The study was conducted with the objective of investigating the spectrum of genetic variants detected by FertiScan™ (a test designed to identify genetic abnormalities associated with female infertility and recurrent pregnancy loss) in women with a history of recurrent miscarriage.
The study population consisted of 20 infertile women with a history of recurrent pregnancy loss (RPL). RPL was defined as two or more consecutive spontaneous miscarriages before 20 weeks of gestation at the Hanoi Hospital of Andrology and Infertility from May to August 2023.
The study indicates that recurrent miscarriage and repeated fetal loss are common challenges in assisted reproductive practice, affecting approximately 1–5% of women of reproductive age. In addition to uterine anatomical, endocrine, immunohematological, and infectious causes, genetic factors play an important role but are not easily detected by routine testing. The cause of miscarriage remains unknown in more than 50% of these cases.
Karyotype analysis and microarray testing are useful for identifying chromosomal numerical and structural abnormalities, but they remain limited in detecting single-gene causes related to oocyte development, meiosis, implantation, and early embryonic viability. Therefore, targeted molecular genetic approaches are receiving increasing attention.
In recent years, next-generation sequencing (NGS) panels have enabled simultaneous analysis of multiple genes related to female reproduction, expanding the ability to identify genetic etiologies in patients with recurrent miscarriage and fetal loss. Among these, the FertiScan™ Global Female Infertility Panel is a representative tool, covering more than 70 genes involved in key pathogenic mechanisms including premature ovarian failure and ovarian dysfunction, ovarian dysgenesis, defects in oocyte maturation, abnormal oocyte–zona pellucida–fertilization interactions, genes affecting implantation and endometrial signaling, as well as DNA repair genes associated with early embryonic lethality.
This approach not only increases the detection rate of clinically significant genetic variants but also supports personalized counseling and intervention strategies, including partner testing in autosomal recessive disorders, indications for PGT-M or PGT-SR, and prenatal genetic screening when appropriate.
In Vietnam, data on the prevalence of genetic variants in women with unexplained recurrent pregnancy loss remain limited. This gap restricts optimal prognostic counseling and personalized treatment, particularly in cases with normal karyotype results but persistent pregnancy loss.
The implementation of specialized targeted NGS panels such as FertiScan™ provides value in identifying subsets of patients carrying pathogenic or likely pathogenic variants truly associated with reproductive biological mechanisms, and in documenting variants of uncertain significance (VUS) within the Vietnamese population in order to gradually standardize variant interpretation according to the classification guidelines of the American College of Medical Genetics and Genomics (ACMG). FertiScan™ results are interpreted following ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology) variant classification guidelines, including pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS), and benign/likely benign. Variant classification is always considered within the specific clinical and family context to ensure individual appropriateness.
From an application perspective, FertiScan™ enhances the detection of monogenic causes in patients with recurrent pregnancy loss, particularly in cases without chromosomal abnormalities identified by karyotype or microarray. The test also supports personalized genetic counseling, including partner testing in recessive genetic conditions, recommendations for PGT-M/PGT-SR, and the development of appropriate prenatal or preconception screening plans. Furthermore, FertiScan™ demonstrates strong potential for application in genetic epidemiology research in Vietnam, contributing to the establishment of population-based variant databases, thereby improving the accuracy of variant interpretation and the quality of diagnosis, counseling, and future interventions.
These results highlight the importance of systematically integrating genetic testing into the evaluation of recurrent miscarriage and fetal loss, with multigene testing positioned within structured pre- and post-test counseling and long-term follow-up strategies.
With the mission of “Enhancing the intellectual and physical well-being of the Vietnamese people,” Eurofins GENTIS continues its collaboration with the Hanoi Hospital of Andrology and Infertility to implement high-value medical research and to further develop a comprehensive ecosystem of advanced genetic testing. Through these efforts, Eurofins GENTIS contributes to delivering modern healthcare solutions and supporting medical professionals in improving reproductive healthcare for the community.
