PMID: 2671976Jul 1, 1989Paper

Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study

Prenatal Diagnosis
J W WladimiroffE S Sachs

Abstract

The purpose of the present study was to establish sonographic markers for prenatal diagnosis of trisomies 13 and 18. Retrospective analysis of sonographic morphology was therefore carried out in seven fetuses with trisomy 13, and 16 fetuses with trisomy 18. Gestational age ranged between 17 and 39 weeks (median 28 weeks). Polyhydramnios and symmetrical growth retardation were present in 14 of 23 fetuses. A cardiac anomaly was diagnosed in all 23 fetuses, the majority representing a ventricular septal defect (n = 8) or double outlet right ventricle (n = 8). Extra-cardiac anomalies were characterized by a high incidence of limb deformities (polydactyly, clenched hands, club feet; n = 15) and omphalocele (n = 7). We conclude that the combined appearance of cardiac and extra-cardiac anomalies should prompt fetal karyotyping. Cardiac anomalies in combination with fetal limb deformities and omphalocele are suspicious for trisomies 13 and 18.

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Citations

May 20, 1999·Journal of the American College of Cardiology·A J TometzkiN H Silverman
Nov 14, 2002·The Journal of Obstetrics and Gynaecology Research·Theera TongsongPharuhas Chanprapaph
Mar 1, 1991·Archives of Disease in Childhood·G K SharlandL D Allan
Apr 6, 2004·Obstetrics and Gynecology Clinics of North America·Theresa L Stewart
Apr 22, 2011·American Journal of Obstetrics and Gynecology·Michelle SilasiIsaac E Stillman
May 19, 2017·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·Sarah K Dotters-KatzAaron B Caughey
Jun 21, 2017·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·Sarah K Dotters-KatzJay Schulkin
Aug 1, 1991·Prenatal Diagnosis·M M van Zalen-SprockH P van Geijn
Mar 14, 2007·Journal of Clinical Ultrasound : JCU·Theera TongsongSurapan Khunamornpong
May 21, 2003·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Art DanielBrian J Trudinger

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