Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
R SnijdersK H Nicolaides

Abstract

In an ultrasound screening study involving 15,726 viable, singleton pregnancies at 11-14 weeks of gestation, exomphalos was diagnosed in 0.11% of the cases and, in those with exomphalos, the frequency of trisomy 18, trisomy 13 or triploidy was 61%. The corresponding frequencies of exomphalos of fetuses with these chromosomal defects were 22.5%, 9.1% and 12.5%, respectively. The median maternal age of the screened population was 33 (range 15-48) years, which is higher than in all pregnancies in England and Wales. Expected prevalences of trisomy 18, trisomy 13 and triploidy in the total population were derived on the basis of the age distribution of all deliveries in England and Wales and maternal and gestational age-specific risks for these chromosomal defects. From these numbers and the observed frequencies of exomphalos in association with the various chromosomal defects, it was estimated that the prevalence of exomphalos in a population with the maternal age distribution of all deliveries in England and Wales was 7.4 per 10,000 at 12 weeks of gestation, and this decreased to 3.5 at 20 weeks and 2.9 in live births. The estimated frequency of chromosomal defects in fetuses with exomphalos decreased from 39.4% at 12 weeks of ges...Continue Reading

Citations

Mar 24, 1998·Prenatal Diagnosis·L S Chitty, P P Pandya
Aug 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A P SoukaK H Nicolaides
Jul 13, 2001·Journal of Perinatal Medicine·C Sen
Feb 9, 2008·Medicinski pregled·Aleksandra Novakov-Mikić
May 1, 2002·Prenatal Diagnosis·Kypros H NicolaidesSimona Cicero
Aug 4, 2007·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Gauderique TournePierre Seffert
May 23, 2015·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Genevieve FairbrotherKen Song
Oct 3, 2009·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Mar 29, 2007·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Jan 5, 2010·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Jul 20, 2010·Clinics in Laboratory Medicine·J Sonek, K Nicolaides
Jul 20, 2010·Clinics in Laboratory Medicine·Laura Goetzl
Jan 6, 2006·Obstetrics and Gynecology·Karl Oliver KaganKypros H Nicolaides
Apr 4, 2006·Obstetrics and Gynecology·Peter O'LearyRosanne Stock
Sep 27, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A BrantbergS H Eik-Nes
Dec 23, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G RembouskosK H Nicolaides
Feb 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jiri Sonek
Jul 18, 2008·Prenatal Diagnosis·Stephanie MannR Douglas Wilson
Jul 28, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A KhalilP Pandya
Jun 22, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K O KaganK H Nicolaides
Jan 31, 2002·Clinics in Perinatology·D A Nyberg, V L Souter
Aug 6, 2003·Radiologic Clinics of North America·Ilse Castro-Aragon, Deborah Levine
May 21, 2003·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Art DanielBrian J Trudinger
Apr 23, 2005·American Journal of Obstetrics and Gynecology·Athena P SoukaKypros H Nicolaides
Feb 7, 2006·American Journal of Obstetrics and Gynecology·Aris T PapageorghiouKypros H Nicolaides
Aug 6, 2004·American Journal of Obstetrics and Gynecology·Kypros H Nicolaides
Feb 13, 1999·American Journal of Obstetrics and Gynecology·A AessoposM Karagiorga
Dec 17, 1997·Prenatal Diagnosis·S RotmenschJ A Copel
Sep 14, 1999·American Journal of Medical Genetics·R J SnijdersK H Nicolaides
Apr 1, 2000·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·C V IsaksenS Skarsvåg

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