Open access
Sep 2026
The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.
OBJECTIVE Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government-funded cohort, including diagnostic yield, frequency of variants of uncert...
C. Rowntree, Gemma Fernihough, Sarah Long et al.
· Prenatal Diagnosis · 0 citations