Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing

被引:0
作者
Liu, Xiang-Yin [1 ]
Zhang, Hong-Guo [1 ]
Wang, Rui-Xue [1 ]
Chen, Shuang [1 ]
Yu, Xiao-Wei [1 ]
Liu, Rui-Zhi [1 ]
机构
[1] Jilin Univ, Hosp 1, Ctr Prenatal Diag & Reprod Med, Changchun 130021, Jilin, Peoples R China
关键词
Noninvasive prenatal diagnosis; Positive cell-free fetal DNA testing; Trisomy; 13; Placental mosaicism; NONINVASIVE PRENATAL-DIAGNOSIS; IN-SITU HYBRIDIZATION; MATERNAL PLASMA; ANEUPLOIDY; SERUM; ORIGIN; RISK;
D O I
10.1007/s10815-014-0182-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We investigated the disagreement between the positive cell-free fetal DNA test for trisomy 13 and the standard cytogenetic diagnosis of one case. Cell-free fetal DNA testing was performed by massively parallel sequencing. We used conventional cytogenetic analysis to confirm the commercial cell-free fetal DNA testing. Additionally, postnatal fluorescent in situ hybridization (FISH) testing was performed on placental tissues. The cell-free fetal DNA testing result was positive for trisomy 13. G-banded analysis of amniotic fluid was normal, 46, XY. FISH testing of tissues from four quadrants of the placenta demonstrated mosaicism for trisomy 13. A positive cell-free fetal DNA testing result may not be representative of the fetal karyotype because of placental mosaicism. Cytogenetic analysis should be performed when abnormal cell-free fetal DNA test results are obtained.
引用
收藏
页码:589 / 594
页数:6
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