Using HiFi Long-Read Whole Genome Sequencing To Enhance Diagnosis In Patients With Subfertility And/Or Recurrent Pregnancy Loss

Subfertility and recurrent pregnancy loss (RPL) affect a significant proportion of couples worldwide. Genetic causes can be seen in up to 30% of these individuals but require multiple genetic tests, which often impede a comprehensive work up. Newer genomic technologies, such as PacBio HiFi long read sequencing (LRS) can detect most subclasses of variations (such as structural rearrangement, monogenic disorders) through one single test. In this multicenter study, we enrolled couples with unexplained subfertility and/or RPL and performed HiFi LRS to determine the underlying genetic etiology. Participants were recruited using a standardized inclusion/ exclusion criteria to rule out other known