Critical Assessment of Noninvasive Prenatal Testing: Before Or After Anomaly Scan Yaron Zalel
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
First Trimester Anomaly Scan Using Virtual Reality (VR FETUS Study): Study Protocol for a Randomized Clinical Trial C
Pietersma et al. BMC Pregnancy and Childbirth (2020) 20:515 https://doi.org/10.1186/s12884-020-03180-8 STUDY PROTOCOL Open Access First trimester anomaly scan using virtual reality (VR FETUS study): study protocol for a randomized clinical trial C. S. Pietersma1, A. G. M. G. J. Mulders1, L. M. Moolenaar1, M. G. M. Hunink2,3,4, A. H. J. Koning5, S. P. Willemsen6, A. T. J. I. Go1, E. A. P. Steegers1 and M. Rousian1* Abstract Background: In recent years it has become clear that fetal anomalies can already be detected at the end of the first trimester of pregnancy by two-dimensional (2D) ultrasound. This is why increasingly in developed countries the first trimester anomaly scan is being offered as part of standard care. We have developed a Virtual Reality (VR) approach to improve the diagnostic abilities of 2D ultrasound. Three-dimensional (3D) ultrasound datasets are used in VR assessment, enabling real depth perception and unique interaction. The aim of this study is to investigate whether first trimester 3D VR ultrasound is of additional value in terms of diagnostic accuracy for the detection of fetal anomalies. Health-related quality of life, cost-effectiveness and also the perspective of both patient and ultrasonographer on the 3D VR modality will be studied. Methods: Women in the first trimester of a high risk pregnancy for a fetus with a congenital anomaly are eligible for inclusion. This is a randomized controlled trial with two intervention arms. The control group receives ‘care as usual’: a second trimester 2D advanced ultrasound examination. The intervention group will undergo an additional first trimester 2D and 3D VR ultrasound examination. -
Hamilton Radiologu Nuchal Translucencey
PATIENT INFORMATION Advice regarding your 12 week scan Nuchal Translucency HAMILTON RADIOLOGY MEDICAL IMAGING SPECIALISTS YOU’RE IN SAFE HANDS A Few Facts . • The vast majority of babies are born normal. • All women, whatever their age, have a small risk of delivering a baby with physical and/or intellectual impairment. • In some cases the impairment is due to a chromosome abnormality such as Downs Syndrome (Trisomy 21). • The programme will only accept foetuses with a crown rump length between 4.5 and 8.3cm ie within the 11+2 days – 13 weeks 6 days period. Optimal time for this scan is 12–13 weeks. • The scan gives an estimate of the risk for Downs Syndrome. To know for sure whether or not the foetus has a chromosomal abnormality, an invasive test is needed (chorionic villus sampling or amniocentesis). • However, invasive tests carry a small risk of causing miscarriage (1%). • The early scan allows detection of some, but not all, physical defects. A further scan at 19–20 weeks is recommended. Risk for Downs Syndrome The table to the right shows how the chance of having a baby with Downs Syndrome increases with age. The First Trimester Scan At the 12 week scan we confi rm that the foetus is alive and we assess the gestational age by measuring the crown-rump length. We can look for major physical defects, measure nuchal translucency thickness and calculate your baby’s chance of Downs Syndrome based on the scan fi ndings and your age. Occasionally the foetus is not well seen on the abdominal scan and it may be necessary to perform a transvaginal scan. -
Monoamniotic Twins: What Should Be the Optimal Antenatal Management?
Monoamniotic Twins: What Should Be the Optimal Antenatal Management? Ashis K. Sau1, Kate Langford1, Catherine Elliott1, Lin L. Su2, and Darryl J. Maxwell1 1Fetal Medicine Unit, St.Thomas’ Hospital, London, UK 2National University Hospital, Singapore onoamniotic twinning is a rare event with an incidence of London with a high proportion of socially deprived and M1% of all monozygotic twins and associated with a high black, Asian or mixed race peoples. Management protocols fetal morbidity and mortality. Confident early diagnosis is possi- ble, but optimal management is not yet established. This article employed were those of early detection of chorionicity and presents the experience of a single centre in managing all amnionicity, 2-weekly serial ultrasound surveillance and monoamniotic twins diagnosed during 1994–2000. Seven pairs early delivery by elective cesarean section at around 32 of monoamniotic twins were identified for analysis. All were weeks gestation. From 1997, a formal twin ultrasound sur- managed in accord with a unit protocol that involved early diag- veillance clinic was established and first trimester nuchal nosis, serial ultrasound examination and elective early delivery. In four cases, the detection of monoamnionicity was made translucency screening was performed. The same fetal med- during a first trimester nuchal scan. Discordance for structural icine consultant had clinical input into the management of abnormality was found in three cases where the co-twin was all cases. A summary of the cases can be seen in Table 1. normal. Cord entanglement was detected antenatally in four cases. Two pairs of twins died before 20 weeks. One of these Case 1 had early onset twin–twin transfusion syndrome. -
GMEC) Strategic Clinical Networks Reduced Fetal Movement (RFM
Greater Manchester & Eastern Cheshire (GMEC) Strategic Clinical Networks Reduced Fetal Movement (RFM) in Pregnancy Guidelines March 2019 Version 1.3a GMEC RFM Guideline FINAL V1.3a 130619 Issue Date 15/02/2019 Version V1.3a Status Final Review Date Page 1 of 19 Document Control Ownership Role Department Contact Project Clinical Lead Manchester Academic Health [email protected] Science Centre, Division of Developmental Biology and Medicine Faculty of Biology, Medicine and Health, The University of Manchester. Project Manager GMEC SCN [email protected] Project Officer GMEC SCN [email protected] Endorsement Process Date of Presented for ratification at GMEC SCN Maternity Steering Group on:15th February ratification 2019 Application All Staff Circulation Issue Date: March 2019 Circulated by [email protected] Review Review Date: March 2021 Responsibility of: GMEC Maternity SCN Date placed on March 2019 the Intranet: Acknowledgements On behalf of the Greater Manchester and Eastern Cheshire and Strategic Clinical Networks, I would like to take this opportunity to thank the contributors for their enthusiasm, motivation and dedication in the development of these guidelines. Miss Karen Bancroft Maternity Clinical Lead for the Greater Manchester & Eastern Cheshire SCN GMEC RFM Guideline FINAL V1.3a 130619 Issue Date 15/02/2019 Version V1.3a Status Final Review Date Page 2 of 19 Contents 1 What is this Guideline for and Who should use it? ......................................................................... 4 2 What -
Screening for Trisomy 21 in Denmark; Evaluation of the Current and Possible Future Strategies
Faculty of Health Sciences University of Copenhagen Screening for trisomy 21 in Denmark; Evaluation of the current and possible future strategies PhD thesis Charlotte Kvist Ekelund Academic supervisors Ann Tabor, professor, DMSc, Department of Fetal Medicine, Rigshospitalet, University of Copenhagen Olav Bjørn Petersen, PhD, consultant, Department of Obstetrics, Aarhus University Hospital Ida Vogel, DMSc, Head of Department of Clinical Genetics, Aarhus University Hospital Evaluation committee Katja Bilardo, Professor, Head Fetal Medicine Unit, Department of Obstetrics & Gynaecology, University Medical Center Groningen, The Netherlands Michael Christiansen, Head of Molecular Diagnostics, Statens Serum Institute, Copenhagen Lone Krebs, DMSc, Associate professor, consultant, Department of Gynecology and Obstetrics, Holbæk Sygehus, University of Copenhagen The PhD defence will take place Friday the 13th of April 2012, Auditorium B, Teilum, Rigshospitalet, Copenhagen. Acknowledgement This thesis was made possible by help from a number of fantastic supervisors and colleagues. First and foremost, I owe my deepest thanks to Professor Ann Tabor. Thank you for sharing your interest and knowledge in first trimester screening with me, for your professional and personal guidance, for always having time and for showing your confidence in me from the very beginning of the project. Your constructive and focused attitude is admirable and to me you have been an extremely inspiring mentor within all aspects of life. I am greatly indebted to Olav Bjørn Petersen, MD, PhD, one of the most enthusiastic and optimistic persons I know. Your positive attitude, support and encouragement have really helped me through the challenging phases of the project. And my sincere thanks to Ida Vogel, MD, DMSc for taking part in the project, for everything you taught me many years ago and for still being there. -
Antenatal Care: Timetable
Antenatal care: timetable NICE issued guidelines on routine care for the healthy pregnant woman in March 2008. They recommend: 10 antenatal visits in the first pregnancy if uncomplicated 7 antenatal visits in subsequent pregnancies if uncomplicated women do not need to be seen by a consultant if the pregnancy is uncomplicated Gestation Purpose of visit 8 - 12 weeks (ideally < 10 Booking visit weeks) general information e.g. diet, alcohol, smoking, folic acid, vitamin D, antenatal classes BP, urine dipstick, check BMI Booking bloods/urine FBC, blood group, rhesus status, red cell alloantibodies, haemoglobinopathies hepatitis B, syphilis, rubella HIV test is offered to all women urine culture to detect asymptomatic bacteriuria 10 - 13 weeks Early scan to confirm dates, exclude multiple pregnancy 11 - 13+6 weeks Down's syndrome screening including nuchal scan 16 weeks Information on the anomaly and the blood results. If Hb < 11 g/dl consider iron Routine care: BP and urine dipstick 18 - 20+6 weeks Anomaly scan 25 weeks (only if primip) Routine care: BP, urine dipstick, symphysis-fundal height (SFH) 28 weeks Routine care: BP, urine dipstick, SFH Second screen for anaemia and atypical red cell alloantibodies. If Hb < 10.5 g/dl consider iron First dose of anti-D prophylaxis to rhesus negative women 31 weeks (only if primip) Routine care as above 34 weeks Routine care as above Second dose of anti-D prophylaxis to rhesus negative women Information on labour and birth plan 36 weeks Routine care as above Check presentation - offer external cephalic version if indicated Information on breast feeding, vitamin K, 'baby-blues' 38 weeks Routine care as above 40 weeks (only if primip) Routine care as above Discussion about options for prolonged pregnancy 41 weeks Routine care as above Discuss labour plans and possibility of induction 1 Prescribing in pregnant patients Very few drugs are known to be completely safe in pregnancy. -
ANC Level 1 2Nd Edition.Pdf
Pregnancy & Childbirth Management Guidelines Level- 1 A Guide for Nurses, Midwives and Doctors Second Edition DEPARTMENT OF WOMAN &CHILD HEALTH DIRECTORATE GENERAL OF PRIMARY HEALTH CARE MINISTRY OF HEALTH SULTANATE OF OMAN 2016 ML- 60 Pregnancy & Childbirth Management Guidelines Level- 1 A Guide for Nurses, Midwives and Doctors Second Edition 2016 I II ACKNOWLEDGEMENT Acknowledgement with gratitude to all contributors & Reviewers for their effort in updating this guideline manual: Contributors from Woman & Child Health Department: • Dr. Jamila Al-Abri, Senior Specialist, Dept. of Woman & Child Health • Dr. Fatima Al Hinai, Senior Specialist, Director of Woman & Child Health Dept. • Dr. Nawal Al Rashdi, Senior Specialist, Dept. of Woman & Child Health • Dr. Salwa Jabbar Alshahabi, Specialist, Dept. of Woman & Child Health • Dr. Omaima Abdel Wahab, Senior Medical Officer, Dept. of Woman & Child Health. Contributors from Primary Health Care Institutions: • Dr. Nabila Al Wahaibi, Senior Consultant (FAMCO), Wadi Kabeer Health Centre. • Dr. Ahdab Abdul Hafeez, Specialist, Muscat Health Centre. • Dr. Imrana Masoud, Senior Medical Officer, Al Seeb Health Centre. Contributors from National Diabetic & Endocrine Centre & NCD department • Dr. Noor Al Busaidi, Senior Consultant, Director of National Diabetic & Endocrine Centre (NDEC) • Dr. Hilal Al Musailhi, Senior Consultant Adult Endocrinology, (NDEC). • Dr. Deepa Manoharan , Medical Officer, (NDEC). • Dr. Nada Hareb Al Sumri, Senior Specialist, Non Communicable Disease Dept • Dr. Suleiman Al Shereigi, Senior Specialist in Public Health Administration,(NDEC) Reviewers from Secondary & Tertiary Heath Care : • Dr. Tamima Al Dughaishi, Senior Consultant Obstetrics & Gynecology, SQUH • Dr. Bernadette Punnoose, Senior Consultant Obstetrics & Gynecology, Royal Hospital • Dr. Badrya Al Fahdi, Senior Consultant Obstetrics & Gynecology, Royal Hospital • Dr. Sumaya Al Amri, Senior Specialist Obstetrics & Gynecology, Royal Hospital • Dr. -
Prenatal Ultrasonography of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common. -
Downs, Edwards & Pataus Screening Protocol (CG481)
Down’s, Edwards’ and Pataus syndromes screening protocol (CG481) Approval and Authorisation Approval Group Job Title, Chair of Committee Date Maternity Clinical Governance Chair, Maternity Clinical 4th June 2021 Committee Governance Committee Change History Version Date Author, job title Reason 8.0 Mar 2018 Jo Young, AN screening Reviewed and updated to reflect coordinator current practice 8.1 February J Young, AN screening Live change to update reporting 2019 coordinator body to PHE FASP and adjust working practices in line with this change. 8.2 August J Young, AN screening Live change following PHE Audit 2019 coordinator July 2019 Pg 6 – 5.5 The Combined Test gestation period in which NT scan can take place updated to read 11+2 and 14+1 weeks 9.0 March 2020 J Young, AN screening Reviewed, changes throughout to coordinator reflect current practice pg 5 – 16 and introduction of new MATSOP039 and update of consent form 10.0 May 2021 S Lindsay-Birch, ANNB Live change to reflect process post Screening Specialist MW Go Live and introduction of NIPT from 1/6/21 ................................................................................................................................................................... This protocol should be read in conjunction with the following: • Antenatal Screening protocol (CG474) • MAT-SOP-039 NT daily failsafe (WBCH only) Author: S Lindsay-Birch Date: June 2021 Job Title: ANNB Screening Specialist MW Review Date: June 2023 Policy Lead: Group Director Urgent Care Version: V10.0 Location: Policy hub/ Clinical/ Maternity/ Antenatal/ CG481 This document is valid only on date last printed Page 1 of 19 Maternity guidelines – Downs, Edwards & Pataus syndromes screening protocol (CG481) June 2021 Contents 1.0 Purpose ............................................................. -
Fetal Medicine August 2010
Advanced Training Skills Module – Fetal Medicine August 2010 Fetal Medicine This module is designed to prepare the future consultant for dealing with congenital abnormalities detected during pregnancy. This includes the organisation and supervision of screening programmes for structural and chromosomal anomalies. Many of these cases need to be managed within a multidisciplinary team which includes clinical geneticists and fetal medicine subspecialists. Apart from a sound knowledge of embryology and fetal physiology, clinicians working in this field must be competent in the prenatal diagnosis of common abnormalities. They also require a sound working knowledge of clinical and laboratory genetics in order that they can investigate and, where appropriate, refer suitable families. Competence in obstetric ultrasound is a prerequisite for advanced skills in prenatal diagnosis and fetal medicine. Trainees must complete the new Intermediate Ultrasound of Fetal Anatomy module prior to entry into the ATSM in Fetal Medicine. Attendance at a suitable Fetal Medicine theoretical course is a compulsory requirement of the module. This must be attended before completion of the ATSM and can have been done not more than three years previously. Specifically, once trained, individuals should: Work well as part of a multidisciplinary team Understand the organization of prenatal screening and diagnostic services at a local and regional level Be clinically competent in the prenatal diagnosis, counselling and management of common fetal abnormalities and markers of chromosomal abnormality. Be clinically competent and certified in first trimester screening for chromosomal abnormality by a combination of nuchal translucency assessment and biochemical marker assays. Be clinically competent at amniocentesis and have a sound knowledge of the principles and techniques of first trimester chorion villus biopsy. -
The Effect of Progesterone Use in the First Trimester on Fetal Nuchal Translucency
Original Investigation 29 The effect of progesterone use in the first trimester on fetal nuchal translucency Müberra Namlı Kalem1, Ziya Kalem2, Batuhan Bakırarar3, Ali Ergün1, Timur Gürgan2 1Clinic of Obstetrics and Gynecology, Liv Hospital, Ankara, Turkey 2Gürgan Clinic IVF and Women Health Center, Ankara, Turkey 3Department of Biostatistic, Ankara University School of Medicine, Ankara, Turkey Abstract Objective: To evaluate the possible association between progesterone use in the first trimester of pregnancy and fetal nuchal translucency (NT). Material and Methods: This is an observational case-control study, which was conducted with patients who underwent nuchal scans between March 2015 and February 2016 and consequently delivered live and healthy babies. The study group was composed of assisted reproductive technology pregnancies and used intravaginal progesterone 180 mg/day until gestational week 12. The control group comprised pregnant women who became pregnant spontaneously without using any progesterone preparation in the first trimester. Results: One hundred sixty-four (57.5%) of 285 patients were in the control group and 121 (42.5%) were in the progesterone group. Age, bodyweight, gravidity, and parity number of previous births and abortus, gestational week, crown-rump lengths, free β-human chorionic gonadotropin, pregnancy-associated plasma protein A, and NT values of the progesterone and control groups were recorded and we investigated whether there was a statistically significant difference between the two groups in terms of these parameters; maternal weight was found to be higher in the progesterone group than in the control group and the difference between the groups was statistically significant (p=0.019 and p=0.025). -
The Identification and Validation of Neural Tube Defects in the General Practice Research Database
THE IDENTIFICATION AND VALIDATION OF NEURAL TUBE DEFECTS IN THE GENERAL PRACTICE RESEARCH DATABASE Scott T. Devine A dissertation submitted to the faculty of the University of North Carolina at Chapel Hill in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the School of Public Health (Epidemiology). Chapel Hill 2007 Approved by Advisor: Suzanne West Reader: Elizabeth Andrews Reader: Patricia Tennis Reader: John Thorp Reader: Andrew Olshan © 2007 Scott T Devine ALL RIGHTS RESERVED - ii- ABSTRACT Scott T. Devine The Identification And Validation Of Neural Tube Defects In The General Practice Research Database (Under the direction of Dr. Suzanne West) Background: Our objectives were to develop an algorithm for the identification of pregnancies in the General Practice Research Database (GPRD) that could be used to study birth outcomes and pregnancy and to determine if the GPRD could be used to identify cases of neural tube defects (NTDs). Methods: We constructed a pregnancy identification algorithm to identify pregnancies in 15 to 45 year old women between January 1, 1987 and September 14, 2004. The algorithm was evaluated for accuracy through a series of alternate analyses and reviews of electronic records. We then created electronic case definitions of anencephaly, encephalocele, meningocele and spina bifida and used them to identify potential NTD cases. We validated cases by querying general practitioners (GPs) via questionnaire. Results: We analyzed 98,922,326 records from 980,474 individuals and identified 255,400 women who had a total of 374,878 pregnancies. There were 271,613 full-term live births, 2,106 pre- or post-term births, 1,191 multi-fetus deliveries, 55,614 spontaneous abortions or miscarriages, 43,264 elective terminations, 7 stillbirths in combination with a live birth, and 1,083 stillbirths or fetal deaths.