A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis

被引：15

作者：

Chen, Chong ^{[1
]}

Cram, David S. ^{[2
]}

Xie, Fanni ^{[1
]}

Wang, Ping ^{[1
,3
]}

Xu, Xueqin ^{[1
]}

Li, Huanzheng ^{[1
]}

Song, Zhuo ^{[2
]}

Chen, Di ^{[2
]}

Zhang, Jianguang ^{[2
]}

Tang, Shaohua ^{[1
,3
]}

机构：

[1] Wenzhou Med Coll, Dingli Clin Med Sch, Dept Genet, Wenzhou, Zhejiang, Peoples R China

[2] Berry Genom C Ltd, Beijing, Peoples R China

[3] Zhejiang Key Lab Med Genet, Wenzhou, Zhejiang, Peoples R China

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2014年 / 29卷 / 01期

关键词：

circulating cell-free fetal DNA; confined placental mosaicism; noninvasive prenatal diagnosis;

D O I：

10.1016/j.rbmo.2014.03.017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

This study investigated a pregnancy where the fetus was diagnosed with monosomy 18p by invasive amniocentesis and karyotyping. Additional noninvasive prenatal diagnosis, which detects fetal chromosome abnormalities in the circulating cell-free plasma DNA originating from the placenta revealed a related 18p monosomy/18q trisomy, suggesting confined placental mosaicism. Based on recent observations of chromosomal instability in the early preimplantation embryo, this study speculates on the possible embryonic origin(s) of these related but discordant chromosome 18 aneuploidies in the placental and fetal tissues. The findings highlight the potential for both false-positive and - negative noninvasive prenatal diagnosis results in pregnancies where there is either confined placental mosaicism or placental mosaicism. (C) 2014, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：136 / 139

页数：4

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