Smith –Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report

AJP Rep 2020; 10: e118-e120 DOI: 10.1055/s-0040-1705131Based on the known carrier frequency of Smith–Lemli–Opitz's syndrome (SLOS), the prevalence of this disease should be significantly higher than what is observed in the population. This may be due to a higher rate of pregnancy loss in affected embryos. Here, we present the case of a couple who underwent expanded carrier screening (ECS) after experiencing three first trimester pregnancy losses. Both parents were found to be carriers of SLOS mutations, and DNA analysis of the fetal remains of the third loss revealed the aborted fetus had inherited both the maternal and paternal mutations. This suggests SLOS as a reason for this patient's recurrent pregnancy loss (RPL), and therefore, ECS should be considered as part of the RPL work-up. [...] Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: American Journal of Perinatology Reports - Category: Perinatology & Neonatology Authors: Tags: Case Report Source Type: research