Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges Научная публикация

Журнал

Genes
ISSN: 2073-4425

Вых. Данные

Год: 2025, DOI: 10.3390/genes17010003

Ключевые слова

carrier screening; genetic variants; gene mutation; autosomal recessive disorders; X-linked disorders

Авторы

Глотов Андрей Сергеевич ¹ , Насыхова Юлия Алмазовна ¹ , Лазарева Татьяна Евгеньевна ¹ , Двойнова Н. М. ¹ , Шабанова Елена ¹ , Данилова Мария Михайловна ¹ , Осиновская Наталья Сергеевна ¹ , Барбитов Юрий Александрович ¹ , Маретина Марианна Александровна ¹ , Городничева Елизавета ¹ , Тонян Зиравард Николаевна ¹ , Киселев Антон Вячеславович ¹ , Басипова Анастасия Алексеевна ¹ , Беспалова Олеся Николаевна ¹ , Коган Игорь Юрьевич ¹

Организации

1	Federal State Budgetary Scientific Institution "The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott"

Информация о финансировании (1)

Министерство науки и высшего образования Российской Федерации

FGWN-2023-0010

Background/Objectives: This study reports on findings from the first preconception screening performed in Russia and provides a comprehensive discussion of the significant results and challenges faced during the implementation of the project. Methods: Using a targeted sequencing panel of 33 genes (associated with 29 autosomal recessive and 4 X-linked diseases), we analyzed 165 couples considering pregnancy. The screening design also included analysis of the frequent pathogenic variants in the SMN1, DMD, CFTR, and CYP21A2 genes that may not be detected through the next-generation sequencing approach. The sequential screening protocol, wherein the female partner was tested first, was used. Results: The results revealed that 35.8% of women (n = 59) were carriers of at least one pathogenic or likely pathogenic (P/LP) variant, with 7.9% of women (n = 13) carrying variants in two or more genes. Notably, the analysis identified 5 deletions of exon 7 in the SMN1 gene, 1 deletion of the CYP21A2 gene, and 1 large duplication in the DMD gene in female participants. The most frequently identified pathogenic variants occurred in the CYP21A2, GJB2, SERPINA1, and ATP7B genes. The screening identified six couples (3.6% of the cohort) at high risk of having a child with an autosomal recessive or X-linked genetic disorder. Conclusions: This pilot study confirms the high clinical utility of the gene panel, effectively evaluating reproductive risk in couples without a known family history of monogenic diseases. The findings indicate that the observed frequencies of identified gene variants differ from those theoretically expected, with a notable percentage of identified couples being at relatively high risk. Furthermore, these results highlight the indispensable role of comprehensive genetic counseling both before and after testing to ensure an appropriate preconception testing algorithm and informed reproductive decision-making.

Glotov A.S. , Nasykhova Y.A. , Lazareva T.E. , Dvoinova N.M. , Shabanova E. , Danilova M.M. , Osinovskaya N.S. , Barbitov Y.A. , Maretina M.A. , Gorodnicheva E. , Tonyan Z.N. , Kiselev A.V. , Basipova A.A. , Bespalova O.N. , Kogan I.Y.
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges
Genes. 2025. DOI: 10.3390/genes17010003 OpenAlex

Поступила в редакцию:	24 нояб. 2025 г.
Принята к публикации:	11 дек. 2025 г.
Опубликована в печати:	19 дек. 2025 г.
Опубликована online:	19 дек. 2025 г.

OpenAlex:

W4417500796

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