Genetic & Genomic MedicinemedRxivPreprint
Trio exome sequencing as the stand-alone first-tier testing for prenatal diagnosis
Haibo Li, Lulu Yan, Yuxin Zhang…·Changshui Chen
This study shows that trio exome sequencing is effective as a standalone first-tier test for prenatal diagnosis, offering higher diagnostic yield and clinical impact compared to traditional methods.
DOI 10.1101/2025.07.23.25331964