 20 3.8.4 General quality issues identified from the ultrasound images 20 3.8.5 Comparison between the ultrasound reports and the images 21 3.8.6 Audit of the basic points that should be included in the ultrasound reports 21 4. Discussion 23 4.1 Documentation 23

4.2 Date of booking 24 4.3 Demographic and substance use 24 4.4 Folate use 24 4.5 Medication use during pregnancy 25 4.6 Pre-pregnancy and antenatal counselling 25 4.7 Date of first ultrasound 26 4.8 First trimester screening 26 4.9 Second trimester screening 27 4.10 Anatomy scan 27 4.11 Pathway following detection of a fetal abnormality 28 4.12 Potential to be detected earlier on ultrasound 28 4.13 Ultrasound audit findings 29 4.14 Strengths 29 4.15 Limitations 30 5. Recommendations from improving quality and safety in maternity services 31 5.1 Recommendations for pre-conceptual care 31 5.1.1 All women should receive pre-conceptual counselling 31 5.1.2 Folate use in women of reproductive age 32 5.2 Recommendations for antenatal care 33 5.3 Recommendations for screening programme 34 5.4 Recommendations for documentation 35 5.5 Recommendations for ultrasound services 36 5.6 Recommendations for referral to specialist services 37 5.7 General recommendations 38 General advice for women 39 Appendices 40 List of Abbreviations 43 Bibliography 44

List of Figures

Figure 1: Definitions of perinatal and infant mortality ...... 2 Figure 2: Pregnancy pathway for detecting fetal abnormalities ...... 7 Figure 3: Scatter plot of gestation at first health professional visit and gestation at booking . 8 Figure 4: Date of first ultrasound in index pregnancy ...... 11 Figure 5: Outcomes of first and second trimester nuchal translucency and serum screening among perinatal related deaths from congenital abnormalities 2010 ...... 13 Figure 6: Box plot of time from referral to being seen by MFM and Obstetrician ...... 15 Figure 7: Pregnancy pathway after fetal abnormality is suspected ...... 16 Figure 8: Gestation at confirmation of diagnosis by screening status among screen detectable congenital abnormality deaths ...... 17 Figure 9: Gestation offered termination (if termination offered) by screening status among women whose babies had screen detectable congenital abnormalities...... 17

List of Tables

Table 1: Maternal demographic data and substance use ...... 6 Table 2: Folate use pre-conceptually and antenatally ...... 9 Table 3: Table of history of congenital abnormality and counselling received ...... 10 Table 4: First and second trimester screening results by congenital abnormality group ...... 12 Table 5: Days between steps in the pregnancy pathway after fetal abnormality suspected . 15 Table 6: Outcome of the ultrasound image review ...... 19 Table 7: Quality of the ultrasound machines used ...... 20 Table 8: Comparison between the ultrasound images and the reports ...... 21 Table 9: Audit of quality of ultrasound reports ...... 22

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1. Introduction

In 2010 in New Zealand there were 704 perinatal deaths, 211 (30%) were due to congenital abnormalities. The Perinatal and Maternal Mortality Review Committee (PMMRC) has been charged with reducing perinatal mortality. Given that such a large proportion of perinatal deaths are the result of congenital abnormalities, it was considered important to review the care of mothers of babies with congenital abnormalities in order to assess the potential to reduce perinatal deaths from this cause. Deaths from congenital abnormality could be reduced in two ways; firstly by preventing lethal congenital abnormalities, and secondly, by detecting them as early as possible to facilitate earlier discussion of options of care. Further, there is potential improvement of postnatal care for babies with non-lethal congenital abnormalities from earlier diagnosis. Antenatal screening has been available in New Zealand since 1968 and was based on offering amniocentesis to pregnant women aged over 35 (National Screening Unit 2009). Although the woman’s age combined with amniocentesis continued to be a commonly used screening tool, pregnant women began to be offered blood tests and nuchal translucency scans in the late 1990s. In 2008 an ultrasound scan and blood test between 11 and 13 weeks gestation became the recommended screening combination. For women who were unable to access the first trimester screening a second trimester blood test between 14 and 20 weeks was also available. The first and second trimester screening risk estimates are primarily calibrated to identify an increased risk of Trisomy 21, it will in some cases identify other Trisomies and sex linked chromosomal abnormalities. The second trimester blood test will can also potentially identify open neural tube defects (NTDs). All women regardless of what screening they have had are eligible for an anatomy ultrasound scan at 20 weeks, where the fetal anatomy is checked for abnormalities. The screening programme and the anatomy scan should allow abnormalities to be identified early on in the pregnancy. Early detection gives parents options for treatment and allows children with additional needs or who require surgery to be born in centres where these services are provided. Early detection might also reduce the number of late terminations of pregnancy (after 20 weeks gestation) by providing parents with information about diagnosis and prognosis earlier in pregnancy. Late terminations are associated with increased risks to the mother including blood loss requiring transfusion and unplanned surgical removal of the placenta (Royal College of Obstetricians and Gynaecologists 2004). Furthermore, termination of pregnancy at this late stage of the pregnancy is associated with greater maternal distress. It also is associated with a requirement for statutory registration of death with the financial and emotional costs that may be associated with this for some parents. It was hypothesised that a number of congenital abnormalities could have been prevented if folate had been taken before pregnancy and by avoiding potentially harmful medications in the first trimester. It was also hypothesised that a number of chromosomal and NTD abnormalities could be detected earlier by undergoing antenatal screening in the first or second trimester. This project aimed to audit the quality of maternity care in women with perinatal deaths due to a congenital cardiovascular, central nervous system or chromosomal abnormality.

The specific objectives were to: i. Review booking and early pregnancy care including counselling for specific conditions, folate use, medication use and timing of first and booking visits. ii. Review first and second trimester screening uptake and findings. iii. Review the ultrasound detection of fetal abnormalities and the quality of the reports iv. Review timing of follow up after screening including after anatomy scan v. Consider the delays in the pregnancy pathway.

1. Methodology

Perinatal deaths from congenital cardiovascular, central nervous system or chromosomal abnormality during 2010 were identified from the PMMRC dataset. The PMMRC dataset of perinatal deaths is a compilation of data submitted by the Lead Maternity Carers (LMCs), clinicians, PMMRC DHB local coordinators, death notifications and some additional data from Births, Deaths and Marriages (BDM). The perinatal deaths presented in this report occurred between 1 January and 31 December 2010. For fetal deaths, the date of birth is used as ‘date of death’. For neonatal deaths, the actual date of death is used. Only babies who died from 20 weeks gestation up to 27 days after birth are included in this audit (as shown in the non-shaded parts of Figure 1). The classification system for cause of death that has been adopted by the PMMRC is the Perinatal Society of Australia and New Zealand (PSANZ) system of classification (PSANZ 2009). This system includes both perinatal and neonatal classifications. The PSANZ system of classification is hierarchical and congenital abnormalities being Category 1 take precedence over other categories. Perinatal deaths included in this audit were classified as central nervous system (PDC 1.1), cardiovascular (PDC 1.2) or chromosomal abnormalities (PDC 1.5).

Gestation Birth 7 days 28 days 1 year

20 weeks or more or 0<7 days 7–27 days 28 days–<1 year 400 grams birthweight Early Late Fetal deaths Neonatal Neonatal Post-neonatal deaths deaths deaths

Perinatal deaths Perinatal related deaths Neonatal deaths Infant deaths

Figure 1: Definitions of perinatal and infant mortality

The hospital notes, general practitioner (GP) notes and LMC notes were requested where applicable for each of the pregnancies included in the audit. The PMMRC practice is not to contact women and their families for information. An audit tool was developed to gather key demographic data and information on pregnancy care including dates of medical and maternity care, whether antenatal screening was offered, date of diagnosis and the timing and appropriateness of referral to specialists. This was piloted on a number of cases and improvements were made as appropriate. A data dictionary was developed in conjunction with the audit tool to ensure clarity of each data element name and definition. The notes for each of the women were reviewed and the data points for each woman entered into an Excel spreadsheet.

2.1 Audit of ultrasound services A review of ultrasound images and ultrasound reports was undertaken. Using the ultrasound reports included in the women’s notes we were able to identify women who had scans between ten weeks and when the abnormality was detected. Ten weeks was used as the cut off as it is the lower limit at which congenital abnormalities can be identified on ultrasound. Women who had an abnormality identified at their first scan after ten weeks were not included in the ultrasound audit (n=55/137 (40%)). We defined ‘abnormality identified at first scan’ by whether the woman was referred to a specialist due to an abnormality on the first ultrasound scan alone and the abnormality was demonstrated on all subsequent scans.

Static images for the ultrasounds were reviewed by one specialist with expertise in ultrasound and maternal fetal medicine using the Picture Archiving and Communication System (PACS) or in a DVD format. The reviewer was aware that the pregnancy had ended in a perinatal death due to congenital abnormality, however not of the type of abnormality or of the report of the original scan. None of the ultrasound scans that were reviewed had been reported by the reviewer.

The review assessed the ultrasound hardware in terms of quality and age of the machine used, identified from the manufacturer identifiers at the top and sides of the images. The machines were classified as:

• Good - including current generation high quality machines. • Midrange - including previous model range and current range when quality was not optimal. • Low quality - including portable machines. • Old machines - older than ten years. • Unknown.

Following this, the machine settings were analysed with respect to obstetric menu or package having been selected, time gain compensation (TGC), focus, gain and zoom functions. It was not always possible to determine if harmonics were being used. Placement of callipers and other measuring tools were recorded. The images were assessed in terms of completeness of scan survey, defined as views which would be considered necessary as per

the Australasian Society of Ultrasound In Medicine standards (ASUM 2005; ASUM 2005; ASUM 2008). The scan survey and images were assessed as:

• Complete. • Adequate views not obtained and therefore incomplete. • Equivocal, where due to lack of clarity of images or measures it was not possible to conclude that the scan was complete,

The reviewer was then asked to comment whether there was an abnormality or not on the images seen. The information provided by the reviewer was entered into a template that contained the date of each scan, the type of scan and whether the reviewer was able to identify the abnormality in an earlier scan and comments about the scan itself.

Ultrasound reports were reviewed for all 131 ultrasound scans found, whether the image itself was received or not. This meant that facilities that did not retain images were included at least partly in the audit. The 131 scans were separated into five broad groups; i.e. dating scans, nuchal translucency scans, other pre anatomy scans (failed nuchal translucency scans, investigation of vaginal bleeding and scans when an anomaly was suspected), anatomy scans and post anatomy scans.

Criteria were developed for each broad group of scans that outlined what the minimum requirements were and what would ideally be included. These criteria used the policies developed by the Australasian Society for Ultrasound in Medicine (ASUM) in conjunction with input from experts within the radiological field (ASUM 2005; ASUM 2005; ASUM 2008). The criteria covered a range of factors that varied depending on the type of scan and included specific measurements, fetal anatomy, maternal anatomy, placenta location, fetal well-being and the identification of sonographer and radiologist. The criteria were then tested for appropriateness and reviewed by an expert within the radiological field. Each report was evaluated to see whether it met the minimum requirements. Once the evaluation of the images was completed, the reviewer’s comments were compared with the findings in the ultrasound report. Each of the image-report pairings were classified as either ‘not substantially different’ or ‘different’.

2.2 Definitions The best estimated date of delivery (EDD) was calculated using the last menstrual period (LMP) unless this differed from an ultrasound EDD by more than 7 days at less than 20 weeks of gestation, or by greater than 2 standard deviations at greater than 20 weeks of gestation, as per the Australasian Society for Ultrasound in Medicine (ASUM) guidelines (ASUM 2001). Understanding the optimal pregnancy pathway is central to understanding the findings from this research and therefore an ideal pregnancy pathway is outlined in Figure 2. This figure has a focus on preventing and detecting central nervous system, cardiac and chromosomal abnormalities although it is applicable to all pregnancies. The figure shows the steps that should occur from the pre-conceptual period up to 22 weeks by which time a majority of congenital abnormalities should have been detected.

Detectable by screening is used to describe congenital chromosomal abnormalities and NTDs that might reasonably result in an increased risk using current first and second trimester screening. Conditions defined as detectable by screening in the first trimester were anencephaly (on ultrasound only), Triploidy, Trisomies, Turner’s syndrome and Klinefelter's Syndrome on combined first trimester screening. Spina bifida is only detectable by second trimester screening which has the potential to detect open NTDs.

2. Findings

One hundred and thirty seven perinatal deaths in 2010 were identified and confirmed as due to central nervous system (n=35 (26%)), cardiovascular system (n=29 (21%)) or chromosomal abnormality (n=73 (53%)). Appendix 1 outlines the specific abnormalities included in the audit.

3.1 Documentation LMC clinical notes for six women were not able to be collected as they had either been given to the woman or the midwife had left the country. In three of these cases there was no specific reason for the LMC not to retain a copy of these notes. These six mothers were still included in the audit and there was some information available about their pregnancy in the general practitioner and hospital notes.

3.2 Demographic details and substance use The majority of the demographic data shown in Table 1 reflects the demographic makeup of New Zealand although median BMI1 was higher for women with a baby with a central nervous system abnormality but this difference was not statistically significant (p=0.13). Table 1: Maternal demographic data and substance use Perinatal death classification (PSANZ PDC) Central nervous Cardiovascular Chromosomal Total system 1.1 system 1.2 1.5 n=35 n=29 n=73 n=137 n % n % n % n % Prioritised ethnicity Maori 8 22.9 5 17.2 9 12.3 22 16.1 Pacific Peoples 9 25.7 1 3.4 13 17.8 23 16.8 Indian 0 0.0 0 0.0 2 2.7 2 1.5 Other Asian 1 2.9 7 24.1 8 11.0 16 11.7 Other 1 2.9 5 17.2 6 8.2 12 8.8 NZ European 16 45.7 11 37.9 35 47.9 62 45.3 Mother's age <20 4 11.4 2 6.9 2 2.7 8 5.8 20-24 12 34.3 10 34.5 9 12.3 31 22.6 25-29 8 22.9 5 17.2 10 13.7 23 16.8 30-34 5 14.3 9 31.0 17 23.3 31 22.6 35-39 5 14.3 3 10.3 21 28.8 29 21.2 40+ 1 2.9 0 0.0 14 19.2 15 10.9 BMI (median (IQR)) 29.4 (21.7-34.6) 23.1 (20.5-28.7) 24.3 (21.9-27.4) 24.9 (21.6-31.2) Substance Use Alcohol 1 2.9 5 17.2 8 11.0 14 10.2 Marijuana 1 2.9 3 10.3 0 0.0 4 2.9 Smoking 8 22.9 9 31.0 11 15.1 28 20.4

1 BMI was measured based on the weight of the women at the earliest point during the pregnancy. 6

Figure 2: Pregnancy pathway for detecting fetal abnormalities

3.3 Pre-conceptual and early pregnancy

3.3.1 Early pregnancy care and booking Figure 3 shows the association between gestation in weeks at which the mother was first seen by a health professional on the x axis compared to the gestation in weeks when she booked with a LMC on the y axis. Horizontal and vertical lines are shown at 10 weeks (when booking is advised) and 14 weeks (final gestation for first trimester screening). Overall 114 women (83%) were seen by a health care provider before 14 weeks, while only 90 women (66%) booked with a LMC before 14 weeks. Only 30 (22%) of women had their first contact with a self employed LMC, while 93 (68%) had their first pregnancy contact with a GP. Eight were first seen in hospital or by a nurse at school, while first contact was unknown for seven women. Ninety seven (71%) of women booked with a self employed LMC, 35 (26%) with a hospital, and one with a general practitioner. Booking practitioner was unknown or booking did not occur for the remaining four women.

Scatterplot of gestation at booking vs gestation first health care contact 40 ) s k

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g n i k o

o 20 b

t a

n o i t a t

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0 0 5 10 15 20 25 30 35 Gestation at first health care contact (weeks)

Figure 3: Scatter plot of gestation at first health professional visit and gestation at booking

3.3.2 Folate use Seventy four women (54%) overall were recorded as taking antenatal folate and 9 (7%) as taking folate pre-conceptually. Of the 21 whose babies who were diagnosed with NTDs (congenital abnormalities amenable to folate use) 13 out of 21 (62%) were recorded as taking antenatal folate and 1 out of 21 as taking pre-conceptual folate.

Table 2: Folate use pre-conceptually and antenatally

Perinatal death classification (PSANZ)

Central Nervous Cardiovascular Chromsomal 1.5 Total System 1.1 System 1.2 Folate use n=35 n=29 n=73 n=137 n % n % n % n % Taking folate pre-conceptually Yes 3 8.6 2 6.9 4 5.5 9 6.6 No 11 31.4 2 6.9 8 11.0 21 15.3 Unknown 20 57.1 25 86.2 62 84.9 107 78.1 Taking folate antenatally 0.0 Yes 23 65.7 14 48.3 37 50.7 74 54.0 No 9 25.7 2 6.9 2 2.7 13 9.5 Unknown 3 8.6 13 44.8 34 46.6 50 36.5

3.3.3 Medication use during pregnancy Of women in the audit 59 (43%) took at least one prescription medication at some time during pregnancy prior to a fetal abnormality being detected. Of the 124 medications taken 47 had a pregnancy category of A2, 20 were categorised as B13, five were categorised as B24, 14 were categorised B35, 26 were classed as C6, two were categorised as D7 and ten of the medications had no pregnancy category (MIMS 2011). These pregnancy categories are based on the Australian Government’s Therapeutic Goods Administration categorisations (MIMS 2011). One of the medications that were categorised as D was Depo provera which was administered in the pregnancy of a baby with a chromosomal abnormality. The second medication that was categorised as D was Paroxetine which was taken during the pregnancy

2 Category A Drugs which have been taken by a large number of pregnant women and women of childbearing age without any proven increase in the frequency of malformations or other direct or indirect harmful effects on the fetus having been observed

3 Category B1 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in animals have not shown evidence of an increased occurrence of fetal damage.

4 Category B2 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in Animals are inadequate or may be lacking, but available data show no evidence of an increased occurrence of fetal damage.

5 Category B3 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in animals have shown evidence of an increased occurrence of fetal damage, the significance of which is considered uncertain in humans.

6 Category C Drugs that, owing to their pharmacological effects, have caused or maybe suspected of causing harmful effects on the human fetus or neonate without causing malformations. These effects may be reversible.

7 Category D Drugs that have caused, are suspected to have caused or may be expected to cause an increased incidence of human fetal malformations or irreversible damage. These drugs may also have adverse pharmacological effects.

of a baby with spina bifida. A complete list of the medications taken, their categories and the number of women taking them is included in Appendix 2.

3.3.4 History of congenital abnormalities and counselling Of women in the audit, 36 (26%) had a history of congenital abnormalities that could be linked to the three types of congenital abnormalities that were included in the audit. Relevant abnormalities were defined as those that were known to recur due to inheritance or where there was an association with a known abnormality. The relevant history was a previous baby with a congenital abnormality (11%), a family history of congenital abnormality (12%) and the mother herself having a congenital abnormality (4%). Of these 36 women only 25% had evidence in their clinical notes of having received counselling regarding the effect this history may have on the pregnancy. Table 3 summarises these data. Given that most notes reviewed focused on the months leading up to the pregnancy and the index pregnancy, the counselling figures are likely to have under reported any counselling that occurred soon after a prior pregnancy or at an earlier time.

Table 3: Table of history of congenital abnormality and counselling received Type of congenital abnormality Previous baby with Mother has a Family history of congenital congenital congenital abnormality abnormality abnormality n=15 n=5 n=16 Counselling n % n % n % Received counselling from GP 1 6.7 − − − − or LMC Counselling from specialist 3 20.0 3 60.0 2 12.5 (Obs, MFM, Genetics*) *Obs=obstetrician, MFM= Maternal fetal medicine specialist

3.3.5 Date of first ultrasound Fifty seven women (42%) had their first ultrasound scan within the first 10 weeks of pregnancy, and 102 (74%) within the first 14 weeks. Seventeen women (12%) had the first ultrasound at 20 weeks or beyond. Three women are excluded from these data as the date of their first ultrasound was not available.

Gestaton at first ultrasound scan 60

40 t n 30 o u C

0 <10weeks 10-13 weeks 14-19 weeks 20-23 weeks >=24 weeks Gestation groups

Figure 4: Date of first ultrasound in index pregnancy

3.4 First and second trimester screening First and second trimester screening are reported together here as only 17 women had second trimester serum testing and some of these had also had a first trimester nuchal translucency scan. Of the 137 women in the audit, 116 presented prior to the cut off for first trimester screening (13 weeks and six days). A further 13 women presented between 14 and 19 weeks. Of these 129 women who presented early in their pregnancy 97 (75%) were offered first or second trimester screening. Fifteen of these women declined to have screening (includes women who were given an ultrasound request form but subsequently did not have a nuchal translucency or bloods done). Seventeen of the 137 women (12%) had second trimester screening blood tests. Of these, four had no first trimester screening. One of these women had booked prior to 14 weeks but was not offered first trimester screening, two first contacted a health care provider between 14 and 20 weeks, and gestation at first contact was unknown in the other case. The remaining 13 women had had a first trimester nuchal translucency scan but had not completed the first trimester serum screening. In summary, of the 82 who took up the offer of first/second trimester screening 27 had a nuchal translucency scan alone, 38 had combined first trimester screening, 13 had a nuchal translucency scan and second trimester bloods, and 4 had second trimester bloods alone. Results of first/second trimester nuchal translucency and serum screening are shown by diagnosis group and potential for detection by screening in Table 4. The women in Table 4 whose tests were low risk in first/second trimester can be considered to be false negative results from the screening test. However, only the Trisomy 21 false negatives are true false negatives as this is the abnormality for which the screening risk estimates are calibrated for.

There were eight women who were referred for the first trimester combined screen and who had a nuchal translucency scan but did not have the blood test done so there was no risk reported. 8 The nuchal translucency measurements included one 1.4mm, three 1.8mm, one each of 2mm, 2.1mm, 2.6mm and 2.7mm. Of these eight women, two had second trimester blood tests which gave one low risk result and one increased risk result which was a Trisomy 21 and the only abnormality in this group of eight that was amenable to screening.

Table 4: First and second trimester screening results by congenital abnormality group Congenital abnormality perinatal related deaths 2010* First or second Increased risk False negative Total trimester result at Type of abnormality screen** screening* screening n n % n % n % CNS abnormalities Anencephaly/acrania 10 4 40 3 75 1 25 Spina bifida 9 8† 89 0 0 2† 100 Holoprosencephaly 3 2 67 0 0 Hydranencephaly 2 0 0 Hydrocephalus 4 4 100 0 0 Encephalocoele 2 0 0 Ventriculomegaly 2 1 50 0 0 Other CNS 3 0 0 Cardiac abnormalities Hypoplastic left heart 11 7 64 2 29 Non-specific abnormality 3 1 33 TGA 2 2 100 1 50 Septal defect 2 2 100 Other cardiac 11 6 55 1 17 Chromosomal abnormalities Trisomy 21 18 9 50 8 89 1 11 Trisomy 20 1 1 100 0 0 1 100 Trisomy 18 19 12 63 7 58 5 42 Trisomy 13 (includes T13/18) 6 4 67 1 25 3 75 Chromosomal mutation 11 7 64 3 43 Triploidy 6 4 67 3 75 1 25 Turner’s syndrome 3 2 67 2 100 0 Klinefelter’s syndrome 2 1 50 1 100 0 Myotonic dystrophy 2 2 100 0 0 Other chromosomal 5 3 60 0 0 Shaded rows denote potentially screen detectable congenital abnormality perinatal related deaths. Potentially screen detectable abnormalities include all NTDs (anencephaly, spina bifida and encephalocoele) and the chromosomal abnormalities Trisomy, Triploidy, Turner’s and Klinefelter's syndromes. * First trimester nuchal translucency with or without first or second trimester serum screening ** false negative rate has only been included for conditions where abnormality is potentially screen detectable † Only two of eight cases of spina bifida had second trimester serum screening. (Spina bifida is only detectable by first/second trimester screening if second trimester serum screening is performed.)

8 2010 guidelines prevent ultrasound providers from reporting the risk based on the nuchal translucency measurement alone. 12

137 women whose babies died in the perinatal period of congenital abnormalities 2010

First contact with a health First contact with a health First contact with a health First contact with a health professional <14 weeks professional <20 weeks professional 14-19 weeks professional >=20 weeks N=116 (85%) N=129 (94%) N=13 (9%) n=5 (and 3 missing gestation)

Offered 1st +/or 2nd trimester screening N=97 (71%)

1st +/or 2nd trimester screening N=82 (60%)

Abnormality Abnormality NOT potentially screen screen detectable detectable N=37 (27%) N=45 (33%)

Not offered Declined Positive Negative Positive Negative No first or second screening screening screen screen screen screen trimester screen N=32 (23%) N=15 (11%) N=25 (18%) N=20*(15%) N=7 (5%) N=30 (22%) N=8 (6%)

Reasons for suboptimal screening

Health Quality of Limitations Not all abnormalities Woman Lack of knowledge re value of professional screening of are detectable by unaware of maternity care and screening knowledge program screening screening pregnancy opportunities

Figure 5: Outcomes of first and second trimester nuchal translucency and 13serum screening among perinatal related deaths from congenital abnormalities 2010 * includes 6 cases of spina bifida who did NOT have second trimester serum testing so would not have been detected 3.5 Anatomy scan One hundred and twenty six women (92%) had an anatomy scan. The median gestation at the anatomy scan was 19 weeks with a majority of scans performed between 18 and 21 weeks. Of the 126 women who had an anatomy scan 96 (76%) were reported as abnormal, 16 (13%) as unclear9 and 14 (11%) were reported as low risk. The anatomy scan involves a sonographer capturing multiple views of the fetus for a radiologist so that they can review numerous aspects of the fetal anatomy. The ultrasound audit included 24 anatomy scans (of these 4 scans were not available). Seven cases were identified where the anatomy scan was reported as complete when in fact key views were missing, which meant the radiologist who initially reported on the scan should not have reported it as complete. The missing views also meant it was not possible for the expert reviewer to assess all aspects of the fetal anatomy.

3.6 Abnormality not detected until after fetal death or after birth Four of the mothers included in the audit had babies who were discharged from hospital and prior to the abnormality being detected. This group included three cardiovascular system abnormalities and one chromosomal rearrangement. One of these abnormalities was subsequently able to be detected on earlier images by our expert reviewer. A further 11 babies were not diagnosed prior to birth this included six babies who were still born and five babies who had the abnormality identified after birth, prior to discharge from hospital.

3.7 Pathway to diagnosis following detection of a possible fetal abnormality Once a fetal abnormality is suspected the pregnancy pathway moves from primary maternity services to secondary or tertiary care. The various steps in the pathway are outlined in Figure 7 below. This shows the most common pathway during pregnancy but may vary depending on: • The gestation as the decision about whether CVS or amniocentesis is offered is dependent on gestation. • The type of abnormality suspected.

o Central nervous system and cardiovascular abnormalities will often have an underlying chromosomal cause so some women will be offered karyotyping.

o Trisomy 21, Trisomy 13 and Trisomy 18 would not usually warrant referral to a geneticist as they are generally well understood. Less common abnormalities would result in referral, particularly if there was an increased risk of future pregnancies being affected. • The domicile of the woman. MFM units were located in Christchurch, Wellington, Hamilton and Auckland outside of these areas pregnant women will usually be assessed by an obstetrician first who will then make the referral to the nearest MFM unit adding another step in the pathway. Delays may occur if specialists such as

9 This group was made up predominantly of scans where part of the fetal anatomy was not adequately seen which could have been due to imaging issues or to abnormality. 14

geneticists and paediatric cardiologists are not available in the area or if late terminations are not provided at the DHB of residence.

3.7.1 Potential delays in the pathway to diagnosis Once the suspicion of an abnormality has been discussed with the mother the first step in the pregnancy pathway is referral to MFM or an obstetrician. Table 5 shows the various ways in which an abnormality can be first suspected and the time to referral. Overall the shortest time to referral occurred following the anatomy scan. Table 5: Days between steps in the pregnancy pathway after fetal abnormality suspected Eligible cases Median Interquar Minimu Maximu Time interval assessed (cases (days) tile range m (days) m (days) with data) Abnormal screen result to referral First trimester screen result to referral* 13(7) 2 0-33 0 46 Nuchal scan (only) to referral* 12(10) 2.5 0-19 0 51 Second trimester bloods to referral* 8(4) 9.5 3.5-25.5 2 37 Anatomy scan to referral 96(63) 0 0-1 0 14 Referral to appointment with fetal medicine 83 6 3-10 0 105 Referral to appointment with obstetrician 49 1 0-5 0 28 TOP discussed to decision made 84 0 0-3 0 88 Decision for TOP to procedure start 84(82) 2 1-4 0 12 * Earliest referral to MFM or obstetrician

The time from referral to an appointment is another step in the pregnancy pathway where there is potential for delay. The delay may be due to the way the hospital grades the referral or delay in obtaining an appointment. There were two outliers in the MFM referral to visit figure, both women either cancelled or did not attend appointments (Figure 6).

Boxplot of time from referral to MFM and obstetrician to visit (days) 120

100

s 60 y a D

MFM referral to visit Obstetric referral to visit

Figure 6: Box plot of time from referral to being seen by MFM and Obstetrician

Figure 7: Pregnancy pathway after fetal abnormality is suspected

Gestation at diagnosis (if before birth) by screening status

35 ) s k

e 30 e w (

s i 25 o s n g a

i 20 d

t a 15 o n i t a t

s 10 e G 5

no yes Screening status

Figure 8: Gestation at confirmation of diagnosis by screening status among screen detectable congenital abnormality deaths

Figure 8 shows that the final diagnosis occurs significantly earlier in screen detectable abnormalities where screening occurred in first and/or second trimester compared to no screening. The median gestation at diagnosis was 19.5 weeks (IQR 19-21) among screened and 21 weeks (IQR 19-25) among unscreened mothers with babies with screen detectable abnormalities. This difference was statistically significant (Kruskal Wallis test) p=0.02.

Boxplot of gestation termination offered (if offered) among screen detectable abnormalities 35 ) s k e e 30 w (

o n i t a n i

m 25 r e t

d e r e f o f 20 o n i t a t s e g 15

no yes Screening status

Figure 9: Gestation offered termination (if termination offered) by screening status among women whose babies had screen detectable congenital abnormalities.

Figure 9 shows that termination is offered earlier in pregnancy when women with screen detectable congenital abnormalities are screened in first and/or second trimester. Termination was offered at a median gestation of 20 weeks (IQR 19-21) among 19 screened women whose babies had screen detected abnormalities compared to 21 weeks (IQR 20-24) among 39 unscreened women, although this difference was not statistically significant (Kruskal Wallis test) p=0.08.

3.7.2 Other factors causing potential delays in the pathway to diagnosis Seven women were identified as having a delay in their pregnancy pathway due to communication issues, failure to refer and failure to follow-up (see below). These cases are in addition to those that may have had issues identified in the audit of screening (above) or in the ultrasound audit (below). There were two cases where the woman should have been referred to a specialist at an earlier time; one with an abnormal nuchal translucency measurement > 4.5mm, and one with an increased risk first trimester PAPP-A result. There were two women where communication issues between the hospital, the LMC or the woman that may have potentially contributed to the late identification of the abnormality. The first woman was referred by her general practitioner to the hospital for her maternity care but did not receive any of the letters about her appointments and therefore received no maternity care until the abnormality was picked up at her first scans at almost 22 weeks. The second woman was referred by her LMC to a specialist due to a medical history that could complicate the pregnancy. During the interval between the woman being referred and her first appointment she had an increased risk first trimester screening result. There was no record of the referral being updated and the increased risk of chromosomal abnormality was not discussed with the obstetrician during her appointments. There were two women who had a care issue relating to ultrasound follow up. The first had one soft sign identified during an anatomy scan which was incomplete as the required heart views were not obtained. The radiologist recommended follow up but this was not followed up by the LMC. The lack of follow up may have been contributed to by the recommendation for follow up being on the second page when the rest of the report was on the first page. The second woman had a dating scan at seven weeks and then another dating scan one month later reported the pregnancy as being five weeks. The discrepancy was not noted and there was no follow up.

3.8 The ultrasound audit

3.8.1 Documentation in the ultrasound audit Of the 137 women who were part of the audit, 82 had at least one ultrasound scan after ten weeks gestation and prior to the abnormality being identified. Images for scans that were done for amniocentesis or chorionic villus sampling were not included as the focus was on the procedure and not fetal appearance. For these 82 women we requested sets of static images for 131 ultrasound scans from private ultrasound providers and hospitals. Images

for 25 scans for 17 women had not been kept by ultrasound providers; ten women had no images available for review and seven women had at least one set of images available. One hundred and six sets of images from 72 pregnancies that were available were reviewed.

3.8.2 Potential to be detected earlier on ultrasound During the ultrasound audit the expert reviewer was able to identify five abnormalities earlier than they were detected during their pregnancy. An overview of the results is shown in Table 6. This included one Trisomy 18, one Triploidy, one central nervous system abnormality and two cardiovascular system abnormalities. It was also surmised that one of the anencephaly abnormalities could have been detected earlier as the patient had a nuchal translucency scan at 12 weeks which was reported as normal. The images for this ultrasound were not available for review. There were eleven women in whom the images from the ultrasounds were classified as equivocal, possibly abnormal. This group included two cardiac defects, two central nervous system abnormalities, four Trisomy 21 and five other chromosomal abnormalities. There were a further seven women who had equivocal scans, these were due to imaging issues. The images that were reviewed were incomplete or inadequate. This group included three cardiovascular abnormalities, one central nervous system abnormality and three chromosomal abnormalities. When the static images were viewed it was difficult to ascertain whether the images were not able to be collected because the baby was abnormal or they were not collected. This group represents both incomplete ultrasounds that were reported as complete and ultrasounds that were reported as incomplete. Five women had ultrasounds where it was not possible to detect the abnormality but the ultrasound images raised concerns. This included one Trisomy 21, one Trisomy 13, one Trisomy 18 and two other chromosomal abnormalities. In two cases there were markers which warranted further follow up, two cases where they should have been referred to a specialist and were not and one case where the follow up should have occurred within two weeks rather than the follow up in a couple of months as recommended by the radiologist.

Table 6: Outcome of the ultrasound image review Type of abnormality Central nervous Cardiovascular Chromosomal Total women in system 1.1 system 1.2 1.5 ultrasound audit n=72 n % n % n % n % Outcome of MFM review of ultrasound images Detected Earlier 1 1.4 2 2.8 2 2.8 5 6.9 Detected more than reported - - - - 1 1.4 1 1.4 Equivocal should have been follow 1 1.4 2 2.8 8 11.1 11 15.3 up Equivocal imaging was poor 1 1.4 3 4.2 3 4.2 7 9.7 Not able to be detected earlier - - - - 5 6.9 5 6.9 should have been follow up Not able to be detected earlier 12 16.7 11 15.3 20 27.8 43 59.7 * Five of the scans were reported as incomplete by the original ultrasound provider

3.8.3 Quality of the ultrasound machines The audit found variation in the type of ultrasound machines being used shown in Table 7. A majority of the machines were of good quality. The next largest group of machine type was the midrange machines followed by the old machines and there was one machine identified as low quality. In a number of cases the quality of the machine affected the ability of the sonographer to obtain the required images.

Table 7: Quality of the ultrasound machines used Type of scan Follow Total Bleed or Dating Anatom up Anomaly Other number NT scan viability scan y scan anatomy scan scan of sets of scan scan images n=10 n=49 n=9 n=24 n=3 n=3 n=8 n=106 n % n % n % n % n % n % n % n % Type of Good 4 40.0 29 59.2 6 66.7 16 66.7 2 66.7 2 66.7 5 62.5 64 60.4 Midrange 2 20.0 7 14.3 3 33.3 3 12.5 - - 1 33.3 1 12.5 17 16.0 Old 2 20.0 3 6.1 - - 1 4.2 - - - - 1 12.5 7 6.6 Low quality - - 1 2.0 ------1 0.9 Unknown 2 20.0 9 18.4 - - 4 16.7 1 33.3 - - 1 12.5 17 16.0

3.8.4 General quality issues identified from the ultrasound images In addition to the data presented above there were a number of general issues identified by the reviewer. • Multiple measurements- cannot tell which measurement was picked. This was a particular issue with the nuchal translucency measurement (15 sets of images). • Systems issues- the person undertaking the ultrasound scan was not working systematically.

o Some of the views were not captured particularly during the anatomy scan (25 sets of images) (this is an issue if the radiologist is not present during the examination as it is common practice for the images to be sent to an off-site radiologist for review).

o They moved to another part of the baby without completing the part of the anatomy they had started on (seven sets of images).

o Some of the images were not labelled (five sets of images). o Some of the images were measured incorrectly (callipers incorrectly placed) or not measured at all (22 sets of images). The nuchal translucency measurements are particularly difficult and this was reflected in the images. • Focal zone not on the baby (three sets of images).

• Incorrect settings on the machine- including early gestation settings for anatomy and too much gain or too much zoom (15 sets of images). • Crown rump length measurements often did not show the complete spine- there were a number that were incorrectly done also (nine sets of images).

3.8.5 Comparison between the ultrasound reports and the images Of the 131 ultrasounds requested 76%of the reports did not vary substantially from what was seen in the ultrasound images as shown in Table 8. There were a number of cases which did vary, including where an abnormality was seen on the images by the expert reviewer and was not mentioned in the report.

Table 8: Comparison between the ultrasound images and the reports

Number of sets of images

n=106 n % Difference between images and report Multiple views missing reported as complete 8 7.5 Abnormality seen during audit not mentioned 13 12.3 Difficulty of obtaining images not noted 2 1.9 labelling on scan different from report 2 1.9 Not substantially different 81 76.4

3.8.6 Audit of the basic points that should be included in the ultrasound reports Table 9 shows that the audit of the ultrasound reports was the only opportunity for all 131 ultrasounds to be reviewed as there were reports available even when the images were not. Overall most reported the minimum requirements completely. The review of the reports did not include other aspects that are helpful if included in the radiology report such as fetal anatomy and maternal anatomy.

Table 9: Audit of quality of ultrasound reports Type of scan Post anatomy Dating Other pre NT scan Anatomy and third scan anatomy trimester Total number of ultrasound reports (including scans with no images available) n=131 n=12 n=59 n=17 n=27 n=16 Parts of ultrasound report n= % n= % n= % n= % n= %

Indication 12 100.0 55 93.2 17 100.0 21 77.8 16 100.0 Gestation 12 100.0 59 100.0 17 100.0 26 96.3 16 100.0 Sonographer & Radiologist 7 58.3 14 23.7 6 35.3 12 44.4 8 50.0 Radiologist only* 5 41.7 35 59.3 10 58.8 13 48.1 6 37.5 Main measurements 12 100.0 59 100.0 16 94.1 26 96.3 16 100.0 Number of fetuses 11 91.7 ------Fetal anatomy ------27 100.0 - - Placental position ------27 100.0 16 100.0 Amniotic fluid vol ------27 100.0 16 100.0 All key points 11 91.7 55 93.2 16 94.1 21 77.8 16 100.0 *Radiologist only- includes when only obstetrician name on report.

3. Discussion

In 2010 there were 137 perinatal deaths associated with cardiovascular (29), central nervous system (35) or chromosomal abnormalities (73). These deaths constitute a significant portion of the 704 perinatal deaths during 2010 in New Zealand and as such they warrant further enquiry. The purpose of this audit was firstly to examine whether these abnormalities could have been prevented and secondly, could they have been identified earlier. We found that in 20 out of the 21 pregnancies with NTDs the women were not recorded as taking folate pre-conceptually and 8 out of the 21 were not recorded as taking it antenatally. Given the efficacy of folate to prevent NTDs when taken pre-conceptually (and in the first month of pregnancy when the neural tubes close), 14% of the 137 abnormalities could be potentially avoidable. Five fetal abnormalities (4%) could have been detected earlier based on the findings of the review of ultrasound images. This included two sets of anatomy scans that were reported as complete by the original radiologist when some of the required views were missing. There was one baby with anencephaly that could probably have been detected earlier as the woman had a nuchal translucency scan which was reported as normal. The images for this ultrasound were not available for review. A further 18 (13%) could potentially have been detected earlier if there was further follow up. There were also seven women (5%) where issues with their pregnancy pathway meant that the detection of the abnormality was possibly delayed. The reason why an abnormality was not identified earlier is complex and delay in detection is usually the result of several factors including maternal, organisational and personnel factors as well as delay in access or lack of engagement with care.

4.1 Documentation Documentation during the pregnancy was identified as an issue during this audit. There were six sets of LMC notes that were not able to be collected. In three of these cases there was no specific reason for the LMC not to retain a copy of these notes. Midwives are legally required to retain a copy of the notes for ten years (Ministry of Health 2007). In a number of cases the LMCs had difficulty providing the notes as they were not easily accessible. Documenting the use of folate was an issue, in particular whether it was used during the pre-conceptual period. Substance use was another area where there were issues with documentation with 39 women (28%) where there was no record of whether or not they had used substances during the pregnancy. Documentation of smoking status (n=134) was more comprehensive but there were a number of women where it was not clear whether they had never smoked, quit prior to the pregnancy or quit prior to booking (n=26). Documentation was also an issue when it came to reviewing static images for the ultrasound audit. Of the 131 sets of ultrasound images requested 25 of these had not been retained by the ultrasound providers. This raises issues in terms of maintaining the patient record and also prevents the audit of these images. A number of these practices still do not retain a copy of ultrasound images beyond six months despite continued improvements to electronic data storage which make it easier and cheaper to store the static images. The storing of static images facilitates ongoing audit and the review of cases when there is an adverse outcome such as a perinatal death.

4.2 Date of booking Many women had contact with a medical professional prior to the cut off for first trimester screening (13 weeks and six days), however many of these women did not go onto book until after 14 weeks. Early booking is important for ensuring that pregnant women receive adequate care during their pregnancy as it enables the LMC to identify any potential risk factors, give the women healthy eating and pregnancy safety tips and to discuss and refer the women for screening (NICE 2008). Gestation at booking is especially important for the detection of fetal abnormality because the first trimester combined screen needs to occur between nine and 13+6 weeks, ideally the blood tests are done at ten weeks and the nuchal translucency scan is done at 12 weeks. The first trimester screening test becomes less sensitive at later gestations. There is the possibility that the sample included in this audit is skewed towards women who book later. This is due to the fact that women who booked early had a better chance of the abnormality being detected early and the option to have an early termination of pregnancy. Terminations of pregnancy prior to 20 weeks are not included in the PMMRC dataset. This skewing is minimised given the limited potential most of the abnormalities included in the sample have to be detected earlier particularly with the abnormalities that are not screen detectable.

4.3 Demographic and substance use Overall the demographic and substance use reflected the general population of New Zealand. As reported in the PMMRC annual report, national data on alcohol and substance use during pregnancy is not collected making it difficult to compare substance use in pregnancies which resulted in a perinatal death with other pregnancies (PMMRC 2012). The median body mass index was slightly higher in the women who had babies with central nervous system defects although not statistically significant. The higher median body mass index for this group may reflect the increased risk of NTDs when the body mass index is over 29 (Shaw, Velie et al. 1996; Watkins, Scanlon et al. 1996).

4.4 Folate use It is recommended that all women take folate supplements for three months prior to conception and during the first three months of pregnancy to reduce the incidence of NTDs (risk ratio for folate use for reducing NTDs 0.28, 95% confidence interval 0.15 to 0.52) (De- Regil Luz, Fernández-Gaxiola Ana et al. 2010). The dosage recommended by the Ministry of Health for women who are planning a pregnancy or are pregnant is 0.8mg for low risk women and 5mg for high risk women (women who have had a previous NTD, when there is a family history of NTDs, take insulin for diabetes or other medications) (Ministry of Health 2010). Women need to take folate prior to pregnancy and during the first trimester as the first month is when NTDs develop (NTDs are a group of central nervous system abnormalities). Folate use was difficult to assess due to the lack of documentation of maternal pre-conceptual and early antenatal behaviours. Furthermore, Elevit a preparation containing folate can be bought over the counter so no prescription is required and there is no record in the general practitioner notes for pre-conceptual use. Most templates for LMC notes contain a space for entering folate use; however it does not specify whether it was

used pre-conceptually or just antenatally. The lack of information about folate use may also reflect a lack of folate use in the pre-conceptual and early pregnancy period as a 2011 retrospective study of 758 post-partum women in New Zealand showed (Mallard, Gray et al. 2011). This is highly likely as almost half of all pregnancies are unplanned in developed countries (Singh, Sedgh et al. 2010).

4.5 Medication use during pregnancy A large proportion (40%) of women included in the audit took prescription medication during their pregnancy prior to the abnormality being detected. The majority of the medications are not associated with congenital abnormalities. However, all health professionals need to be aware of the risks and advise women to avoid medications. Unplanned and undetected pregnancies are also an issue here.

4.6 Pre-pregnancy and antenatal counselling The importance of the health of the mother prior to and during pregnancy is important to ensure healthy pregnancies, healthy pregnant women and healthy infants. BPAC, the Centre for Disease Control and Prevention (Johnson, Posner et al. 2006) and the American Journal of Obstetrics and Gynaecology (Moos, Dunlop et al. 2008) all recommend that all women of childbearing age should receive pre-conceptual counselling. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommend that all women planning pregnancy should be advised to consult their general practitioner. This is to assist in the detection of any conditions that may be of relevance to the pregnancy, for further assessment of these conditions and for general advice regarding personal health during early pregnancy (RANZCOG 2009). Aiming to optimise BMI prior to pregnancy is important as a BMI greater than 29 doubles the risk of NTDs (Shaw, Velie et al. 1996; Watkins, Scanlon et al. 1996). When there is a pervious history of congenital abnormalities or a familial history of congenital abnormalities the need for pre-pregnancy and early pregnancy counselling becomes even more important. Family history is described as the most important genetic “test” by one author (Solomon, Jack et al. 2008). In most cases a family history was collected but in some cases the history of abnormalities were not accurately reported or identified and in other cases the familial history of congenital abnormalities was not addressed. This meant that even though there was a family history of heart defects including previous perinatal deaths, there did not appear to be any attempts to discuss how this impacts on the current pregnancy pathway. Typically a previous history of congenital abnormalities will result in ensuring the woman receive the standard screening at the optimal times and may include an early anatomy ultrasound scan or that the ultrasound scans are performed on high quality machines. This is the case even when there is a low risk of another abnormality as with Down syndrome or Edward’s syndrome to give the women more options through early detection. Where there is an increased chance of another pregnancy being affected by a congenital abnormality as is the case with Fragile X and some NTDs the women should be offered genetic counselling. The counselling received by women with a previous abnormality or a

family history of congenital abnormalities may have been under-reported. The data collected for this audit provided a snapshot of care the women received around the time of the index pregnancy; in most cases the notes from previous pregnancies were not included. Previous episodes of counselling for congenital abnormalities should not preclude further counselling during future pregnancies as it is necessary to ensure that all those providing care to the women understand the increased risks and provide appropriate care.

4.7 Date of first ultrasound Early ultrasound is an important part of antenatal care, the National Institute for Clinical Excellence (NICE) recommends that all women be offered an early ultrasound between ten weeks and 13 weeks and six days (NICE 2008). This is to identify any multiple pregnancies and to determine gestational age to reduce the induction of labour for prolonged pregnancy. The gestational age recommended by NICE includes the time during which every woman in New Zealand should be offered a nuchal translucency (11 weeks to 13 weeks and six days) which is funded. Women in New Zealand are also funded for ultrasound scans prior to the nuchal translucency scan if there is uncertainty around the gestational age or concerns about viability.

4.8 First trimester screening The first trimester screening blood tests can be undertaken between 9 weeks and 13 weeks and six days. The nuchal translucency scan can be undertaken between 11 weeks and 13 weeks and six days, ideally it should be done at 12 weeks (National Screening Unit 2012). In most cases the blood tests are done first and then the nuchal translucency scan. While screening through ultrasound and / or blood tests has been offered in New Zealand for a number of years the recommendation that all women be offered the combined screen was introduced in February 2010. This may have contributed to the variation in screening offered to women in the audit. It should be remembered that the screen is calibrated for maximal sensitivity for Trisomy 21. While the test will also predict other conditions where there is an excess of chromosomal material the test is less sensitive for other abnormalities including Trisomies 18 and 13. This is evident in the higher number of false negatives for Trisomy 13 (75%) and Trisomy 18 (42%) when compared to the false negative rate for Trisomy 21 at 11%. Of note the first contact for the majority of women during pregnancy was their general practitioners (93 (68%)), who were responsible for initiating the referral of women for their first trimester screening. This raises questions regarding where education for healthcare providers around screening should be targeted and greater education for GPs should be looked at. Lack of clarity around what is being screened for was identified as an issue for both referrers and mothers in the 2006 report on antenatal screening (Stone and Austin 2006) There appeared to be a logistical issue when women had only the nuchal translucency and not the accompanying first trimester blood tests. Since February 2010 radiology practices are no longer able to report on the nuchal translucency result separate from the blood tests unless the women specifically states that she does not want the blood tests (National

Screening Unit 2012). There were eight cases where the woman was supposed to have the first trimester combined screening but they did not complete the blood tests. Only two went on to have the second trimester screening while the other six had no first trimester risk reported. This highlights an issue with the combined first trimester screening and raises questions around who was responsible for following up the completeness of the screening and the results. The National Screening Unit website states that is the responsibility of the laboratory to follow up with the referrer at 12 weeks if both parts of the combined screen have not been received (National Screening Unit 2012). It would be prudent to check whether this responsibility for follow up is being met. The nuchal translucency measurement is known to be a difficult measurement to obtain accurately (Snijders, Thom et al. 2002). This was shown to be an issue during the audit of static images from ultrasounds often due to incorrect placement of callipers on the image or unsuitable fetal position. At present only 77 of the 164 sonographers and radiologists to have obtained their original certificate of competence from the Fetal Medicine Foundation have submitted images from nuchal translucency measurements for subsequent audit (The Fetal Medicine Foundation 2012).

4.9 Second trimester screening The second trimester screening can be undertaken between 14 and 20 weeks, ideally between 15 and 17 weeks(National Screening Unit 2012). Previously the second trimester screening had involved the triple test now it is the quadruple test which measures four analytes, beta-human chorionic gonadotropin, alpha-fetoprotein, unconjugated oestriol and inhibin A (National Screening Unit 2012). The second trimester quadruple test has a similar detection rate for Trisomy 21 as the combined first trimester screen (National Screening Unit 2012). While the detection rate is the same the earlier detection of chromosomal abnormalities gives women a greater number of pregnancy options. The low number of women undertaking second trimester screening was mostly due to the comparatively high rates of first trimester screening. Only 13 women presented between 14 weeks and 19 weeks which is the timeframe for undertaking second trimester screening. Alpha fetoprotein which is one of the analytes tested during the second trimester screening test may be raised if there is a NTD. Alpha fetoprotein is not particularly specific or sensitive and therefore the anatomy scan is where most NTDs are detected and is one reason why second trimester screening is not funded for women who have already had the first trimester screening. (National Screening Unit 2012).

4.10 Anatomy scan The anatomy scan is an important obstetric ultrasound scan as it reviews multiple features of the baby’s anatomy. As part of this review the anatomy scan detects most NTDs and major central nervous system abnormalities. In some cases cardiovascular system defects can be detected, as well as markers for some chromosomal abnormalities. Of the 137 women included in the audit 126 (92%) had an anatomy scan, and a majority of these scans were reported as abnormal (96) or unclear (16).

Ideally the anatomy scan should occur between 18 and 20 weeks gestation (NICE 2008). The median gestation for the anatomy scan amongst women in this audit was 19 weeks, with a majority being performed between 18 and 21 weeks. In women who are obese issues with sub-optimal visualisation become a problem when reviewing the fetal heart and spine(Hendler, Blackwell et al. 2004). This has led to anatomy scans being done at later gestations when the ultrasound views are easier to capture.

4.11 Pathway following detection of a fetal abnormality The pathway following the detection or suspicion of a congenital abnormality is an area for potential delay due to multiple steps involved. The time between identification of an abnormality and the confirmation of the abnormality is a time of huge stress for the woman and their families (Asplin, Wessel et al. 2012). This wait may occur between ultrasounds in the community or between an ultrasound or screening in the community and follow up with a specialist. The first point where there is potential for delay is from the abnormal result to referral. This may be due to a delay in reporting the abnormal result or because there was delay in the decision making process around referral. Delay was evident in the second trimester screening with a median of nine days between the blood test being done and referral. It is not clear whether this is due to a delay in reporting the results (the national screening unit guidelines state three working days (National Screening Unit 2012)), or between the reporting of the results and the actual referral being done. Not referring the women to a specialist even though her results indicated referral was also an issue which could be the result of the care provider misinterpreting the result or patient choice. Steps further along the pregnancy pathway after a fetal abnormality is suspected also create potential for delay (Figure 7), although this did not appear to be a significant factor in this audit. The number of days between referral and being seen was slightly longer for the MFM specialists than the obstetricians. This is likely due to the MFM units only being located in the Auckland, Wellington, Christchurch and Hamilton (the Hamilton MFM unit no longer operates). The median number of days between referral to the MFM service and being seen was six days which is within the week recommended by the MFM network although this means that there was 31% of women who were not seen within this time (Health Point 2012). The number of days between referral and being seen was influenced in a number of cases by the women having to travel to the appointment or choosing not to attend the appointment.

4.12 Potential to be detected earlier on ultrasound Ultrasound is relied upon to detect a large number of congenital abnormalities (76% of the 126 anatomy scans were reported as abnormal). In this audit there were five abnormalities that were identified by an expert reviewer as being detectable earlier on ultrasound scan. This included one Trisomy 18, one Triploidy, one central nervous system abnormality and two cardiovascular system abnormalities. One of the cardiovascular system abnormalities was not identified until after the baby had been discharged home after birth.

These findings not only show the potential for some abnormalities to be detected earlier, they also show how difficult it is to identify congenital abnormalities on ultrasound. The nature of congenital abnormalities mean it is often difficult to be sure whether the anatomy is abnormal or just difficult to obtain views. This is evident in the 16 anatomy ultrasounds that were initially reported as unclear. Even with abnormalities which are almost always identifiable on ultrasound it is difficult to definitively say whether they could potentially have been detected earlier on without reviewing the images.

4.13 Ultrasound audit findings There are numerous factors that can affect the ability of a radiologist to identify a congenital abnormality including fetal lie, maternal habitus and gestation. In some cases the quality of the ultrasound machine was identified as an issue and contributed to the missing views in a number of the ultrasound scans reviewed. Other factors also contributed to the difficulty in obtaining images including a number of technique issues. However, overall the quality of the machines used was adequate for the ultrasound scans that were being done. Ideally “high end” / good machines should be used when undertaking anatomy and nuchal translucency scans. Of more concern than the missing images was when scans were reported as complete when there were images missing. This meant that the fetal anatomy was not adequately reviewed and that the woman should have been recalled for follow-up. The misreporting of scans, in particular anatomy scans, was a contributing factor in delaying the detection of the abnormality in a number of cases. Overall most of the radiology reports were complying with the basic requirements for reporting obstetric ultrasounds. Where there was not compliance is an area of concern as the amount of documentation required for an ultrasound scan is not extensive. In particular with the anatomy scan where almost the entire fetal anatomy is reviewed and it is adequate to report it simply as ‘no abnormality detected; when the anatomy appears normal. Given that there are guidelines for what should be assessed during obstetric ultrasounds (ASUM 2001; ASUM 2005; ASUM 2005; ASUM 2008), it would not be difficult to create industry guidelines for the reporting of obstetric ultrasounds, such as a standardised template. Proprietary products are available which facilitates a systematic approach to scanning and reporting.

4.14 Strengths Due to the robust ascertainment of cases and collection of data by the PMMRC we are assured that this audit includes almost all perinatal deaths associated with congenital anomalies due to cardiovascular, central nervous system and chromosomal abnormalities during 2010. This gives us the largest possible number of cases to evaluate and the most comprehensive data available. However, numbers were small for deaths as the result of cardiovascular and central nervous system abnormality. This audit looks at the whole pregnancy from pre-pregnancy behaviours, through the pregnancy prior to diagnosis and then after the diagnosis. This enables us to review the pregnancy as a whole which better reflects the complex nature of maternity care and the multiple factors that contributed to a number of the abnormalities being identified later.

4.15 Limitations The retrospective nature of audit meant that when data was not included in the file there was limited potential for following up on this information. It is the policy of the PMMRC not to contact the women for their notes or the women themselves to ask for details that may be omitted from the notes. All but six sets of LMC notes were retrieved which means that the data collected was largely complete and comprehensive. The three sets of notes that had been given to the woman even though the midwife was still practicing highlight the importance of LMCs retaining a copy of all clinical notes. Areas where there are data not recorded should be viewed as areas where more robust and comprehensive documentation taking is required. This audit only reviews perinatal deaths associated with cardiovascular, central nervous system or chromosomal abnormalities. We acknowledge that some pregnancies associated with these abnormalities are terminated prior to 20 weeks gestation and some babies with these conditions live past 28 days of age with ongoing morbidity or mortality.

4. Recommendations from improving quality and safety in maternity services: can we improve prevention, detection and management of congenital abnormalities in pregnancy?

There are a number of areas this audit has identified where the prevention, identification and treatment of congenital abnormalities can be improved. These areas are considered from pre-conceptual and early antenatal care, through to screening, referral to specialist services, options for care and general recommendations. These recommendations target many levels of the health care system from the Ministry of Health, District Health Board and specialists, screening and radiology services through to Lead Maternity Carers and general practitioners.

5.1 Recommendations for pre-conceptual care

5.1.1 All women should receive pre-conceptual counselling • To optimise maternal health by identifying current medical conditions, prescription medications, smoking, alcohol and drug use and BMI and recommendation for pre-conceptual folate. • Education on nutrition, smoking cessation, alcohol and drug avoidance. • To identify risks including previous obstetric history, family history of congenital abnormalities in either parent and refer appropriately.

Justification for the recommendation

(a) From the review

Pre-pregnancy counselling can address the high usage of medications during early pregnancy (43%), in particular when those medications are potentially harmful. It can also address substance use which was found to be at 10% for alcohol, just below 3% for marijuana and 20% for smoking.

There were low levels of counselling documented with regards to how previous congenital abnormalities or a family history of congenital abnormalities may affect the planned (or current pregnancy). Women who themselves had a congenital abnormality were the most likely to receive counselling regarding pregnancy (60%) followed by those who had a baby with a previous congenital abnormality (20%). Women with a relevant family history received counselling in only two cases (12.5%).

(b) Other evidence

Reducing levels of substance use including alcohol and smoking can reduce maternal and perinatal morbidity and mortality (Wong, Ordean et al. 2011). This can be done by routinely screening women of childbearing age and all pregnant women for substance use. This can be done in conjunction with counselling about the risks of peri-conceptual and antenatal substance use (Wong, Ordean et al. 2011). Substance use can adversely affect babies

throughout the pregnancy and after birth and reducing the amount of substance use before or during pregnancy can improve maternal and fetal outcomes.

Pre-pregnancy counselling can address a variety of factors that increase the risk of congenital abnormality. Optimising BMIs prior to pregnancy as a BMI greater than 29 doubles the risk of NTD (Shaw, Velie et al. 1996; Watkins, Scanlon et al. 1996). BMI also increase the rate of sub-optimal visualisation of the fetal heart and spine during the anatomy scan (Paladini 2009).

Likely outcome from recommendation

An overall improvement in the health status of women of childbearing age. Reduction in behaviour that is harmful or potentially harmful in women considering pregnancy or during early pregnancy including reducing substance use. Improved counselling for women with a previous congenital abnormality or a family history of congenital abnormalities in either parent. Changes to the pregnancy pathway for these women to ensure that any potential abnormality is detected as early as possible.

5.1.2 Folate use in women of reproductive age • Media campaign for pre-conceptual folate. • Investigate further evidence on fortification of bread with folate.

Justification for the recommendation

(a) From the review

Overall only 9 women were recorded as having taken folate pre-conceptually and only one woman whose pregnancy had resulted in a NTD had taken folate pre-conceptually. Rates were higher for folate antenatally with 74 women recorded as taking folate antenatally.

(b) Other evidence

Folate is the most proven method of prevention of congenital abnormalities. Fortifying bread with folate as Folate use of 0.4mg of folic acid during the four weeks prior to pregnancy and 12 weeks after conception can reduce the risk of first NTDs by up to 70% (Auckland District Health Board 2005). The dose of 5mg is recommended for some high risk groups. Many women do not take folate until after they find out they are pregnant by which time the neural tubes have already failed to close properly. A media campaign would highlight the importance of taking folate pre-conceptually and in the first month.

As there are currently low levels of compliance with current folate recommendations fortifying bread with folate would mean a larger number of women would receive the recommended folate dose prior to pregnancy and during the first few weeks when it is most effective (Mallard, Gray et al. 2011). When mandatory fortification was modelled based on a retrospective survey of 758 postpartum women in New Zealand it was found that socio-

demographic predictors of poor folate supplement use were ’either non-significant or appreciably attenuated’(Mallard, Gray et al. 2011)

Likely outcome from recommendation

A media campaign would improve knowledge about how pre-conceptually and in the first weeks of pregnancy are the most important times to take folate. It would also likely increase the use of folate antenatally.

Investigation of further evidence for the fortification of bread would enable the New Zealand Government to make an informed decision regarding the potential outcomes of the mandatory fortification of bread.

5.2 Recommendations for antenatal care • Education of all women is required about the importance of booking before 10 weeks. • As general practitioners are often the first point of contact for pregnant women, it is essential that they are able to effectively offer

o First trimester screening o Facilitate expeditious booking with an LMC.

Justification for the recommendation

(a) From the review

A majority of women in the audit saw a health care provider before the cut-off for first trimester screening (83%) while only 66% went on to book with a LMC before 14 weeks. This delay from the first contact with a health care practitioner means that if screening is not discussed and offered at the first visit there may not be another opportunity to offer it.

The first point of contact was the woman’s general practitioner in a majority of cases. This means that the Ministry of Health will need to target both general practitioners and LMCs when educating health care providers about screening. This will ensure that if a pregnant woman is seen by a health care provider early in her pregnancy she will be offered screening whether she has booked or not.

The delay between first contact with a health care professional and booking demonstrates that a number of women are missing out on key aspects of early antenatal care. There was also the further 34% of women who did not booking until after 14 weeks who should be booking by ten weeks. Part of this delay in booking may be due to a lack of knowledge about how maternity services work in New Zealand and the importance of booking early.

(b) Other evidence

The NICE guideline states that discussion around antenatal screening should occur prior to booking(NICE 2008). The guideline also recommends that women book before ten weeks. This is to enable early discussion and education around food hygiene, lifestyle choices, screening

Likely outcome from recommendation

Women will book earlier with a LMC. There will likely be an increased uptake in screening and an improvement in pregnancy outcomes.

5.3 Recommendations for screening programme

Justification for the recommendation

(a) From the review

Currently the algorithms used in New Zealand’s first and second trimester screening focuses on Trisomy 21. The algorithm used does identify a number of other congenital abnormalities in particular other Trisomies and various sex-linked chromosomal abnormalities. There potential for these other chromosomal abnormalities that are amenable to screening to be actively screened for and the feasibility needs to be assessed. Given the large number of Trisomy 18 and Trisomy 13 abnormalities in the data and the higher false negative rates in screening for these (false negative rates were 42% and 75% respectively) this is an area that requires further review.

Improve general practitioners and other healthcare practitioner’s knowledge of other abnormalities that may be present. One of the women in the audit had a nuchal translucency measurement of over 4.5mm which is well above the threshold for referring to Maternal Fetal Medicine. The woman was not referred as she discussed it with her general practitioner and decided she would not want invasive testing and would keep a baby with Trisomy 21. The baby was eventually diagnosed with another chromosomal abnormality.

The counselling with regards to first and second trimester screening needs to be reviewed given the number of women who were offered screening but declined.

Screening opportunities missed – the health practitioner must follow up if a woman only has one part of the first trimester screening done. Since 2008 there have been two parts to the first trimester screen and this has resulted in a number of women only completing half the recommended screening. As of February 2010 the ultrasound providers are no longer able to give a risk result based on the nuchal translucency result alone. This resulted in eight women in the audit not receiving a first trimester screening. Only two of the eight women went onto have the second trimester screening.

(b) Other evidence

High levels of detection for Trisomy 18 and Trisomy 13 can be achieved when the appropriate algorithm is run on the same samples collected for Trisomy 21 (Kagan, Anderson et al. 2008). Open NTDs including open spina bifidas can be detected using the second trimester maternal serum screening analyte Alpha Fetoprotein.

Likely outcome from recommendation

Women will be fully informed of the screening programme in New Zealand and make informed decisions regarding completing the tests. They will receive accurate information on the results of the tests performed.

5.4 Recommendations for documentation • All LMCs should document pre-conceptual folate and antenatal folate use including when the woman commenced taking folate and the dose. • LMCs must be encouraged to comply with the legal requirement to retain a copy of the woman’s notes for ten years. This facilitates audit but is also important for ongoing clinical care. • Radiology services retain a copy of the ultrasound • Ultrasound reports should be comprehensive, in particular meet the minimum requirements of reporting and use a standardised format.

Justification for the recommendation

(a) From the review

There were six sets of LMC notes that were not able to be collected as the midwife had left the country and or the woman had been given the notes. In three of these cases there was no specific reason for the LMC not to retain a copy of these notes. This resulted in missing data points for these women and complicated the review of their pregnancy pathway.

There was great difficulty in establishing firstly whether or not the woman had taken folate and secondly whether she had taken it during the pre-conceptual period and during the first month of pregnancy when NTDs form.

Of the 131 sets of static images requested 25 had not been retained by the ultrasound provider. This prevented the review of these images during the audit of ultrasound images.

Ultrasound reports did not always accurately reflect what was seen on the ultrasound. There were also issues identified when it came to the comprehensiveness of the ultrasound reports, in particular the basic requirements.

(b) Other evidence

Keeping accurate and complete records of care provided for women is an important part of the LMC role. All health care providers including LMCs are legally required to retain a copy of the notes for ten years (Ministry of Health 2007).

Likely outcome from recommendation

There will be accurate recording of folate use and identification of risks for congenital abnormality. There will be accurate recording of ultrasound findings and identification of who performed these. Improved documentation leads to better understanding of results leading to improvements in the quality of care provided.

5.5 Recommendations for ultrasound services • Ultrasound services provided by radiology and obstetric services should audit their images to ensure accurate measurements are obtained during scanning, in particular during the nuchal translucency scan. • Provision of real time images to radiologists who specialise in obstetric ultrasound and then referral to MFM service multidisciplinary teams to allow specialist review of images in areas that do not have these services and use a standardised format.

Justification for the recommendation

(a) From the review

There were a number of issues that were identified during the audit of the ultrasound images and their reports. This included difficulty in obtaining accurate measurements, particularly during the nuchal translucency scan.

The time between referral to MFM and the woman being seen was longer than for obstetricians. Part of this delay was the distance some of the women had to travel to attend the MFM clinic as the MFM centres were only located in Wellington, Christchurch, Hamilton and Auckland. Travelling involved organising time off work, accommodation, transport and in some cases childcare for other children. There were a number of cases where paediatric

cardiologists in Auckland were able to review echocardiograms for patients located outside the Auckland area.

(b) Other evidence

Currently only 77 of the 164 sonographers and radiologists who obtained their certificate of confidence from the Fetal Medicine Foundation have submitted images from nuchal translucency measurements for audit (The Fetal Medicine Foundation 2012). Reviewing echocardiograms currently occurs in cases where congenital cardiovascular abnormalities require paediatric cardiology review (Barbier, Vecchia et al. 2012). Difficulties in image compatibility may be overcome by real-time review and other technological developments.

Likely outcome from recommendation

Sonographers and radiologists will receive feedback regarding the quality of the scanning including technique and equipment issues. Improved ultrasound examination and reporting leading to an improved detection rate at an earlier gestation.

Increase in use of distance viewing of ultrasounds in real time and echocardiograms by MFM specialists. Reduction in waiting times for specialist review and reduction in travelling for specialist review.

5.6 Recommendations for referral to specialist services • Promote the current National Screening Unit referral guidelines regarding immediate referral to specialist services. • The National MFM Network should audit regularly time from referral to review in their service to ensure that the majority of women are seen within 7 days as recommended.

Justification for the recommendation

(a) From the review

Currently there are no guidelines regarding appropriate referral times, this includes how soon after an abnormality is suspected should a referral occur and how long should it take before the woman is seen. While the number of cases was small there did appear to be variation between how soon after an abnormal result the woman was referred and how quickly she was seen once the referral was sent. It was difficult to be certain of areas where delay had occurred as there were no clear guidelines on appropriate waiting times. There were guidelines stating under which circumstance a woman should be referred due to her screening result but these were not followed. Given the lack of knowledge around these referral guidelines there may need to be more education around these for health care providers.

The MFM specialists were usually meeting their target, to see women within a week of referral (median was six days). Cases where there were delays should be reviewed to ensure that women are being seen in a timely manner after an abnormality is suspected or detected.

(b) Other evidence

Variations in practice were an issue identified in the report into Antenatal screening in New Zealand in 2006 (Stone and Austin 2006). The National Screening Unit states that there should be an immediate referral to an obstetrician (National Screening Unit 2012).

Likely outcome from recommendation

The number of days between an abnormality being suspected and a referral being made will be reduced. We will be able to more easily identify areas where there are delays when targets for referral and appointment times are not being met. An increase of referral for screening results where the pregnancy may have screened low risk for Trisomy 21 but may be at risk of other pregnancy complications.

5.7 General recommendations • Enhancement of the current birth defects register to include congenital abnormalities where a perinatal death occurred.

Justification for the recommendation

(a) From the review

This audit provides evidence for the need for a wider register for birth defects that includes pregnancies where perinatal deaths occurred. The small number of women included in this audit does not accurately reflect the incidence of congenital abnormalities and makes it difficult to make broader generalisations about how congenital abnormalities are identified and how this alters the pregnancy pathway. The fullest picture of congenital abnormalities would be achieved by including all congenital abnormalities including early terminations (before 20 weeks).

(b) Other evidence

Many other countries including Australia and Britain maintain registers of congenital abnormalities identified antenatally, after birth or during childhood. This enables them to more effectively audit services and monitor birth defects as well as plan for service provision in the future.

Likely outcome from recommendation

This would enable us to audit and feedback false negatives from screening, ensure women receive high quality ultrasound services and monitor equity of access to tertiary services across New Zealand.

General advice for women

• See your general practitioners before contemplating pregnancy to ensure that you are prepared for pregnancy – this includes having a healthy weight and stopping smoking and drinking.

• Start taking folate supplements before pregnancy as this is important for preventing neural tube defects which are formed in the first month of pregnancy.

• Continue taking folic acid through the first trimester. • As soon as you think you are pregnant and preferably before 10 weeks gestation contact a health practitioner for advice on pregnancy, first antenatal blood tests and for information on how to book with a lead maternity carer.

• Book with a lead maternity carer, preferably before ten weeks. (ask your general practitioner for contact details)

• Ask for information on first trimester screening so that you can make an informed choice about screening.

• The Ministry of Health recommends that all women have a first trimester combined screen. This involves a blood test between 9 and 13 weeks and six days gestation (ideally between 10 and 12 weeks) and a nuchal translucency ultrasound scan between 11 and 13 weeks and six days (ideally at 12 weeks).

• If you missed out on your first trimester screening ask for second trimester screening.

• Have your anatomy scan between 18 and 22 weeks, ideally it should take place at about 20 weeks. For further information about screening and early pregnancy care speak to your general practitioner or lead maternity carer. You can also visit: http://www.nsu.govt.nz/antenatal-screening.aspx

Appendices Appendix 1. Congenital abnormality diagnosis (PSANZ ) n=137 Diagnosis n % Central Nervous System 1.1 35 25.5 Anencephaly / Acrania 10 7.3 Spina bifida 9 6.6 Hydrocephalus 4 2.9 Holoprosencephaly 3 2.2 Hydranencephaly 2 1.5 Encephalocele 2 1.5 Ventriculomegaly 2 1.5 Vein of Galen 1 0.7 Cerebellar hypoplasia 1 0.7 Dandy-Walker malformation 1 0.7 Cardiovascular System 1.2 29 21.2 Hypoplastic left heart 11 8.0 Non-specific heart abnormality 3 2.2 Transposition of the great vessels 2 1.5 Septal defect 2 1.5 Ebsteins anomaly 1 0.7 Preductal coarction of the aorta 1 0.7 Premature closure of the ductus ateriosus 1 0.7 Pulmonary atresia 1 0.7 Atrio-ventricular discordance 1 0.7 Endocardial cushion defect 1 0.7 Truncus arteriosis 1 0.7 Pulmonary stenosis 1 0.7 Severe aortic and mitral stenosis 1 0.7 Tetralogy of fallot 1 0.7 Cardiomyopathy 1 0.7 Chromosomal 1.5 73 53.3 Trisomy 21 18 13.1 Trisomy 18 5 3.6 Trisomy 13 20 14.6 Trisomy 20 1 0.7 Other- chromsomal abnormality* 11 8.0 Triploidy 6 4.4 Turners 3 2.2 Klinefelter 2 1.5 Myotonic dystrophy 2 1.5 Cri du Chat 1 0.7 Fragile X 1 0.7 Meckel-Gruber Syndrome 1 0.7 Spinal Muscular Atrophy 1 0.7 Periventricular neuronal heterotopia 1 0.7 *Includes duplications, translocations and deletions.

Appendix 2. Number of women taking medications during pregnancy by name of medication and pregnancy classification 9. Number of women taking each medication Name of medication and n=124 pregnancy category n A Amoxycillin 9 Bromocriptine 1 Butacort 2 Calcium 1 Codeine 5 Cyclizine 2 Dhc continus 1 Erythromicin 2 Metoclopramide 2 Methyldopa 1 Paracare Junior 1 Paracetamol 5 Penicillin 1 Polaramine 1 Prednisone 1 Respigen 9 Thyroxine 1 B1 Augmentin 4 Azithromycin 1 Cefaclor Monohydrate 1 Flucoxaillin 5 Gabapentin 1 Lomide eye drop 1 Loratab 2 Loratadine 1 Ondansetron 1 Ranitidine 1 Roxithromycin 1 Tamiflu 1 B2 Flu vaccine 2 Motilium 1 Razene 1 Venlafaxine 1 10

10 Category A Drugs which have been taken by a large number of pregnant women and women of childbearing age without any proven increase in the frequency of malformations or other direct or indirect harmful effects on the fetus having been observed

10 Category B1 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in animals have not shown evidence of an increased occurrence of fetal damage.

Appendix 2 continued. Number of women Number of women taking each medication taking each medication

Name of medication and n=124 Name of medication and n=124 pregnancy category n pregnancy category n B3 D Alanase 1 Depo Provera 1 Beclazone 1 Paroxetine 1 Flixotide 5 No classification Losec 1 Ascorbic Acid 1 Noriday 2 Hydroxocobalamin 1 Omeprazole 2 Iodine 1 SeretideR 1 Lactulose 2 Trimethoprim 1 Neo-Cytamen 1 C Otrivine/Otrivin 1 Aspirin 2 Penmix 1 Brufen 3 Pyridoxine 2 Citalopram 3 Diazepam 1 Diclofenac 2 Fluoxetine 1 Flupenthixol 1 Frusemide 1 Gees Lintus 1 Gliclazide 1 Hydralazin 1 Labetalol 1 Metformin 1 Morphine 2 Quetiapine 1 Sulfamethoxazole 1 Tramadol 2 Zopiclone 1

10 Category B2 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in Animals are inadequate or may be lacking, but available data show no evidence of an increased occurrence of fetal damage.

10 Category B3 Drugs that have been taken by only a limited number of pregnant women and women of childbearing age, without an increase in the frequency of malformation or other direct or indirect harmful effects on the human fetus having been observed. Studies in animals have shown evidence of an increased occurrence of fetal damage, the significance of which is considered uncertain in humans.

10 Category C Drugs that, owing to their pharmacological effects, have caused or maybe suspected of causing harmful effects on the human fetus or neonate without causing malformations. These effects may be reversible.

10 Category D Drugs that have caused, are suspected to have caused or may be expected to cause an increased incidence of human fetal malformations or irreversible damage. These drugs may also have adverse pharmacological effects.

List of Abbreviations

ASUM Australasian Society for Ultrasound in Medicine BDM Births Deaths and Marriages BMI Body Mass Index DHB District Health Board EDD Estimated date of delivery GP General Practitioner IQR Inter Quartile Range LMC Lead Maternity Carer LMP Last Menstrual Period MFM Maternal Fetal Medicine NTD Neural Tube Defects OBs Obstetricians PACS Picture Archiving and communication System PDC Perinatal Death Classification PMMRC Perinatal and Maternal Mortality Review Committee PSANZ Perinatal Society of Australia and New Zealand

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