title: Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study.
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.
authors.affiliation: Department of Obstetrics and Gynaecology, Erasmus University Rotterdam, The Netherlands.
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
authors.forename: P A
authors.initials: PA
authors.lastname: Stewart
authors.forename: A
authors.initials: A
authors.lastname: Reuss
authors.forename: E S
authors.initials: ES
authors.lastname: Sachs
mesh_terms: D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D006831:Polyhydramnios / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy; D014463:Ultrasonography