Uncovering Hidden Genetic Causes of Infertility June 2, 2026 The Pathologist Share Summary Takeaways Listen Clinical Scorecard Quiz Top Institutions 1 Long-read whole genome sequencing (WGS) may simplify genetic testing for unexplained subfertility and recurrent pregnancy loss. 2 The study involved 96 individuals from fertility centers in Asia, evaluating the effectiveness of HiFi long-read sequencing. 3 Pathogenic or likely pathogenic variants were identified in 4.8% of individuals, with about one in 10 couples carrying significant genetic variants. 4 The sequencing identified variants linked to conditions like premature ovarian insufficiency and spermatogenic failure in both partners. 5 Challenges include the difficulty in detecting balanced chromosomal rearrangements and the high cost of long-read sequencing.
