Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing

Abstract

Prenatal diagnosis of trisomy 20p seems to be difficult, considering the capacity of ultrasound to detect mild dysmorphic. NIPT has good performance in detecting fetal trisomy 20p combined with low coverage WGS and karyotype analysis.

Keywords: genetics; obstetrics and gynaecology.