Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21"

Transcription

1 Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21 Jane Serene, MS3 Core Radiology Clerkship Beth Israel Deaconess Medical Center

2 Nuchal translucency-based screening for fetal abnormalities has truly become an indispensable aspect of contemporary obstetric practice. (Soha Said, Clinical Obstetrics and Gynecology, March 2008)

3 Agenda Introduction to Our Patients Definition of Nuchal Translucency and Measurement Criteria NT in Trisomy 21 Screening Advantages/Limitations of NT Screening Differential Diagnosis of Increased NT Mechanisms of Increased NT Fetal Anomalies associated with Increased NT Follow-up on Our Patients

4 Two Patients With Increased Fetal Risk for Trisomy 21 Our First Patient Our Second Patient 41 year-old, G5P2, with singleton pregnancy 40 year-old, G3P1, with singleton pregnancy Presents for early OB ultrasound (<14 weeks) Presents for early OB ultrasound Nuchal translucency = 4mm Nuchal translucency = 2.7mm

5 Defining Nuchal Translucency Fluid between skin and soft tissue at back of fetal neck Trans-abdominal OB U/S, sagittal view Can be seen sonographically in all first trimester fetuses Criteria for Increased NT: -NT > 3mm -Depends on gestational age (Most accurately expressed as multiple of the median) [3] Increased NT PACS, BIDMC

6 Criteria for NT Measurement (1) Trans-abdominal OB U/S, sagittal view PACS, BIDMC 1.Crown-Rump Length = 45-84mm (approximately 11-14wks). 14wks). 2.Mid-sagittal plane with fetus in neutral position: Neck flexion decreases NT; Neck extension increases NT.

7 Criteria for NT Measurement (2) Trans-abdominal OB U/S, sagittal view Findings: 1. Nasal Bone 2. Chin 3. Increased NT (4.2mm) PACS, BIDMC 3.Enlarge image: upper 2/3 of fetus. 4.Identify potential false positives: non-fused amnion, nuchal cord, neck extension. 5.Measure maximal translucency in greatest dimension: from outer soft tissue edge to inner nuchal membrane edge.

8 Inaccurate NT Measurement Trans-abdominal OB U/S, sagittal view 1. Not midline view: Nasal bone and chin not visible. 2. Difficult to separate fetal skin from amnion. BIDMC-PACS

9 How does Nuchal Translucency fit into screening for Trisomy 21?

10 The Combined Test Nuchal Translucency measurement between weeks Maternal Serum Markers 1.Free beta-hcg: Elevated in T21 2.Pregnancy-associated associated plasma protein A (PAPP-A): A): Decreased in T21

11 Practice Guidelines for Trisomy 21 Screening ACOG 2007: All women should be offered aneuploidy screening before 20wks gestation. -using maternal age alone to triage patients into diagnostic testing misses 50% of T21 pregnancies that occur in women <35 y/o. -noninvasive screening tests enable women to be more certain of their t actual risk for T21, which they can then weigh against the risk of invasive diagnostic testing. Ideal Screening: Combined Test in First Trimester with follow-up depending on results. Choose type of screening based on tests available in your area, patient s wishes, and patient s risk factors. ACOG Practice Bulletin 77: Screening for Fetal Chromosomal Abnormalities. Obstetrics and Gynecology. 109:1. Jan

12 Comparing Screening Methods for T21 Gestational Age Detection Rate/Sensitivity False Positive Rate Nuchal Translucency + Maternal Age Combined Test: Age + NT + PAPP-A A + Beta- hcg weeks 72-77% 77% 4.2-5% weeks 85% 4.8 Full Integrated Test: Combined Test + Quad Screen weeks weeks 85% 90-95% 95% 1% 2.6-5% Serum Integrated Test: PAPP-A A + Quad Screen (No U/S) weeks weeks 85% 3.5% Quad Screen: serum AFP, ue3, hcg, inhibin A weeks 85% 6.8% *All data from FASTER (First and Second Trimester Evaluation of Risk) and SURUSS (Serum, Urine and Ultrasound Screening Study) Trials. Barss VA et al. Overview of prenatal screening for Down syndrome. UpToDate <

13 Advantages of Screening with The Combined Test Abnormal Test First-trimester trimester identification of patients at high-risk for fetal anomalies. -Allows for early therapeutic abortion. -Enables pre-natal planning for care of affected child. Triage patients for further testing, which improves cost-effective use of resources. Normal Test Lowers overall risk of advanced maternal age patients. -Decreases use of invasive diagnostic procedures (CVS, amniocentesis) -Decreases procedure- associated fetal loss. Reduces anxiety.

14 Limitations of The Combined Test NT measurement is operator dependent and requires special training. A significant number of patients do not get prenatal care until the 2 nd trimester. 20% of obstetric patients are not being offered this test in spite of research demonstrating its efficacy. Anxiety-provoking when positive. If patients do not want CVS, they must wait 4 weeks for amniocentesis.

15 You identify a neck mass during first trimester ultrasound screening. What do you need to rule out before diagnosing increased nuchal translucency?

16 Differential Diagnosis: 1 st Trimester Neck Mass Hydrops Hydrops fetalis Cystic Cystic Hygroma Nonfused amnion Nuchal Nuchal cord Less Common: Branchial cleft cyst, hemangioma, neuroblastoma. Trans-abdominal OB U/S, axial view of fetal head Septated Cystic Hygroma Courtesy of Koeller KK, et al. Congenital Cystic Masses of the Neck: Radiologic-Pathologic Correlation. Radiographics, 1999;19:

17 Potential Mechanisms for Increased Nuchal Translucency 1.Heart strain/failure 2.Abnormal lymphatic drainage increased # or size of lymphatics, irregular connection between lymphatics and veins, impaired fetal movement. 3.Abnormal extracellular matrix Trans-abdominal OB U/S, sagittal view PACS, BIDMC

18 Fetal Abnormalities Associated with Increased NT Chromosomally Abnormal Trisomy 13 Trisomy 18 Trisomy 21 Turner s Syndrome Triploidy Unbalanced translocations Chromosomally Normal CNS defects Diaphragmatic hernia Omphalocele Myotonic Dystrophy Esophageal Atresia Infantile PCKD Achondroplasia Fetal Anemia Metabolic defects (and others)

19 Increased NT and Fetal Abnormalities: An Important Caveat Increased NT is NOT a fetal anomaly in and of itself. 90% of chromosomally normal fetuses with NT<4.5mm go on to be healthy, live-born infants. If there are no abnormalities on targeted ultrasound at weeks, there is no increased risk of poor outcome. There is no increased prevalence of developmental delay associated with increased NT.

20 Back to Our First Patient

21 Patient 1: Fetal Ultrasound Trans-abdominal OB U/S, sagittal view 41 y/o G5P2 Sent for early OB ultrasound to evaluate NT secondary to Advanced Maternal Age PAPP-A and beta-hcg levels unknown CRL =55.2mm PACS, BIDMC

22 Patient 1: NT Measurement on Fetal US Trans-abdominal OB U/S, midline sagittal view NT = 4.1mm PACS, BIDMC

23 Outcome for Our First Patient: Trisomy 21 Final NT Measurement = 4.0mm Follow-up: 1.Amniocentesis at 16 weeks: 47, XX, Full Fetal Survey at 21w6d: common AV canal. 3.Ultrasound at 33w2d: size<dates, oligohydramnios,, no duodenal atresia. 4.Uncomplicated delivery at 38w6d.

24 Patient 2: Fetal Ultrasound 40 y/o G3P1 Combined Test Results: 1.Decreased PAPP-A 2.Increased hcg 3.Ultrasound -CRL = 63.6mm Trans-abdominal OB U/S, sagittal view PACS, BIDMC

25 Patient 2: NT Measurement on Fetal US Trans-abdominal OB U/S, midline sagittal view NT = 2.7mm PACS, BIDMC

26 Outcome for Our Second Patient: Normal Fetus Final NT Measurement= 2.6mm Follow-up: 1.Full Fetal Survey at 16w0d: No abnormalities. 2.Patient declined amniocentesis. 3.Quad Screen at 19w1d: Lowered T21 risk 4.Delivered healthy baby girl at 40w5d.

27 Summary Nuchal Translucency, as part of the Combined Test, is an effective and accurate method of screening for fetal anomalies, especially Trisomy 21. Sensitive, non-invasive screening tests ensure that only those pregnancies at high-risk for abnormalities undergo invasive diagnostic procedures. Ultrasonographers must be carefully trained in NT measurement. All women who receive aneuploidy screening should be appropriately counseled and provided with thorough follow- up.

28 Acknowledgements Dr. Hope Ricciotti Maria Levantakis Dr. Prachi Dubey Dr. Rola Shaheen Dr. Colin McCardle Dr. Gail Birch Dr. Gillian Lieberman

29 Resources ACOG Practice Bulletin 77: Screening for Fetal Chromosomal Abnormalities. Obstetrics and Gynecology, 109:1. Jan Barss VA, et al. Overview of prenatal screening for Down syndrome. UpToDate (5/23/08) Benacerraf, BR. The sonographic diagnosis of fetal aneuploidy. UpToDate (5/16/08) Jackson M and Rose NC. Diagnosis and Management of Fetal Nuchal Translucency. Seminars in Roentgenology, Vol XXXIII, No 4. Oct. 1998: pp Koeller KK, et al. Congenital Cystic Masses of the Neck: Radiologic iologic-pathologic Correlation. Radiographics, 1999;19: Kurtz AB and Needleman L. American College of Radiology Standards: ds: Obstetrical Measurements. Seminars in Roentgenology, Vol XXXIII, No 4. Oct. 1998: pp Nyberg DA, et al. First-Trimester Screening. Radiologic Clinics of North America. 2006;44: Reeder, MM. Gamuts in Radiology: Comprehensive List of Roentgen Differential Diagnosis. 4 th Ed. New York: Springer, Said S, Malone FD. The Use of Nuchal Translucency in Contemporary ry Obstetric Practice. Clinical Obstetrics and Gynecology. 51:1. March 2008.

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Britton Rink, MD, MS The Ohio State University Division of Maternal Fetal Medicine ACOG Practice Bulletin January 2007 Screening

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

The 11 13 +6 weeks scan

The 11 13 +6 weeks scan The 11 13 +6 weeks scan Kypros H. Nicolaides The 11 13 +6 weeks scan Fetal Medicine Foundation, London 2004 Dedication to Herodotos & Despina Contents Introduction 1. First trimester diagnosis of chromosomal

More information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

Non-Invasive Prenatal Testing (NIPT) Factsheet

Non-Invasive Prenatal Testing (NIPT) Factsheet Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.

More information

The California Prenatal Screening Program

The California Prenatal Screening Program The California Prenatal Screening Program Provider ook netic Disease Screening Program Quad Marker Screening Serum Integrated Screening Full Integrated Screening TABLE OF CONTENTS WELCOME to the California

More information

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас...

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас... АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ. 113-118, 2005 fi АУ : Аяapplefi. fiapple АсА» Ас Ам, длappleapple Ас..., Ая: Аяapplefi. fiapple, АВАУ Ас, АсА» Ас Ам длappleapple

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

Clinical Studies Abstract Booklet

Clinical Studies Abstract Booklet Clinical Studies Abstract Booklet The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) that assesses the risk of trisomies by analyzing cell-free DNA (cfdna) in maternal blood. Since January

More information

The ultrasound detection of chromosomal anomalies 1

The ultrasound detection of chromosomal anomalies 1 The ultrasound detection of chromosomal anomalies 1 Werther Adrian Clavelli, MD 2, Silvia Susana Romaris de Clavelli, MD 2, Philippe Jeanty, MD, PhD 3 Adapted from The Ultrasound Detection of Chromosomal

More information

CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN

CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN Arlene J. Smith, CPC AAPC National Advisory Board 2007-2009 1 So when exactly does the global period start? Unraveling the confusion in antepartum care coding Correct coding for multiple gestations! Vaginal

More information

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT What is PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT Through cfdna analysis from maternal plasma, PrenatalSAFE Karyo detects: Aneuploidies structural chromosomal aberrations

More information

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M.

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. O Brien, MD Women & Infants Hospital Alpert Medical School of Brown University Providence, RI Women & Infants

More information

A test your patients can trust.

A test your patients can trust. A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

The California Prenatal Screening Program

The California Prenatal Screening Program The California Prenatal Screening Program Quad Marker Screening One blood specimen drawn at 15 weeks - 20 weeks of pregnancy (second trimester) Serum Integrated Screening Prenatal Patient Booklet - English

More information

Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow

Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow Ultrasound Obstet Gynecol 1998;12:380 384 Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow A. Matias*, C. Gomes*, N. Flack*, N. Montenegro and K. H. Nicolaides*

More information

Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester

Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester PRENATAL DIAGNOSIS Prenat Diagn 2000; 20: 390±394. Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester Kevin Spencer 1 *, Natasha Tul 2 and Kypros H. Nicolaides 2

More information

Down s Syndrome: Ultrasound Screening

Down s Syndrome: Ultrasound Screening October 2001 Down s Syndrome: Ultrasound Screening Hilary Hochberg Advanced Radiology Clerkship Dr. Gillian Lieberman Patient M.C. 32 year old female presents at 16 weeks gestational age with abnormal

More information

Fetal Prognosis in Varix of the Intrafetal Umbilical Vein

Fetal Prognosis in Varix of the Intrafetal Umbilical Vein Fetal Prognosis in Varix of the Intrafetal Umbilical Vein Waldo Sepulveda, MD, Antonio Mackenna, MD, Jorge Sanchez, MD, Edgardo Corral, MD, Eduardo Carstens, MD To assess the clinical significance of varix

More information

FIGO Good Practice Advice

FIGO Good Practice Advice FIGO Good Practice Advice 1. Screening for chromosomal abnormalities and non invasive prenatal diagnosis and testing Universal screening is a strategy applied to all individuals of a certain category to

More information

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Susan S. Garfield, DrPH; Shannon O. Armstrong, BA Summary Background:

More information

Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy

Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy Testing and pregnancy GP s role 3 Counselling before and during pregnancy 3 Collecting the family history

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: maternal_and_fetal_diagnostics 1/2000 3/2016 3/2017 3/2016 Description of Procedure or Service Fetal diagnostic

More information

Clinical Significance of First Trimester Umbilical Cord Cysts

Clinical Significance of First Trimester Umbilical Cord Cysts Clinical Significance of First Trimester Umbilical Cord Cysts Waldo Sepulveda, MD, Sergio Leible, MD, Angel Ulloa, MD, Milenko Ivankovic, MD, Carlos Schnapp, MD A cystic mass of the umbilical cord was

More information

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome)

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome) Trisomies 13 and 18 (Patau and Edward s syndrome) Trisomy 21 (Down syndrome) is the commonest chromosomal disorder at birth, and has been considered in detail in previous annual reports 23. Other relatively

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at 11 + 0to13+ 6 weeks

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at 11 + 0to13+ 6 weeks Ultrasound Obstet Gynecol 2006; 27: 151 155 Published online 30 December 2005 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.2699 Screening for trisomy 21 by fetal tricuspid regurgitation,

More information

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Patient Education intermountainhealthcare.org A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Most news is good news. Most babies are born without major birth defects. Early in your pregnancy,

More information

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Scuola di specializzazione in Genetica Medica Journal Club 14 gennaio 2014 MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Bianchi, Diana W. MD; Prosen,

More information

Prenatal Testing Special tests for your baby during pregnancy

Prenatal Testing Special tests for your baby during pregnancy English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people

More information

Sonographic Appearance of Early Complete Molar Pregnancies

Sonographic Appearance of Early Complete Molar Pregnancies Sonographic Appearance of Early Complete Molar Pregnancies Elizabeth Lazarus, MD, Carol A. Hulka, MD, Bettina Siewert, MD, Deborah Levine, MD Since our anecdotal experience indicates that the classically

More information

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal

More information

Frontomaxillary and mandibulomaxillary facial angles at 11 + 0to13+ 6 weeks in fetuses with trisomy 18

Frontomaxillary and mandibulomaxillary facial angles at 11 + 0to13+ 6 weeks in fetuses with trisomy 18 Ultrasound Obstet Gynecol 2007; 30: 928 933 Published online 1 November 2007 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.2/uog.5188 Frontomaxillary and mandibulomaxillary facial angles

More information

Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester

Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester Peter M. Doubilet, MD, PhD, Carol B. Benson, MD, Jeanne S. Chow, MD Slow embryonic heart rates

More information

Escondido OB-GYN Medical Group, Inc. dba. 488 East Valley Parkway, Escondido, CA 92025

Escondido OB-GYN Medical Group, Inc. dba. 488 East Valley Parkway, Escondido, CA 92025 We appreciate you choosing North County Women s Specialists for your healthcare needs. We continually strive to provide the highest quality gynecologic and obstetric healthcare in a professional caring

More information

SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item April Birth defects. Report by the Secretariat

SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item April Birth defects. Report by the Secretariat SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item 11.7 1 April 2010 Birth defects Report by the Secretariat 1. The report aims to inform the discussion on birth defects, including definition,

More information

cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation.

cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation. Reports of Major Impact www.ajog.org Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population Kypros H. Nicolaides, MD; Argyro Syngelaki, RM; Ghalia Ashoor, MD;

More information

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome 1 Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome Nicholas J Wald FRS* Wolfson Institute of Preventive Medicine Barts and the London School of Medicine and Dentistry

More information

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies No. 261 (Replaces No. 187, February 2007) Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies This clinical practice guideline has been prepared by the Genetics Committee of the Society of

More information

Birth defects. Report by the Secretariat

Birth defects. Report by the Secretariat EXECUTIVE BOARD EB126/10 126th Session 3 December 2009 Provisional agenda item 4.7 Birth defects Report by the Secretariat 1. In May 2009 the Executive Board at its 125th session considered an agenda item

More information

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST

More information

a new era in prenatal testing

a new era in prenatal testing TM a new era in prenatal testing TM What is? Non-Invasive Prenatal Testing (NIPT) represents a major advance in screening and risk assessment for chromosomal abnormalities. In January 2016, the UK National

More information

Prenatal Screening Policies in Europe

Prenatal Screening Policies in Europe Prenatal Screening Policies in Europe 2010 EUROCAT Central Registry Room 12L09, University of Ulster Newtownabbey, Co Antrim Northern Ireland, BT37 0QB Tel: +44 (0)28 90366639 Fax: +44 (0)28 90368341 Email:

More information

Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester?

Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester? Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester? Laurence E. Shields, MD, Leslie A. Carpenter, MS, CGC, Karin M. Smith, RDMS, Hanh V. Nghiem, MD The objective of

More information

Ultrasound scans in pregnancy

Ultrasound scans in pregnancy Ultrasound scans in pregnancy www.antenatalscreening.wales.nhs.uk Copyright 2016 Public Health Wales NHS Trust. All rights reserved. Not to be reproduced in whole or in part without the permission of the

More information

Non-invasive prenatal testing. Contents:

Non-invasive prenatal testing. Contents: february 2014 A REGULAR CASE-BASED SERIES ON PRACTICAL PATHOLOGY FOR GPs Contents: What is non-invasive prenatal testing? Screening test vs diagnostic tests Case studies Who should be offered NIPT? Non-invasive

More information

Department of Obstetrics and Gynecology, Kayseri Military Hospital, Kayseri, Turkey

Department of Obstetrics and Gynecology, Kayseri Military Hospital, Kayseri, Turkey Orıgınal Article Obstetrics & Gynecology North Clin Istanbul 2015;2(2):92-100 doi: 10.14744/nci.2015.08370 A prospective study to assess the clinical impact of interobserver reliability of sonographic

More information

Patient information on soft markers

Patient information on soft markers Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy

More information

Executive summary. Current prenatal screening

Executive summary. Current prenatal screening Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests

More information

Cytogenetic and Molecular Diagnosis in Gestational Disorders

Cytogenetic and Molecular Diagnosis in Gestational Disorders Cytogenetic and Molecular Diagnosis in Gestational Disorders Katherine Geiersbach, M.D. Assistant Professor, Department of Pathology University of Utah School of Medicine Medical Director, Cytogenetics

More information

i_~~~~~~~~~~~~~~~~~~~~- A _L,"'...S.::.. E, pad - report of 92 cases with follow up of Antenatal diagnosis of cystic hygroma or nuchal survivors

i_~~~~~~~~~~~~~~~~~~~~- A _L,'...S.::.. E, pad - report of 92 cases with follow up of Antenatal diagnosis of cystic hygroma or nuchal survivors F38 Archives ofdisease in Childhood 1996; 74: F38-F42 Antenatal diagnosis of cystic hygroma or nuchal pad - report of 92 cases with follow up of survivors P A Boyd, M Y Anthony, N Manning, C Lara Rodriguez,

More information

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction Meiosis I Meiosis II Centromere-linked markers Female Male 46,XX 46,XY Human chromosomal abnormalities may be numerical or structural.

More information

A test your patients can trust. A company you know and trust.

A test your patients can trust. A company you know and trust. A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation

More information

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation American Journal of Obstetrics and Gynecology (2006) 194, 397 401 www.ajog.org Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation Aris T. Papageorghiou, MD, a Kyriaki Avgidou, MD, a

More information

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions

More information

Le dépistage prénatal First-trimester syndrome de Down. grossesse aneuploidies SUMMARY AGENCE D ÉVALUATION DES TECHNOLOGIES

Le dépistage prénatal First-trimester syndrome de Down. grossesse aneuploidies SUMMARY AGENCE D ÉVALUATION DES TECHNOLOGIES Le dépistage prénatal du First-trimester syndrome de Down et prenatal d autres screening aneuploïdies au for premier Down trimestre syndrome de la and grossesse other aneuploidies SUMMARY AGENCE D ÉVALUATION

More information

First-trimester prenatal screening for Down syndrome and other aneuploidies AGENCE D ÉVALUATION DES TECHNOLOGIES ET DES MODES D INTERVENTION EN SANTÉ

First-trimester prenatal screening for Down syndrome and other aneuploidies AGENCE D ÉVALUATION DES TECHNOLOGIES ET DES MODES D INTERVENTION EN SANTÉ First-trimester prenatal screening for Down syndrome and other aneuploidies AGENCE D ÉVALUATION DES TECHNOLOGIES ET DES MODES D INTERVENTION EN SANTÉ First-trimester prenatal screening for Down syndrome

More information

Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System

Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System TERATOLOGY 64:S20 S25 (2001) Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System MATHIAS B. FORRESTER AND RUTH D. MERZ* Hawaii Birth Defects Program, Honolulu, Hawaii 96817 ABSTRACT

More information

Best Second Trimester Sonographic Markers for the Detection of Trisomy 21

Best Second Trimester Sonographic Markers for the Detection of Trisomy 21 Best Second Trimester Sonographic Markers for the Detection of Trisomy 21 Patrizia Vergani, MD, Anna Locatelli, MD, Maria Giovanna Piccoli, MD, Patrizia Ceruti, MD, Eloisa Mariani, MD, John C. Pezzullo,

More information

Trisomy 13 (also called Patau s syndrome or T13)

Trisomy 13 (also called Patau s syndrome or T13) Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help

More information

Noninvasive prenatal screen for pregnancy

Noninvasive prenatal screen for pregnancy Noninvasive prenatal screen for pregnancy What is QNatal TM Advanced Noninvasive Prenatal Screening? The QNatal Advanced prenatal screen is a noninvasive test that provides a high degree of accuracy for

More information

Placenta, Cord, & Fluid

Placenta, Cord, & Fluid , Cord, & Fluid Abruption Accreta/Increta/Percreta Chorioangioma Complete Partial Not generally Relevant to U/S Gestational Age (Weeks) Distance from 16-23.9 24 to Internal Os >20 mm No No 11-20 mm 0-10

More information

Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound

Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound DOI: 10.1002/pd.2938 ORIGINAL ARTICLE Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound Nicola Persico 1,2 *, Francisca Molina 3, Guillermo Azumendi

More information

journal of medicine The new england First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome abstract

journal of medicine The new england First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome abstract The new england journal of medicine established in 1812 november 10, 2005 vol. 353 no. 19 First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome Fergal D. Malone, M.D., Jacob A. Canick,

More information

Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being

Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being Optimizes detection of congenital heart disease (chd) in the general low risk obstetrical population Daniel J. Cohen, M.D. danjcohen@optonline.net

More information

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands FVV in ObGyn, 2014, 6 (1): 7-12 Preliminary report The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands P.J. Willems 1, H. Dierickx 1, ES. Vandenakker

More information

Genetics and Pregnancy Loss

Genetics and Pregnancy Loss Genetics and Pregnancy Loss Dorothy Warburton Genetics and Development (in Pediatrics) Columbia University, New York Estimates of Pregnancy Loss from Conception 1000 fertilized eggs (27% are lost) 728

More information

Knowledge and Perception of the Role of Targeted Ultrasound in Detecting Down Syndrome Among a High Risk Population

Knowledge and Perception of the Role of Targeted Ultrasound in Detecting Down Syndrome Among a High Risk Population Texas Medical Center Library DigitalCommons@The Texas Medical Center UT GSBS Dissertations and Theses (Open Access) Graduate School of Biomedical Sciences 5-2011 Knowledge and Perception of the Role of

More information

Pregnancy Care. Pregnancy and Childbirth Patient Education Information. Women s Health Program. Obstetrics and Gynecology

Pregnancy Care. Pregnancy and Childbirth Patient Education Information. Women s Health Program. Obstetrics and Gynecology Pregnancy and Childbirth Patient Education Information Women s Health Program Table of Contents: How Often Should My Baby Move?...3 Kick Counts......3 How To Do a Kick Count...3 Genetic Screening Tests...5

More information

Early (14-16 week) scan vs

Early (14-16 week) scan vs Early (14-16 week) scan vs late (18-22 week) scan Logie Govender Maternal & Fetal Medicine Lower Umfolozi District War Memorial Hospital, Empangeni Nelson R Mandela School of Medicine University of KwaZulu-Natal

More information

Clinical Guideline: Routine and High Risk Prenatal Care

Clinical Guideline: Routine and High Risk Prenatal Care Clinical Guideline: Routine and High Risk Prenatal Care Relevance to Population: Two maternal risk factors which can affect prenatal care are smoking and depression. Smoking is associated with increased

More information

Optional Tests Offered Before and During Pregnancy

Optional Tests Offered Before and During Pregnancy Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth

More information

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and

More information

Dose dependency between cigarette consumption and reduced maternal serum PAPP-A levels at weeks of gestation

Dose dependency between cigarette consumption and reduced maternal serum PAPP-A levels at weeks of gestation PRENATAL DIAGNOSIS Prenat Diagn 2007; 27: 849 853. Published online 25 June 2007 in Wiley InterScience (www.interscience.wiley.com).1793 Dose dependency between cigarette consumption and reduced maternal

More information

GE Healthcare VOLUSON 730 PRO The Diamond Release

GE Healthcare VOLUSON 730 PRO The Diamond Release GE Healthcare VOLUSON 730 PRO The Diamond Release imagination at work VOLUSON 730 PRO The Standard in Women's Healthcare 4D Dedication Dimensional Diagnostic Digital GE Healthcare continues to elevate

More information

CONGENITAL HEART DISEASE

CONGENITAL HEART DISEASE CONGENITAL HEART DISEASE Introduction Congenital heart disease (CHD) is the most common congenital disorder in newborns [1]. Due to definitional issues, there are large variations in prevalence estimates.

More information

Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities

Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities CME Article Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities Deniz Oztekin, MD, Ozgur Oztekin, MD, Fatma I. Aydal, MD, Sivekar Tinar, MD, Zehra H. Adibelli, MD Objective. The purpose

More information

Triploidy. rarechromo.org

Triploidy. rarechromo.org Triploidy rarechromo.org Triploidy Triploidy is a disorder that arises at conception when a baby starts life in the womb with a complete extra set of chromosomes. Chromosomes are the microscopically small

More information

New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital

New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital New Prenatal Tests for Down Syndrome: International Updates and What This All Means for Your Family Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital Band of Angels

More information

Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy

Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy The Royal Australian and New Zealand College of Obstetricians and Gynaecologists Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy This statement has been

More information

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods 29 ABNORMAL CARDIAC FINDINGS IN PRENATAL SONOGRAPHIC EXAMINATION: AN IMPORTANT INDICATION FOR FETAL ECHOCARDIOGRAPHY? RIMA SAMI BADER Aim: The present study was conducted to evaluate the most common indications

More information

For the full report please visit the Victorian Birth Defects Register Website:

For the full report please visit the Victorian Birth Defects Register Website: Summary of ten most frequently reported birth defects in Victoria 2003-2004 The Victorian Birth Defects Register has collected information on birth defects in all reported pregnancies occurring in Victoria

More information

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 09/01/2013

More information

An OB US protocol book is available in the reading room to help you learn what is needed for problem cases.

An OB US protocol book is available in the reading room to help you learn what is needed for problem cases. HIGH RISK OBSTETRIC ULTRASOUND GUIDELINES Dolores H. Pretorius, M.D., Mary K. O Boyle M.D. and Lori Romine M.D. The obstetric ultrasound rotation is designed to emphasize an experience that relies on a

More information

Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers

Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers DOI: 10.1002/pd.4019 ORIGINAL ARTICLE Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers Kevin Spencer* and Nicholas J. Cowans

More information

Choosing Wisely. Obstetrics / Maternal Fetal Medicine Things Providers and Patients Should Question

Choosing Wisely. Obstetrics / Maternal Fetal Medicine Things Providers and Patients Should Question Choosing Wisely Obstetrics / Maternal Fetal Medicine Things Providers and Patients Should Question Michelle Owens, MD, FACOG David Rindfusz, MD, FACOG April Bleich, MD, FACOG Kathleen Crowley, MD 1 Discuss

More information

Gutenberg Center in MALAGA

Gutenberg Center in MALAGA Introduction Gutenberg Center in MALAGA Gutenberg Center in Málaga opened in 1987 as a clinic to provide integral assisstance for women, divided into 6 Units, specialized in the different aspects of Obs

More information

First- and Second-Trimester Evaluation of Risk for Down Syndrome

First- and Second-Trimester Evaluation of Risk for Down Syndrome Original Research First- and Second-Trimester Evaluation of Risk for Down Syndrome Robert H. Ball, MD, Aaron B. Caughey, MD, MPP, Fergal D. Malone, MD, David A. Nyberg, MD, Christine H. Comstock, MD, George

More information

Evaluation and Follow-up of Fetal Hydronephrosis

Evaluation and Follow-up of Fetal Hydronephrosis Evaluation and Follow-up of Fetal Hydronephrosis Deborah M. Feldman, MD, Marvalyn DeCambre, MD, Erin Kong, Adam Borgida, MD, Mujgan Jamil, MBBS, Patrick McKenna, MD, James F. X. Egan, MD Objective. To

More information

RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI

RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before

More information

a. General Rules for Obstetric Cases

a. General Rules for Obstetric Cases 15. Chapter 15: Pregnancy, Childbirth, and the Puerperium (O00-O9A) a. General Rules for Obstetric Cases 1) Codes from chapter 15 and sequencing priority Obstetric cases require codes from chapter 15,

More information

Prognosis of Very Large First-Trimester Hematomas

Prognosis of Very Large First-Trimester Hematomas Case Series Prognosis of Very Large First-Trimester Hematomas Juliana Leite, MD, Pamela Ross, RDMS, RDCS, A. Cristina Rossi, MD, Philippe Jeanty, MD, PhD Objective. The aim of this study was to evaluate

More information

Clinical Policy: Ultrasound in Pregnancy Reference Number: CP.MP.38

Clinical Policy: Ultrasound in Pregnancy Reference Number: CP.MP.38 Clinical Policy: Reference Number: CP.MP.38 Effective Date: 02/11 Last Review Date: 08/15 Revision Log Coding Implications See Important Reminder at the end of this policy for important regulatory and

More information

PREGNANCY INFORMATION PACK. Peace of mind throughout pregnancy

PREGNANCY INFORMATION PACK. Peace of mind throughout pregnancy PREGNANCY INFORMATION PACK Peace of mind throughout pregnancy Welcome Welcome to The 3fivetwo Group. We are delighted at the news of your recent pregnancy success and we wish you all the very best for

More information

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS CAGC Certification Logbook of Clinical Experience INSTRUCTIONS The purpose of the logbook is to show that the applicant has been significantly involved in the evaluation and counselling of patients seeking

More information

A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester

A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester Ultrasound Obstet Gynecol 2011; 37: 38 47 Published online 7 December 2010 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8845 A reassessment of biochemical marker distributions in

More information

NATIONAL DOWN SYNDROME SOCIETY

NATIONAL DOWN SYNDROME SOCIETY NATIONAL DOWN SYNDROME SOCIETY down syndrome Down syndrome affects people of all ages, races and economic levels. It is one of the most frequently occurring chromosomal abnormalities, occurring once in

More information

Risk Calculation Software Requirements for Down's Syndrome Screening

Risk Calculation Software Requirements for Down's Syndrome Screening Screening Programmes Fetal Anomaly Risk Calculation Software Requirements for Down's Syndrome Screening Version 1 January 2013 Created by: Dave Wright, Barry Nix, Steve Turner, David Worthington and Andy

More information