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Can We Detect Congenital Abnormalities Earlier in Pregnancy

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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 i 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. i 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. ii 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. iii • 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. iv 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 v 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 vi List of Figures Figure 1: Definitions of perinatal and infant mortality .............................................................. 2 Figure 2: Pregnancy pathway for detecting fetal abnormalities ..............................................
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