A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.

ABSTRACT:

Background

Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, the segmental deletions and duplications should also be concerned. Except that some cases had increased nuchal translucency or holoprosencephaly, most of the fetal phenotype of 18p deletion syndrome may not be evident during the pregnancy, 18p deletion syndrome was always accidentally discovered during the prenatal examination.

Case presentations

In our case, we found a pure partial monosomy 18p deletion during the confirmation of the result of

SUBMITTER: Zhao G 

PROVIDER: S-EPMC6925888 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature