Down s Syndrome: Ultrasound Screening

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "Down s Syndrome: Ultrasound Screening"

Transcription

1 October 2001 Down s Syndrome: Ultrasound Screening Hilary Hochberg Advanced Radiology Clerkship Dr. Gillian Lieberman

2 Patient M.C. 32 year old female presents at 16 weeks gestational age with abnormal triple screen test Obstetrician referred M.C. for ultrasound evaluation to look for signs of Down s syndrome or other congenital anomalies. 2

3 Screening for Down syndrome by maternal serum markers: THE TRIPLE SCREEN AFP HcG UE3 Absolute 58 ng/ml ju/ml 28 ng/ml Relative 1.93 MoM 3.12 MoM 0.42 MoM Pt M.C. Trisomy 21 3

4 Maternal age-related risk for chromosomal abnormalities 4

5 Prevalence of trisomy 21 by maternal age and gestational age Snijders RJM, Sundberg K, Holzgreve W, Henry G, Nicolaides KH. Maternal age and gestation- specific risk for trisomy 21. Ultrasound Obstet Gynecol 1999;13:

6 Ultrasound Screening of Down s Syndrome Image: /cbl/embryo/sysnote.htm Trisomy 21: Most common chromosomal abnormality Average incidence 1:800 live births Current second-trimester ultrasound screening detects up to 60% of Down s syndrome fetuses * Helpful to correlate a large number of relatively nonspecific visual and biometric markers *Chitty LS: Antenatal screening for aneuploidy. Curr Opin Obstet Gynecol 10:91,1998. Ideally, perform at age when confirmatory diagnosis can be made, safe termination can be offered 6

7 Sonographic finding Trisomy 21 Trisomy 18 Trisomy 13 Triploidy Turner Skull/brain Strawberry-shaped head Brachycephaly Microcephaly Ventriculomegaly Holoprosencephaly Choroid plexus cysts Absent corpus callosum Posterior fossa cyst Enlarged cisterna magna Face/neck Facial cleft Micrognathia Nuchal edema Cystic hygromata Chest Diaphragmatic hernia Cardiac abnormality Abdomen Exomphalos Duodenal atresia Collapsed stomach Mild hydronephrosis Other renal abnormalities Other Hydrops Small for gestational age Relatively short femur Clinodactyly Overlapping fingers Polydactyly Syndactyly Talipes Pilu G, Nicolaides KH. Diagnosis of fetal abnormalities. The week scan. The Parthenon Publishing Group: New York,

8 NUCHAL TRANSLUCENCY: 1 st Trimester Most clinically useful marker for trisomy 21 Unclear physiological basis of fluid accumulation 1. Increased risk of associated cardiac abnormalities 2. Increased hyaluronanidase in ECM Nuchal translucency > 3mm abnormal 8

9 * * In one large series of 1015 patients, nuchal translucency thickness of 3mm, 4mm, 5mm, and > 6mm increased risk of trisomy 3x, 18x, 28x and 36x higher than respective risk expected based upon maternal age alone. Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 1995 Jan;5(1):

10 Nuchal Fold: 2 nd Trimester Thickened nuchal skin fold Outer skull table to outer skin surface >6 mm abnormal at weeks (83% specificity)* 40% Down s fetuses have thickened fold * * Benacerraf BR, Gelman R, Frigoletto FD: Sonographic identification of second-trimester fetuses with Down s syndrome. NEJM 317:1371,

11 Choroid Plexus Cysts Present in 2% of normal pregnancies Folding of neuroepithelium accumulate CSF Most resolve by weeks Must be imaged in 2 orthogonal planes and > 3 mm. 11

12 Echogenic Bowel 0.5% normal fetuses Usually no significance Cause unknown Hypoperistalsis Meconium fluid content Gut ischemia For isolated bowel changes, risk for trisomy 21 7x Also found in cases of: fetal viral infection, ex: CMV small bowel atresia/volvulus growth retardation cystic fibrosis 12

13 Duodenal Atresia Double-bubble sign 1/10,000 births 5-8% Down s Syndrome fetuses 30% of fetuses with duodenal atresia have Down s Syndrome 13

14 Echogenic Intracardiac Focus Image 1 Image 2 Single foci quadruples risk of Down s syndrome 3-8 % normal 2nd trimester ultrasounds Most commonly single foci in LV, can be multiple and bilateral 14

15 Image1: Image2: Winter, Thomas C, MD et al. Echogenic Intracardiac Focus in 2 nd -Trimester Fetuses with Trisomy 21: Usefulness as a US Marker. Radiology 2000; 216; Simpson J. Cardiac echogenic focus Prenat Diagn 19:

16 Atrioventricular Septal Defect AKA endocardial cushion defect; 7% CHD; 1/3000 births Endocardial cushions form the lower atrial septum, the upper ventricular septum, the septal leaflet of the tricuspid valve and the anterior leaflet of the mitral valve. An ECD defect is due to abnormal development of these endocardial cushions. ASDVSD a common opening to all chambers of heart >50% of DS fetuses have CHD (44% have AVSD) 43% of fetuses with AVSD have DS* *Paladini D, Tartaglione A, Agangi A, Teodoro A, Forleo F, Borghese A, Martinelli P. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol 2000 Feb;15(2):

17 AVSD

18 Other sonographic features Short femur Sandal gap Snijders RJM, Platt LD, Greene N, Carlson D, Krakow D, Gregory K, Bradley K. Femur length and trisomy 21: impact of gestational age on screening efficiency. Ultrasound Obstet Gynecol 2000; 16: Images: Mild renal pelvic dilatation (>4 mm at <33 wks abnormal) 18

19 Dilated Pelvis Normal Pelvis 19

20 Ultrasound screening for Down s syndrome Useful information Confusion Many trisomy 21 findings overlap with normal fetus findings 20

21 Sonographic Index for DS: 2 nd trimester fetus Findings Major anomaly Nuchal Fold >6mm Short Femur Short Humerus Pyelectasis >4mm Hyperechoic Bowel Echogenic Focus Score Score > 2 82% DS (4% false positive) Callen, PW. Ultrasononography in Obstetrics and Gynecology. 4th edn. WB Saunders CO. Philadelphia

22 Patient M.C. Ultrasound: normal. Obstetrician offered amniocentesis because calculated risk of fetus with trisomy 21 > risk of amnio complications. Patient expressed that she would not abort fetus regardless of amnio results; however, she and her husband wanted psychological preparation and requested karyotype analysis. 22

23 References Bradley K. Femur length and trisomy 21: impact of gestational age on screening efficiency. Ultrasound Obstet Gynecol 2000; 16: Callen, PW. Ultrasononography in Obstetrics and Gynecology. 4th edn. WB Saunders CO. Philadelphia Devore, GR. Trisomy 21: 91% detection rate using second-trimester ultrasound markers. Ultrasound Obstet Gynecol 2000; 16: Filly RA. Obstetrical sonography: the best way to terrify a pregnant woman. J Ultrasound Med 2000; 19: 1-5. Graupe M, Naylor C, Greene N, Carlson D, Platt L. Trisomy 21: Second-Trimester Ultrasound. Clinics in Perinatology 28 (2): Paladini D, Tartaglione A, Agangi A, Teodoro A, Forleo F, Borghese A, Martinelli P. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol 2000 Feb;15(2):104-8 Pilu G, Nicolaides KH. Diagnosis of fetal abnormalities. The week scan. The Parthenon Publishing Group: New York, Simpson J. Cardiac echogenic focus Prenat Diagn 19: Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: A meta-analysis. JAMA 285 (8): Snijders RJM, Platt LD, Greene N, Carlson D, Krakow D, Gregory K, Sepkulveda W, Sebire NJ. Fetal echogenic bowel: a complex scenario. Ultrasound Obstet Gynecol 2000; 16: Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 1995 Jan;5(1):15-9. Twining P, McHugo J, Pilling D. Textbook of Fetal Abnormalities. Churchill Livingstone: 23 London, 1999.

24 Acknowledgments Dr. Gillian Lieberman Pamela Lepkowski Larry Barbaras & Cara Lyn D amour 24

Ultrasound Screening for Down Syndrome

Ultrasound Screening for Down Syndrome September 2003 Ultrasound Screening for Down Syndrome Joshua U. Klein Harvard Medical School Year III Patient EH 35 y/o G0P0 IVF treatment; now pregnant with di/di twins, GA by LMP = 13 weeks, 0 days Presents

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

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

Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy

Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy David A. Nyberg, MD, Vivienne L. Souter, MD, Amira El-Bastawissi, MBCB, PhD, Scott Young, MD, Fred

More information

2 nd trimester Ultrasound markers and Down s Syndrome. Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK

2 nd trimester Ultrasound markers and Down s Syndrome. Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK 2 nd trimester Ultrasound markers and Down s Syndrome Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK John Langdon Down 1828 1896 1 st to describe features of Down s syndrome Some examples

More information

Sonographic Markers of Fetal Trisomies

Sonographic Markers of Fetal Trisomies Review Article Sonographic Markers of Fetal Trisomies Second Trimester David A. Nyberg, MD, Vivienne L. Souter, MD, MRCOG Objective. Second-trimester sonographic findings of fetal trisomy may include structural

More information

SOFT FETAL ULTRASOUND FINDINGS

SOFT FETAL ULTRASOUND FINDINGS SOFT FETAL ULTRASOUND FINDINGS Compiled by the Genetics Team at The Credit Valley Hospital Last updated February 2008 Page 2 This document refers to the ultrasound finding of a soft sign, as compared

More information

Small for gestational age

Small for gestational age Chapter 13 Small for gestational age SMALL FOR GESTATIONAL AGE Small for gestational age fetuses are defined by the finding that the abdominal circumference is below the 5th centile for gestation. About

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

Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21

Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21 Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21 Jane Serene, MS3 Core Radiology Clerkship Beth Israel Deaconess Medical Center Nuchal translucency-based screening for fetal abnormalities

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

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

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

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

Screening for Down syndrome

Screening for Down syndrome J Obstet Gynecol India Vol. 56, No. 3 : May/June 2006 Pg 205-211 REVIEW ARTICLE The Journal of Obstetrics and Gynecology of India Screening for Down syndrome Asma Khalil, Pranav Pandya University College

More information

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean?

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean? Prenatal Testing Nuchal Translucency and What Does is Mean? William J. Polzin, M.D. Co-Director, Fetal Care Center of Cincinnati Director, Division of Maternal-Fetal Medicine Good Samaritan Hospital Cincinnati,

More information

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers Aneuploidy Screening Program for Saskatchewan Information for Health Care Providers Acknowledgements Special recognition goes to the following physicians who helped develop this information booklet: Dr.

More information

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS Women face many choices in their pregnancy and want to make decisions that are best for themselves, their baby and their family. The decision to proceed with

More information

FIRST-TRIMESTER DOWN S SYNDROME SCREENING

FIRST-TRIMESTER DOWN S SYNDROME SCREENING FIRST-TRIMESTER DOWN S SYNDROME SCREENING BY FETAL NUCHAL TRANSLUCENCY MEASUREMENT IN TAIWAN Hei-Jen Jou, 1,2 Jin-Chung Shih, 2 Shiao-Chi Wu, 3 Te-Cheng Li, 1 Chau-Yang Tzeng, 1 and Fon-Jou Hsieh 2 Background:

More information

First-Trimester Sonographic Diagnosis of Holoprosencephaly

First-Trimester Sonographic Diagnosis of Holoprosencephaly Article First-Trimester Sonographic Diagnosis of Holoprosencephaly Value of the Butterfly Sign Waldo Sepulveda, MD, Victor Dezerega, MD, Cecilia Be, MSc Objective. To study the value of choroid plexus

More information

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Jacob Canick, PhD Alpert Medical School of Brown University Women & Infants Hospital Providence, RI, USA 2 nd IFCC-Ortho Clinical Diagnostics

More information

MEDICAL POLICY FIRST-TRIMESTER PRENATAL SCREENING FOR GENETIC DEFECTS MP POLICY TITLE POLICY NUMBER

MEDICAL POLICY FIRST-TRIMESTER PRENATAL SCREENING FOR GENETIC DEFECTS MP POLICY TITLE POLICY NUMBER Original Issue Date (Created): February 23, 2004 Most Recent Review Date (Revised): Effective Date: May 15, 2007 January 31, 2008- RETIRED I. DESCRIPTION/BACKGROUND Over the years many types of biologic

More information

New Genetic Testing in Pregnancy

New Genetic Testing in Pregnancy Oklahoma Academy of Family Physicians New Genetic Testing in Pregnancy J. Stephen Jones. MD Maternal Fetal Medicine Saint Francis Tulsa Oklahoma 16 June, 2016 1 Prenatal Testing for Fetal Aneuploidy Noninvasive

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

Increased NT with normal karyotype: Is termination justified?

Increased NT with normal karyotype: Is termination justified? Increased NT with normal karyotype: Is termination justified? Dr JBF Cilliers Maternal Fetal Medicine Dept Obstetrics & Gynaecology University of the Free State Introduction Measuring NT during the first

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

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

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

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

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

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

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

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

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

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D. in Obstetrics: Current Modalities & Future Potential Outline What is 3D US? What are obvious advantages of 3D US? What is the future of 3D US? Alfred Abuhamad, M.D. Eastern Virginia Medical School 2D US

More information

Greenbrier Obstetrics and Gynecology, P.C.

Greenbrier Obstetrics and Gynecology, P.C. Carrier Screening in Pregnancy for Common Genetic Diseases Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X are a few common serious disorders that can occur even without a family history. These

More information

Coarctation of the Aorta

Coarctation of the Aorta Coarctation of the Aorta A GUIDE TO HELP UNDERSTAND YOUR BABY S HEART PROVIDED BY THE Center for Advanced Fetal Care the Fetal Heart Program Medical Center Table of Contents This guide will help you understand

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

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

IN THIS ISSUE. Sponsored by Perinatal Quality Foundation

IN THIS ISSUE. Sponsored by Perinatal Quality Foundation Sponsored by Perinatal Quality Foundation The ExaminerFall 2014 The overall frequency of the common aneuploidies (Trisomy 21, 18, 13) screened for by NIPT is approximately two per thousand pregnancies

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

ABSTRACT Background Screening for trisomy 21 (Down s syndrome) by measuring maternal serum alphafetoprotein,

ABSTRACT Background Screening for trisomy 21 (Down s syndrome) by measuring maternal serum alphafetoprotein, INCREASED NUCHAL TRANSLUCENCY AS A MARKER FOR FETAL CHROMOSOMAL DEFECTS PEKKA TAIPALE, M.D., VILHO HIILESMAA, M.D., PH.D., RIITTA SALONEN, M.D., PH.D., AND PEKKA YLÖSTALO, M.D., PH.D. ABSTRACT Background

More information

Esophagus Stomach Duodenum Small intestine Large bowel

Esophagus Stomach Duodenum Small intestine Large bowel Ugochi Akoma, MD Fellow, Maternal Fetal Medicine Esophagus Stomach Duodenum Small intestine Large bowel Esophagus and trachea originate from the median ventral diverticulum of the forgut, separated p by

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

Non-Invasive Prenatal Testing Information for medical practitioners

Non-Invasive Prenatal Testing Information for medical practitioners Non-Invasive Prenatal Testing Information for medical practitioners Harmony Prenatal Test evaluates the risk for trisomies 21, 18 and 13 in women of any age or risk category Since non-invasive prenatal

More information

Genetic Counseling for Fetal Anomalies. Carin Lea Yates, MS, CGC Genetic Counselor Henry Ford Hospital 18 March 2015

Genetic Counseling for Fetal Anomalies. Carin Lea Yates, MS, CGC Genetic Counselor Henry Ford Hospital 18 March 2015 Genetic Counseling for Fetal Anomalies Carin Lea Yates, MS, CGC Genetic Counselor Henry Ford Hospital 18 March 2015 Objectives Explain basic genetic concepts. Describe the role of the genetic counselor

More information

The Management of Monochorionic-Diamniotic Twins

The Management of Monochorionic-Diamniotic Twins The Management of Monochorionic-Diamniotic Twins Part 2: Prenatal diagnosis and antenatal management Carla Ransom, MD Vanderbilt University November 30, 2012 none Disclosures PRENATAL DIAGNOSIS & ANEUPLOIDY

More information

Testing for Chromosome Abnormalities

Testing for Chromosome Abnormalities Testing for Chromosome Abnormalities Congratulations on your pregnancy! While most babies are born healthy, approximately 3-5% will be affected with certain birth defects or genetic conditions. In all

More information

Prenatal Testing and Genetic Counseling

Prenatal Testing and Genetic Counseling (503) 652-8076 www.vivantemidwifery.com Prenatal Testing and Genetic Counseling Every parent hopes to have a healthy child. The good news is that most babies are born healthy. However, there are occasions

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

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features Article Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features Lami Yeo, MD, Edwin R. Guzman, MD, Debra Day-Salvatore MD, PhD, Christine Walters, RDMS, Donna Chavez, MS, Anthony M.

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

PRACTICE BULLETIN ACOG

PRACTICE BULLETIN ACOG ACOG PRACTICE BULLETIN CLINICAL MANAGEMENT GUIDELINES FOR OBSTETRICIAN GYNECOLOGISTS NUMBER 77, JANUARY 2007 Replaces Practice Bulletin Number 27, May 2001, and Committee Opinion Number 296, July 2004

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

High-resolution sonography has enabled us to

High-resolution sonography has enabled us to Original Article 12 Preliminary Normal Reference Values of Nuchal Translucency Thickness in Taiwanese Fetuses at 11-14 Weeks of Gestation Jenn-Jeih Hsu, MD; Ching-Chang Hsieh, MD; Chi-Hsin Chiang, MD;

More information

NUCHAL TRANSLUCENCY GENETIC SCREENING

NUCHAL TRANSLUCENCY GENETIC SCREENING NUCHAL TRANSLUCENCY GENETIC SCREENING Background 1. Definition: o Fetal nuchal edema, posterior area, synonymous with nuchal translucency or NT o Nuchal fold thickness best ultrasonographic predictor of

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 WOMEN AND THEIR FAMILIES

FOR WOMEN AND THEIR FAMILIES FOR WOMEN AND THEIR FAMILIES A guide to understanding prenatal screening tests for: Down Syndrome Trisomy 18 Open Neural Tube Defects New prenatal screening tests are now available for all women. Early

More information

Distribution of nuchal translucency in antenatal screening for Down s syndrome. JPBestwick,WJHuttlyandNJWald... METHODS

Distribution of nuchal translucency in antenatal screening for Down s syndrome. JPBestwick,WJHuttlyandNJWald... METHODS 8 ORIGINAL ARTICLE Distribution of nuchal translucency in antenatal screening for JPBestwick,WJHuttlyandNJWald... J Med Screen 2010;17:8 12 DOI: 10.1258/jms.2010.009107 See end of article for authors affiliations...

More information

Fetal Biometry. Updated 10/29/2008. Jimmie Wong, MD Assistant Professor of Radiology David Geffen School of Medicine at UCLA

Fetal Biometry. Updated 10/29/2008. Jimmie Wong, MD Assistant Professor of Radiology David Geffen School of Medicine at UCLA Updated 10/29/2008 Jimmie Wong, MD Assistant Professor of Radiology David Geffen School of Medicine at UCLA -Terminology -Gestational age (GA) -Refers to the length of pregnancy counting from the LMP and

More information

Editorial. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. R. CHAOUI *and K. H.

Editorial. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. R. CHAOUI *and K. H. Ultrasound Obstet Gynecol 2010; 35: 133 138 Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.7552 Editorial From nuchal translucency to intracranial translucency: towards

More information

Trisomies 21, 18, and 13 are the most frequently

Trisomies 21, 18, and 13 are the most frequently No. 277, May 2012 Counselling Considerations for Prenatal Genetic Screening This committee opinion has been prepared by the Genetics Committee and approved by the Executive of the Society of Obstetricians

More information

Health Technology Assessment Report 5

Health Technology Assessment Report 5 F Health Technology Assessment Report 5 Routine ultrasound scanning before 24 weeks of pregnancy Consultation Assessment Report: 26 August 2003 Authors: Ritchie K, Boynton J, Bradbury I, Foster L, Iqbal

More information

Kevin Spencer a, *, Kypros H. Nicolaides b. BJOG: an International Journal of Obstetrics and Gynaecology March 2003, Vol. 110, pp.

Kevin Spencer a, *, Kypros H. Nicolaides b. BJOG: an International Journal of Obstetrics and Gynaecology March 2003, Vol. 110, pp. BJOG: an International Journal of Obstetrics and Gynaecology March 2003, Vol. 110, pp. 276 280 Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop

More information

The First Trimester Screening program

The First Trimester Screening program The First Trimester Screening program The Fetal Medicine Foundation This guide has been designed to highlight the important clinical aspects of using the First Trimester Screening program. It is not intended

More information

Prenatal screening and testing

Prenatal screening and testing Prenatal screening and testing Pregnancy is often a joyful time and most births result in healthy babies; however, 3 to 5 percent of all babies born have a birth defect or genetic condition. Many of these

More information

Genetic Screening and Testing During Pregnancy

Genetic Screening and Testing During Pregnancy Genetic Screening and Testing During Pregnancy While most babies are born healthy and without birth defects, approximately 3-5% of all babies are born with a birth defect. Some of these babies will have

More information

Fetal Nuchal Translucency Measurements: Performance of Midwives and Doctors Compared

Fetal Nuchal Translucency Measurements: Performance of Midwives and Doctors Compared Fetal Nuchal Translucency Measurements Fetal Nuchal Translucency Measurements: Performance of Midwives and Doctors Compared Betty YT LAU MBChB, MRCOG, FHKAM (O&G) Chung-Fan POON BSN, MSc, RM, RN, RDMS

More information

Abnormal cardiac finding in prenatal sonographic examination: an important indication for fetal echocardiography?

Abnormal cardiac finding in prenatal sonographic examination: an important indication for fetal echocardiography? Abnormal cardiac finding in prenatal sonographic examination: an important indication for fetal echocardiography? Rima Bader MD,PhD, FASE, FACC, FRCPCH Prof of Pediatric and Perinatal Cardiology King Abdul

More information

ABSTRACT KEY WORDS INTRODUCTION KATHMANDU UNIVERSITY MEDICAL JOURNAL

ABSTRACT KEY WORDS INTRODUCTION KATHMANDU UNIVERSITY MEDICAL JOURNAL Nuchal Translucency in Normal Fetus and Its Variation With Increasing Crown Rump Length (Crl) and Gestational Age Karki S, 1 Joshi KS, 1 Tamrakar SR, 2 Regmi S, 1 Khanal K 3 1 Department of Radiodiagnosis

More information

A simple, safe blood test that offers highly sensitive results

A simple, safe blood test that offers highly sensitive results A simple, safe blood test that offers highly sensitive results A non-invasive test that assesses the risk for chromosome conditions such as Down syndrome and includes an optional analysis of fetal sex

More information

PRACTICAL APPROACHES TO GENETIC ISSUES IN OBSTETRICS AND GYNECOLOGY

PRACTICAL APPROACHES TO GENETIC ISSUES IN OBSTETRICS AND GYNECOLOGY PRACTICAL APPROACHES TO GENETIC ISSUES IN OBSTETRICS AND GYNECOLOGY Marlene Huggins, MSc Genetic Counsellor Regional Prenatal Diagnosis Service Hamilton Health Sciences hugginsm@hhsc.ca November 2001 LEARNING

More information

Fetal echocardiography at 11 13 weeks by transabdominal high-frequency ultrasound

Fetal echocardiography at 11 13 weeks by transabdominal high-frequency ultrasound Ultrasound Obstet Gynecol 2011; 37: 296 301 Published online 10 February 2011 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8934 Fetal echocardiography at 11 13 weeks by transabdominal

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

Prenatal Diagnosis Program

Prenatal Diagnosis Program Prenatal Diagnosis Program Prenatal Screenings and Diagnosis What is prenatal diagnosis? Prenatal diagnosis refers to the use of one or more tests to determine if a developing baby has a problem before

More information

Issues in Emerging Health Technologies

Issues in Emerging Health Technologies Issues in Emerging Health Technologies Nuchal Translucency Measurement in First Trimester Down Syndrome Screening Issue 100 June 2007 Summary Approximately three in every four fetuses with Down syndrome

More information

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities American Journal of Obstetrics and Gynecology (2004) 191, 45e67 www.elsevier.com/locate/ajog REVIEW ARTICLE Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities

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

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

Increased nuchal translucency in fetuses with a normal karyotype

Increased nuchal translucency in fetuses with a normal karyotype PRENATAL DIAGNOSIS Prenat Diagn 2002; 22: 864 868. Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/pd.413 INVITED COMMENTARY: CURRENT ISSUES IN OBSTETRICS AND GENETICS

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

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

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

Prenatal diagnosis of rare diseases. Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary

Prenatal diagnosis of rare diseases. Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary Prenatal diagnosis of rare diseases Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary FETAL ANOMALIES, SB, MISCARRIAGES RARE DISEASES 20% of the postnatal exomes in the DDD had an abnormal

More information

Chapter 2 Selected Genetics Topics

Chapter 2 Selected Genetics Topics Chapter 2 Selected Genetics Topics Robertsonian Translocation and Other Travel Options for Your Genes: How Your Genes Can do a Little Sightseeing on the Genome Some chromosome problems have to do with

More information

Disappearance of enlarged nuchal translucency before 14 weeks gestation: relationship with chromosomal abnormalities and pregnancy outcome

Disappearance of enlarged nuchal translucency before 14 weeks gestation: relationship with chromosomal abnormalities and pregnancy outcome Ultrasound Obstet Gynecol 2004; 24: 169 174 Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.1103 Disappearance of enlarged nuchal translucency before 14 weeks gestation:

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

Charts of fetal size: limb bones

Charts of fetal size: limb bones BJOG: an International Journal of Obstetrics and Gynaecology August 2002, Vol. 109, pp. 919 929 Charts of fetal size: limb bones Lyn S. Chitty a, *, Douglas G. Altman b Objective To construct new size

More information

Welcome to the 2F Prenatal Diagnosis Clinic (PND)

Welcome to the 2F Prenatal Diagnosis Clinic (PND) Welcome to the 2F Prenatal Diagnosis Clinic (PND) At your appointment today, you will first meet a Genetic Counsellor, who will review your family and medical history with you. She will also discuss the

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

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

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

Screening for Trisomy 18 by Fetal Nuchal Translucency and Maternal Serum Free β-hcg and PAPP-A at Weeks of Gestation

Screening for Trisomy 18 by Fetal Nuchal Translucency and Maternal Serum Free β-hcg and PAPP-A at Weeks of Gestation PRENATAL DIAGNOSIS Prenat. Diagn. 19: 1035 1042 (1999) Screening for Trisomy 18 by Fetal Nuchal Translucency and Maternal Serum Free β-hcg and PAPP-A at 10 14 Weeks of Gestation Natasha Tul 1, Kevin Spencer

More information

CONGENITAL heart disease is

CONGENITAL heart disease is 601 This is the second in a series of technical bulletins to be published by the American Institute of Ultrasound in Medicine (). The is a multidisciplinary organization dedicated to promoting the safe

More information

When a scan shows a nuchal translucency (NT) measurement of 3.5 millimetres or more

When a scan shows a nuchal translucency (NT) measurement of 3.5 millimetres or more Screening Programmes Fetal Anomaly When a scan shows a nuchal translucency (NT) measurement of 3.5 millimetres or more Information for parents Aim We have given you this leaflet because your baby s nuchal

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

Editorial. Genetic sonography: the historical and clinical role of fetal echocardiography G. R. DEVORE INTRODUCTION

Editorial. Genetic sonography: the historical and clinical role of fetal echocardiography G. R. DEVORE INTRODUCTION Ultrasound Obstet Gynecol 2010; 35: 509 521 Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.7652 Editorial Genetic sonography: the historical and clinical role of

More information

GENETIC COUNSELING AND PRENATAL TESTING

GENETIC COUNSELING AND PRENATAL TESTING GENETIC COUNSELING AND PRENATAL TESTING Every parent hopes to have a healthy child. The good news is most babies are born healthy. However, sometimes a genetic disease or birth defect may occur. If your

More information

Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being

Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being Case Series Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being Geoffrey Wong, MD, Deborah Levine, MD Objective. This series reports 3 cases with conflicting antenatal

More information

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological

More information