The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

被引：150

作者：

Callaway, Jonathan L. A. ^{[1
]}

Shaffer, Lisa G. ^{[3
]}

Chitty, Lyn S. ^{[4
,5
,6
]}

Rosenfeld, Jill A. ^{[7
]}

Crolla, John A. ^{[1
,2
]}

机构：

[1] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

[2] Univ Southampton, Fac Med, Dept Human Genet & Genom Med, Southampton Gen Hosp, Southampton SO9 5NH, Hants, England

[3] Genet Vet Sci Inc, Paw Print Genet, Spokane, WA USA

[4] UCL Inst Child Hlth, Clin & Mol Genet Unit, London, England

[5] Great Ormond St NHS Fdn Trust, London, England

[6] Univ Coll London Hosp NHS Fdn Trust, London, England

[7] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA

来源：

PRENATAL DIAGNOSIS | 2013年 / 33卷 / 12期

基金：

英国医学研究理事会;

关键词：

COMPARATIVE GENOMIC HYBRIDIZATION; ARRAY-CGH; CHROMOSOMAL MICROARRAY; SNP ARRAY; DIAGNOSIS; FETUSES; PREGNANCIES; IDENTIFICATION; ABNORMALITIES;

D O I：

10.1002/pd.4209

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs. (c) 2013 John Wiley & Sons, Ltd.

引用

页码：1119 / 1123

页数：5

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