Prenatal diagnosis of holoprosencephaly associated with Smith –Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith –Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal anomalies.

Source: Taiwanese Journal of Obstetrics and Gynecology - August 1, 2017 Category: OBGYN Authors: Andr é Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa Tags: Case Report Source Type: research