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Published: 2025-12-30
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DOI: https://doi.org/10.52852/tcncyh.v197i12.4462
Issue
Vol. 197 No. 12 (2025)
Section
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How to Cite
Dư, T. D., Việt, Đinh H., Huynh, N. V., Minh, P. Đình, Trang, N. T. H., & Hoa, B. T. P. (2025). Recurrent miscarriage: The role of multigene sequencing in genetic screening and counseling. Journal of Medical Research, 197(12), 1-10. https://doi.org/10.52852/tcncyh.v197i12.4462

Recurrent miscarriage: The role of multigene sequencing in genetic screening and counseling

Tran Dieu Du, Dinh Huu Viet, Nguyen Van Huynh, Pham Dinh Minh, Nguyen Thi Huyen Trang, Bui Thi Phuong Hoa

Main Article Content

Abstract

This study aimed to describe the spectrum of genetic variants identified using the FertiScan™ panel in women with a history of recurrent pregnancy loss (RPL) of unknown etiology. A case series was conducted on 20 infertile women with a history of ≥2 consecutive spontaneous miscarriages (RPL) at Andrology and Fertility Hospital of Hanoi from May to August 2023. The FertiScan™ Global Female Infertility Panel, covering 70 genes was employed. This panel is based on next-generation sequencing (NGS) technology and targets both coding regions and exon-intron boundaries of genes associated with female reproductive function. Among the 20 patients, 12 (60%) carried at least one variant in genes related to reproductive function. Four patients were found to carry pathogenic or likely pathogenic (P/LP) variants, primarily in the heterozygous state of autosomal recessive disorders. A considerable proportion of variants of uncertain significance (VUS) was also identified. Several variants were located in biologically relevant genes such as CEP250, TACR3, NOBOX, and ZP1. Multigene testing using FertiScan™ can enhance the detection of potential genetic contributors in cases of unexplained RPL. Its clinical utility is maximized when incorporated into a structured framework of pre- and post-test genetic counseling and long-term reproductive follow-up.

Article Details

Keywords

Genetics, recurrent pregnancy loss, FertiScan™, female infertility, NGS

References

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