Hakan Timur

Multimodal genomic testing in prenatal diagnosis: incremental diagnostic contribution of chromosomal microarray and exome sequencing, real-world NIPT confirmation rates and pregnancy outcomes in 120 consecutive amniocenteses from northeastern Türkiye — a retrospective cohort study

Most evidence on chromosomal microarray analysis (CMA) and exome sequencing (ES) in prenatal diagnosis comes from high-volume centres. We evaluated the incremental diagnostic contribution of additional testing modalities, non-invasive prenatal testing (NIPT) confirmation rates and pregnancy outcomes at a regional centr...