LAUSR

s presented at the 2019 Foundation for Reproductive Medicine Conference on Translational Reproductive Biology and Clinical Reproductive Endocrinology # Springer Science+Business Media, LLC, part of Springer Nature 2019 2019 Young Investigator Award Winner 643: Does the CGG repeat size and composition at FMR1 gene explain the unexplained recurrent spontaneous abortion? Deepika Dean, Sarita Agarwal 1 Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India Objective Recurrent spontaneous abortion is multifactorial disorder and till date various factors have been attributed in its pathogenesis. Still approximately 50% of RSA cases remain unexplained. Premutation (PM) expanded allele of fragile-Xmental retardation 1 (FMR1) gene is known to contribute to ovarian dysfunction in 20% of the cases. Recently, link between expanded FMR1 allele and recurrent miscarriages have been reported. Design The present case-control study was conducted in women with RSA of Indian origin comparison to age matched healthy control women (N= 100 each) during the period from 2015 to 2019 Materials and Methods We have investigated the status of CGG repeat size at 5’UTR of the FMR1 gene in all cases and control samples. The genomic DNA from these samples was subjected to molecular analysis for characterization of CGG repeat size and composition at FMR1 gene Results As compared to the control women, the RSA women cohort had a higher frequency of carriers with expanded alleles in grey zone (GZ) and PM range i.e. 2% (2/100) verses 5% (5/100) respectively. Also, the RSA cohort had a significantly higher number of normal alleles with ≥35 CGG repeats (24 out of 200 alleles) as compared to control group (8 out 200 alleles). The number of larger FMR1 alleles with pure CGG repeat tract was found to be significantly higher (P= 0.0058) in the RSA group (17 out of 200 alleles) as compared to that in control group (4 out of 200 alleles). Conclusions Henceforth, the CGG expanded uninterrupted FMR1 allele might be associated with recurrent abortions and may help to explain many of these unexplained cases. Support Funding was received by Council of Scientific and Industrial Research, Lucknow, Government of India. Disclosure Authors have no conflict of Interest. 2019 Young Investigator Award 1 Runner-Up 620: Expression and sequencing of genes involved in the pathogenesis of Mayer Rokitansky Kuster Hauser syndrome Sonal Dugar 1 , Soumia Brakta 1 , Lynn Chorich 1 , Lawrence Layman 1 1 Department of Obstetrics and Gynecology, Section of Reproductive Endocrinology, Infertility, and Genetics, Medical College of Georgia at Augusta University, Augusta, United States of America Objective Uterine and vaginal anomalies occur commonly in women with reproductive dysfunction. Mayer Rokitansky Kuster Hauser syndrome (MRKH), otherwise known as Mullerian Aplasia, falls at the severe end of the spectrum of such anomalies and affects approximately 1 in every 4000 women. This Journal of Assisted Reproduction and Genetics https://doi.org/10.1007/s10815-019-01626-3