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CC BY-NC-ND 4.0 · AJP Rep 2020; 10(01): e118-e120
DOI: 10.1055/s-0040-1705131
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Anjali Mitra
1   Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey
,
Shelley Dolitsky
1   Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey
,
Stacy Yadava
1   Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey
,
Elena Ashkinadze
1   Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey
› Author Affiliations
Further Information

Publication History

16 December 2019

20 December 2019

Publication Date:
31 March 2020 (online)

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Abstract

Based 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.

Keywords

Smith–Lemli–Opitz's syndrome - expanded carrier screening - recurrent pregnancy loss
 

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