Di-Yu Chen

Performance of non-invasive prenatal screening for 15q11q13 copy number variations in a cohort of 90,693 pregnancies

Deletions and duplications within the 15q11q13 chromosomal region are associated with Prader-Willi syndrome, Angelman syndrome, and 15q11q13 duplication syndrome. However, prenatal ultrasound findings were unremarkable in the majority of affected fetuses. The aim of this study was to evaluate the efficacy of non-in...