Analysis of ultrasonic scans and karyotype of fetuses with holoprosencephaly diagnosed in The Department of Obstetrics & Gynecology of the Postgraduate Center of Medical Education between 1997 & 2005

Abstract

Objectives: The aim of our study was to determine the risk of aneuploidy and associated malformations in fetuses with holoprosencephaly. We have also analyzed the gestational age during the first examination. Design: We have studied ultrasound reports of fetuses with holoprosencephaly. Materials and Methods: We analyzed 33 cases, diagnosed in the course of the last eight years in our center. All fetuses underwent a detailed ultrasound survey and, in most cases, antenatal karyotyping. In all cases the type of holoprosencephaly was assessed Results: In analyzed fetuses alobar holoprosencephaly was diagnosed in 24, semilobar in 7 and lobar holoprosencephaly in 2 cases. Associated anomalies were detected in 28 (mostly face defects) and chromosomal abnormalities in 12 cases. The median gestational age at the first examination was 25 weeks. No more than 14 examinations had been performed before 24 week. Conclusions: Our findings suggest that in case of fetuses with holoprosencephaly, a detailed ultrasound survey and karyotyping are essential to be performed in all cases. For that reason, patients with fetuses with holoprosencephaly should be diagnosed as early as possible in the referral center.