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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2020-01-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1705131 |
| _version_ | 1811323267490775040 |
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| author | Anjali Mitra Shelley Dolitsky Stacy Yadava Elena Ashkinadze |
| author_facet | Anjali Mitra Shelley Dolitsky Stacy Yadava Elena Ashkinadze |
| author_sort | Anjali Mitra |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T13:52:12Z |
| format | Article |
| id | doaj.art-64e26efd7ac74edeb8642377ea5e244a |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-04-13T13:52:12Z |
| publishDate | 2020-01-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-64e26efd7ac74edeb8642377ea5e244a2022-12-22T02:44:18ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052020-01-011001e118e12010.1055/s-0040-1705131Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case ReportAnjali Mitra0Shelley Dolitsky1Stacy Yadava2Elena Ashkinadze3Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New JerseyDepartment of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New JerseyDepartment of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New JerseyDepartment of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New JerseyBased 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1705131smith–lemli–opitz's syndromeexpanded carrier screeningrecurrent pregnancy loss |
| spellingShingle | Anjali Mitra Shelley Dolitsky Stacy Yadava Elena Ashkinadze Smith–Lemli–Opitz's Syndrome as a Possible Cause of Recurrent Pregnancy Loss: A Case Report American Journal of Perinatology Reports smith–lemli–opitz's syndrome expanded carrier screening recurrent pregnancy loss |
| 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 |
| topic | smith–lemli–opitz's syndrome expanded carrier screening recurrent pregnancy loss |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1705131 |
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