The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome

被引：24

作者：

Dugoff, Lorraine ^{[1
,2
]}

Mennuti, Michael T. ^{[1
,2
]}

McDonald-McGinn, Donna M. ^{[3
,4
,5
]}

机构：

[1] Univ Penn, Dept OB GYN, Div Reprod Genet, Philadelphia, PA 19104 USA

[2] Univ Penn, Dept OB GYN, Div Maternal Fetal Med, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Div Human Genet, You Ctr 22q, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Clin Genet Ctr, Philadelphia, PA 19104 USA

[5] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

PRENATAL DIAGNOSIS | 2017年 / 37卷 / 01期

关键词：

LOW-COPY REPEATS; ANOMALY FACE SYNDROME; DIGEORGE; MICRODELETIONS; PREVALENCE; DEFECTS; PHENOTYPE; EVENTS; MICRODUPLICATIONS; DIAGNOSIS;

D O I：

10.1002/pd.4864

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cell-free DNA testing is increasingly being used to screen pregnant women for fetal aneuploidy. This technology may also identify microdeletion syndromes, including 22q11.2 deletion syndrome, the most common microdeletion syndrome, and the 22q11.2 duplication syndrome. The purpose of this paper is to provide an overview of the 22q11.2 deletion syndrome, to review the early experience with cell-free DNA screening for this deletion and to consider the potential benefits that may be associated with prenatal detection of the deletion. (C) 2016 John Wiley & Sons, Ltd.

引用

页码：53 / 60

页数：8

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