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

2020 ◽  
Vol 10 (01) ◽  
pp. e118-e120 ◽  
Author(s):  
Anjali Mitra ◽  
Shelley Dolitsky ◽  
Stacy Yadava ◽  
Elena Ashkinadze

AbstractBased 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.

2014 ◽  
Vol 36 (11) ◽  
pp. 1010-1013 ◽  
Author(s):  
Lana Saciragic ◽  
Christopher G. Ball ◽  
Shahidul Islam ◽  
Michael Fung-Kee-Fung

2011 ◽  
Vol 117 (2, Part 2) ◽  
pp. 501-503 ◽  
Author(s):  
Martha W. F. Rac ◽  
Natalie Minns Crawford ◽  
Kevin C. Worley

2012 ◽  
Vol 02 (03) ◽  
pp. 283-286 ◽  
Author(s):  
Naseem M. Khorram ◽  
Susan Horton ◽  
Vicken Sahakian ◽  
Richard Chacon ◽  
Omid Khorram

Author(s):  
Chetana Choudhary ◽  
Lata Rajoria ◽  
Chelsae Kuntal ◽  
Sunita Hemani ◽  
Aditi Bansal ◽  
...  

Introduction: The earliest proof of a viable pregnancy is obtained when cardiac activity of the embryo can be observed. Transvaginal sonography can accurately demonstrate embryonic heart rate at 6 weeks of gestational age by using M-mode transvaginal sonography. Slow embryonic heart rate at 6-7 weeks of gestational age is associated with high rate of first trimester pregnancy loss. AIM:  The study was aimed to evaluate the role of embryonic heart rate (EHR) of early pregnancies as predictive factor of adverse outcome at end of first trimester of pregnancy. Methods: This observational study was conducted in the Department of Obstetrics and Gynecology Zenana Hospital, SMS Medical College, Jaipur. It included 300 pregnant women between 6 weeks to 9 weeks of gestational age attending antenatal OPD. Embryonic heart rate was measured by transvaginal sonography. Embryonic heart rate was classified as slow, if it was fewer than 110 beats/ mint or outcome was measured as occurance of spontaneous pregnancy loss prior to 12 weeks. Results: Out of 300 cases, 290 (96.67%) had embryonic heart rate ?100 beats per minutes and 10(3.33%) had embryonic heart rate <100 beats per minutes. Out of these 290, (Embryonic heart rate ?100 beats per minutes), 284 (97.93%) had good prognosis and 6 (2.07%) had abortion. In 10 women (Embryonic heart rate <100 beats per minutes), 3 (30.00%) had good prognosis and 7 (70.00%) had abortion. This observation was statistically significant. Conclusion: Slow embryonic heart rate on ultrasonography reduced the success of pregnancy and may lead to abortion. Keywords: Embryonic heart rate, Ultrasonography, Early pregnancy loss


2016 ◽  
Vol 105 (3) ◽  
pp. 722-728 ◽  
Author(s):  
Heather Hipp ◽  
Sara Crawford ◽  
Jennifer F. Kawwass ◽  
Jeani Chang ◽  
Dmitry M. Kissin ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Laura Detti ◽  
Ludwig Francillon ◽  
Mary E. Christiansen ◽  
Irene Peregrin-Alvarez ◽  
Patricia J. Goeske ◽  
...  

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