The role of the second trimester genetic sonogram in screening for fetal Down syndrome

Seminars in Perinatology
B Benacerraf

Abstract

The Genetic Sonogram is an ultrasound examination done on second trimester fetuses that not only evaluates the fetus for structural malformations, but also searches for the sonographic markers of fetal Down syndrome. The main markers that comprise the genetic sonogram include the nuchal fold, short femur and humerus, pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and any major abnormality. The absence of any marker on a second trimester scan conveys a 60-80% reduction in prior risk of Down syndrome based on advanced maternal age or serum screen risk. The presence of sonographic markers, either singly or in combination, will raise the baseline risk of Down syndrome using likelihood ratios calculated for each individual marker. Using this approach, approximately 75% of fetuses with Down syndrome can be identified by modifying the patient's baseline risk according to the results of the ultrasound. The second trimester scan will likely continue to play an important role in the future in the detection of aneuploidy.

References

Sep 11, 1992·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·B R BenacerrafF D Frigoletto
Oct 1, 1992·Human Pathology·D J Roberts, D Genest
May 1, 1992·American Journal of Obstetrics and Gynecology·S RotmenschJ C Hobbins
Jul 1, 1992·Radiology·B R BenacerrafF D Frigoletto
Feb 11, 1991·Obstetrics and Gynecology·B R BenacerrafF D Frigoletto
Aug 1, 1989·American Journal of Obstetrics and Gynecology·M T PetersW A Miller
Oct 1, 1989·Obstetrics and Gynecology·R R PerrellaB F Crandall
Nov 1, 1989·American Journal of Obstetrics and Gynecology·J FitzSimmonsL A Mack
Sep 1, 1985·American Journal of Obstetrics and Gynecology·B R BenacerrafL A Laboda
Jan 1, 1987·American Journal of Obstetrics and Gynecology·A ToiR A Filly
Nov 1, 1987·American Journal of Obstetrics and Gynecology·B R Benacerraf, F D Frigoletto
Jul 1, 1988·American Journal of Obstetrics and Gynecology·B R BenacerrafF D Frigoletto
Oct 1, 1995·American Journal of Obstetrics and Gynecology·D A NybergM A Williams
Jun 1, 1995·British Journal of Obstetrics and Gynaecology·W SepulvedaN M Fisk
Feb 1, 1995·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A E DonnenfeldD Rightmire
Jan 1, 1995·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·I GoldsteinJ A Copel
Jun 1, 1994·Prenatal Diagnosis·R BiagiottiE Cariati
Oct 1, 1994·American Journal of Obstetrics and Gynecology·A Z AbuhamadA T Evans
Nov 1, 1994·American Journal of Obstetrics and Gynecology·D L Gray, J P Crane
Aug 1, 1994·Prenatal Diagnosis·P GillA Fantel
Jan 1, 1993·Obstetrics and Gynecology·L LettieriA Craffey
Oct 1, 1996·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·E WickstromE Pergament
Dec 1, 1996·American Journal of Obstetrics and Gynecology·R O Bahado-SinghM J Mahoney
May 1, 1997·Obstetrics and Gynecology·M D BorkJ F Rodis
Jun 1, 1997·Obstetrics and Gynecology·A M VintzileosC V Ananth
Dec 17, 1997·Prenatal Diagnosis·S RotmenschJ A Copel
Aug 11, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D A NybergM A Williams
Aug 11, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·T D ShippB R Benacerraf
Aug 11, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M A ZoppiG Monni
Oct 30, 1998·Obstetrics and Gynecology·L Guariglia, P Rosati
Mar 7, 2001·JAMA : the Journal of the American Medical Association·R Smith-BindmanJ D Goldberg
Jun 8, 2002·Obstetrics and Gynecology·Anthony M VintzileosRobert A Knuppel
Nov 20, 2002·American Journal of Obstetrics and Gynecology·Anthony M VintzileosRobert A Knuppel
Dec 7, 2002·Obstetrics and Gynecology·Peter A BennJames F X Egan
Jan 16, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S CiceroK H Nicolaides
May 10, 2003·Obstetrics and Gynecology·Anthony VintzileosLami Yeo

❮ Previous
Next ❯

Citations

Jul 21, 2011·Archives of Gynecology and Obstetrics·Themistoklis I DagklisNikos M Prapas
Jun 12, 2009·The New England Journal of Medicine·Deborah A Driscoll, Susan Gross
Feb 29, 2008·Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence·A Ypsilanti, G Grouios
Feb 22, 2012·Clinical Obstetrics and Gynecology·Angela F Hawk, Devereux N Saller
Nov 11, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Andreas MarneridesNikos Papadogiannakis
Apr 17, 2014·Pediatric Radiology·Rupa Radhakrishnan, Alexander J Towbin
Nov 29, 2011·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Yavuz Emre SükürAcar Koç
Jun 13, 2015·European Journal of Obstetrics, Gynecology, and Reproductive Biology·A TournemireC Vayssière
Jul 20, 2010·Clinics in Laboratory Medicine·Diane Timms, Winston A Campbell
Jun 29, 2011·Prenatal Diagnosis·Filiz Fatma YanikBurcu Kisa Karakaya
Feb 26, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A GeipelC Berg
Jan 14, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D GraceT Ozcan
Dec 17, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·W LeeR Romero
Oct 16, 2009·Journal of Clinical Ultrasound : JCU·Etan Z ZimmerMoshe Bronshtein
May 24, 2006·Gynécologie, obstétrique & fertilité·J-M Jouannic, J-L Benifla
Sep 1, 2015·Journal de gynécologie, obstétrique et biologie de la reproduction·C SciardM Massoud
Apr 27, 2010·American Journal of Obstetrics and Gynecology·Alexandra BenachiFrançoise Muller
Jun 27, 2013·Orvosi hetilap·Andrea SzabóSándor Valent
Nov 28, 2013·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Stephanie DukhovnyRosemary Reiss
Feb 14, 2019·Journal of Perinatal Medicine·Ambra IuculanoGiovanni Monni
Nov 26, 2010·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Roberto Romero

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Aneurysm

Aneurysms are outward distensions or bulges that occurs in a weakened wall of blood vessels. Discover the latest research on aneurysms here.

Related Papers

JAMA : the Journal of the American Medical Association
M M AdamsG P Oakley
The New England Journal of Medicine
Fergal D MaloneFirst- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
B ThilaganathanN C Wathen
© 2021 Meta ULC. All rights reserved