Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
Liesbeth VossaertQun WangRoseen SalmanXinming ZhuoChunjing QuDavid HenkeRon SeubertJennifer ChowLance U'renBrennan EnrightJackie StilwellEric KaldjianYaping YangChad ShawBrynn LevyRonald WapnerAmy BremanIgnatia Van den VeyverArthur L BeaudetPublished in: Prenatal diagnosis (2018)
We demonstrate that this cell-based NIPT method has the capacity to reliably diagnose fetal chromosomal abnormalities down to 1 to 2 Mb in size.