A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings

被引：19

作者：

Pan, Qiong ^{[1
]}

Sun, Baojuan ^{[1
]}

Huang, Xiaoli ^{[1
]}

Jing, Xin ^{[1
]}

Liu, Hailiang ^{[3
]}

Jiang, Fuman ^{[4
]}

Zhou, Jie ^{[1
]}

Lin, Mengmeng ^{[4
]}

Yue, Hongni ^{[1
]}

Hu, Ping ^{[2
]}

Ning, Ying ^{[1
]}

机构：

[1] Huaian Maternal & Child Hlth Care Hosp Jiangsu Pr, Dept Prenatal Diag, Lab Clin Genet, Huaian 223002, Peoples R China

[2] Nanjing Med Univ, Nanjing Matern & Child Hlth Care Hosp, Dept Prenatal Diag, State key Lab Reprod Med, Nanjing 210029, Jiangsu, Peoples R China

[3] iGenomics, Guangzhou, Guangdong, Peoples R China

[4] BGI Shenzhen, Shenzhen, Peoples R China

来源：

MOLECULAR CYTOGENETICS | 2014年 / 7卷

关键词：

Non-invasive prenatal testing; Massively parallel sequencing; Mosaicism; MATERNAL PLASMA; DNA; ORIGIN;

D O I：

10.1186/1755-8166-7-48

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

引用

页数：5

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