Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian Cohort
Akanksha M Tiwari, Kavyashree Padumale, Apoorva Bhandaru, Sushma Gandla, Suparna Maji, Ram Kumar, Honey Sharma, Nithyanandan Thangavel, Sameer Phalke, N Faheena, Shanmukh Katragadda, Vamsi Veeramchaneni, Ramesh Hariharan, Aparna Ganapathy
This study evaluates low-pass whole genome sequencing for prenatal chromosomal abnormality detection in an Indian cohort, finding a 11.1% diagnostic yield with higher detection in first-trimester samples.
medRxiv · Jul 7, 2025 · PreprintGenetic & Genomic Medicine