The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
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DOI：
10.1002/pd.4209
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发表时间：
2013-12
影响因子：
3
通讯作者：
Crolla, John A.
中科院分区：
文献类型：
--
作者：
Callaway, Jonathan L. A.;Shaffer, Lisa G.;Chitty, Lyn S.;Rosenfeld, Jill A.;Crolla, John A.
当用于产前诊断时，微阵列技术的临床效用在于该技术能够检测与临床显著结果相关的亚显微拷贝数变化。我们对文献进行了系统的回顾，以计算在常规核型正常的情况下产前微阵列的实用性。在从所有产前确诊组招募病例的12362例研究中，295/12362例（2.4%）总体报告了具有相关临床意义（pCNC）的拷贝数变化，201/3090（6.5%）当超声检查发现异常时，50/5108（1.0%）是由于母亲年龄增加而确定的，44/4164（1.1%）是由于所有其他确定组（如父母焦虑和血清筛查结果异常）。当纳入额外的产前微阵列研究时，其中确定仅限于超声扫描异常的胎儿，262/3730（7.0%）报告有pCNCs。© 2013作者。Prenatal Diagnosis出版社：John Wiley & Sons Ltd.
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 12 362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12 362 (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. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
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