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

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 u...

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Autores principales: Mitra, Anjali, Dolitsky, Shelley, Yadava, Stacy, Ashkinadze, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108949/
https://www.ncbi.nlm.nih.gov/pubmed/32257592
http://dx.doi.org/10.1055/s-0040-1705131
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author Mitra, Anjali
Dolitsky, Shelley
Yadava, Stacy
Ashkinadze, Elena
author_facet Mitra, Anjali
Dolitsky, Shelley
Yadava, Stacy
Ashkinadze, Elena
author_sort Mitra, Anjali
collection PubMed
description 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.
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spelling pubmed-71089492020-04-01 Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report Mitra, Anjali Dolitsky, Shelley Yadava, Stacy Ashkinadze, Elena AJP Rep 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. Thieme Medical Publishers 2020-01 2020-03-31 /pmc/articles/PMC7108949/ /pubmed/32257592 http://dx.doi.org/10.1055/s-0040-1705131 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Mitra, Anjali
Dolitsky, Shelley
Yadava, Stacy
Ashkinadze, Elena
Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title_full Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title_fullStr Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title_full_unstemmed Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title_short Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report
title_sort smith–lemli–opitz's syndrome as a possible cause of recurrent pregnancy loss: a case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108949/
https://www.ncbi.nlm.nih.gov/pubmed/32257592
http://dx.doi.org/10.1055/s-0040-1705131
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