GeneticsbioRxivPreprint
Creating basis for introducing NIPT in the Estonian public health setting
Olga Žilina, Kadri Rekker, Lauris Kaplinski…·Andres Salumets
The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.