Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies

American Journal of Medical Genetics
J W WladimiroffM F Niermeijer


A fetal cardiac defect was found prenatally by ultrasound in 13 of 230 women (5.6%) with a suspected fetal anomaly. Pregnancy duration varied between 17 and 39 weeks (mean 28 weeks). The reasons for referral of the 13 patients were: suspected fetal structural defect (n = 4), oligo- or polyhydramnios (n = 2), severe fetal growth retardation (n = 1), fetal cardiac arrhythmia (n = 1), or a combination thereof (n = 5). Abnormal chromosomes were found in 5 out of 13 fetuses (38%)-ie, four through prenatal and one through postnatal analysis. The present study demonstrates that fetal cardiac structural anomalies often are diagnosed in combination with ultrasonically established associated abnormality. Cytogenetic analysis of amniotic cells greatly improves diagnosis and obstetric management, especially when the cardiac defect per se is considered amenable to surgical treatment and other major structural defects have been ruled out.


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Jun 1, 1986·European Journal of Obstetrics, Gynecology, and Reproductive Biology·J W WladimiroffA Reuss
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Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sophie HinreinerUte Hehr
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Dec 3, 2013·Prenatal Diagnosis·Asma KhalilBasky Thilaganathan
Sep 1, 1987·Asia-Oceania Journal of Obstetrics and Gynaecology·K HaraH Nakano

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