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

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

• References

• 1 Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M. ; Smith-Lemli-Opitz syndrome Collaborative Group. Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?. J Inherit Metab Dis 2010; 33 (Suppl. 03) S241-S248
• 2 Lazarin GA, Haque IS, Evans EA, Goldberg JD. Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. Prenat Diagn 2017; 37 (04) 350-355
• 3 Balogh I, Koczok K, Szabó GP. , et al. Mutational spectrum of Smith-Lemli-Opitz syndrome patients in Hungary. Mol Syndromol 2012; 3 (05) 215-222
• 4 Ryan AK, Bartlett K, Clayton P. , et al. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet 1998; 35 (07) 558-565
• 5 Kratz LE, Kelley RI. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 1999; 82 (05) 376-381
• 6 Kutteh WH. Novel strategies for the management of recurrent pregnancy loss. Semin Reprod Med 2015; 33 (03) 161-168
• 7 Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol 2017; 129 (03) e41-e55