Premium
Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first‐ and early second‐trimester echocardiography
Author(s) -
Gembruch U.,
Baschat A. A.,
Knöpfle G.,
Hansmann M.
Publication year - 1997
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1997.10060391.x
Subject(s) - medicine , trisomy , hypoplasia , fetal echocardiography , cardiology , ventricle , fetus , double outlet right ventricle , down syndrome , prenatal diagnosis , anatomy , pregnancy , genetics , psychiatry , biology
Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology