Whole exome sequencing in couples with unexplained infertility (pilot study)


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Abstract

Aim: To conduct a pilot study of whole exome sequencing in couples with unexplained infertility. Materials and methods: Whole exome sequencing was performed using DNA from peripheral blood samples obtained from six married couples (women and men). The samples were purposefully selected in the group of unexplained infertility on the basis of clinical and anamnestic findings, laboratory and instrumental parameters, and the results of using assisted reproductive technologies. Assessment of clinical significance (pathogenicity) of the identified variants was based on the American College of Medical Genetics and Genomics (ACMG) guidance for the interpretation of sequence variants and the recommendations of the Russian Society of Medical Geneticists for interpretation of the obtained data using next-generation sequencing. Results: Whole exome sequencing in 6 married couples with unexplained infertility showed no pathogenic/likely pathogenic variants related to patients phenotype, as well as incidental (secondary) findings according to ACMG list of genes. Conclusion: Whole exome sequencing in the most typical patients with unexplained infertility found no variants, which are known to be associated with infertility.

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About the authors

Evgeniya V. Kirakosyan

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University); Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: evgeniya.kirakosyan@mail.ru
Ph.D. student, Department of Obstetrics, Gynecology, Perinatology and Reproductology

Ekaterina A. Pomerantseva

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e.pomerantseva@gmail.com
Ph.D., geneticist, Department of Clinical Genetics, Institute of Reproductive Genetics

Stanislav V. Pavlovich

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University); Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: s_pavlovich@oparina4.ru
Ph.D., Academic Secretary; Professor, Department of Obstetrics, Gynecology, Perinatology and Reproductology

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