Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes.
10.3760/cma.j.cn511374-20200803-00574
- VernacularTitle:限制性胎盘嵌合对无创产前检测的影响及临床分析
- Author:
Xiaoqing WU
1
;
Hailong HUANG
;
Xuemei CHEN
;
Xiaolan CHEN
;
Qingmei SHEN
;
Deqin HE
;
Liangpu XU
Author Information
1. Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Child Health Cave Hospital, the Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Female;
Humans;
Mosaicism;
Pregnancy;
Pregnancy Outcome;
Prenatal Diagnosis;
Trisomy
- From:
Chinese Journal of Medical Genetics
2021;38(4):335-338
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.
METHODS:Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.
RESULTS:Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.
CONCLUSION:NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.
