Cell-free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

被引：7

作者：

Crooks, Kristy ^{[1
]}

Edwardsen, Ginger ^{[2
]}

O'Connor, Siobhan ^{[1
]}

Powell, Cynthia ^{[3
,4
]}

Vargo, Diane ^{[2
]}

Vora, Neeta ^{[2
]}

Kaiser-Rogers, Kathleen ^{[1
,3
,4
]}

机构：

[1] Univ N Carolina, Sch Med, Dept Pathol & Lab Med, Chapel Hill, NC USA

[2] Univ N Carolina, Sch Med, Dept Obstet & Gynecol, Chapel Hill, NC USA

[3] Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC USA

[4] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA

来源：

CLINICAL CASE REPORTS | 2016年 / 4卷 / 01期

关键词：

Aneuploidy; cell-free fetal DNA; confined placental mosaicism; noninvasive prenatal testing;

D O I：

10.1002/ccr3.421

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.

引用

页码：19 / 22

页数：4

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