Ontology highlight
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 disomy (UPD)/biparental disomy (BPD) mosaicism was discovered. In 2/3 cases, all three cell lines were present in the placenta, whereas BPD was found in AF. In 1/3 cases trisomy 22/UPD22 was present in AF while trisomy 22/BPD22 mosaicism was found in the placenta. Five of 10 pregnancies were affected with pre-eclampsia, low birth weight, preterm delivery, and/or congenital malformations.Conclusion
The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.
SUBMITTER: Van Opstal D
PROVIDER: S-EPMC6282787 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Van Opstal Diane D Diderich Karin E M KEM Joosten Marieke M Govaerts Lutgarde C P LCP Polak Joke J Boter Marjan M Saris Jasper J JJ Cheung Wai Yee WY van Veen Stefanie S van de Helm Robert R Go Attie T J I ATJI Knapen Maarten F C M MFCM Papatsonis Dimitri N M DNM Dijkman Anneke A de Vries Femke F Galjaard Robert-Jan H RH Hoefsloot Lies H LH Srebniak Malgorzata I MI
Prenatal diagnosis 20180927 12
<h4>Objective</h4>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.<h4>Method</h4>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) we ...[more]