Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

ABSTRACT:

Objective

Non-invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed.

Method

NIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N = 9) or low mosaic karyotype (N = 1) in amniotic fluid (AF) were investigated. The cytotrophoblast as well as the mesenchymal core of two to four placental chorionic villi biopsies were studied with single nucleotide polymorphism (SNP) array. Clinical outcome data were collected.

Results

In 10/10 cases, CPM was proven. In 3/10 cases trisomy/uniparental

SUBMITTER: Van Opstal D 

PROVIDER: S-EPMC6282787 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature