Prenatal phenotype of 10p15.3 microdeletion syndrome: A series of five cases

The aim of the study was to present the fetal features of chromosome 10p15.3 microdeletion syndrome to gain awareness that the antenatal characteristics can be very nonspecific.

This was a retrospective study of five cases with 10p15.3 microdeletion syndrome diagnosed in utero. Two cases were diagnosed in the first trimester because of increased nuchal translucency (NT). Three had normal routine first-trimester and second-trimester ultrasound scans, and were diagnosed because of fetal growth restriction (FGR) identified in the third trimester. Chromosome 10p15.3 deletion sizes ranged from 0.14 Mb to 3.17 Mb. Only one haploinsufficient gene ZMYND11 was contained in the five deletions, with one intragenic deletion and three whole gene deletions.

Although it presents non-specific abnormal fetal ultrasound, 10p15.3 microdeletion syndrome can be diagnosed in utero, with the application of advanced molecular tests in pregnancies with nonspecific fetal features such as FGR.