Chromosomal microarray versus karyotyping for prenatal diagnosis.
Chromosomal microarray versus karyotyping for prenatal diagnosis.
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DOI：
10.1056/nejmoa1203382
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发表时间：
2012-12-06
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通讯作者：
Jackson L
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作者：
Wapner RJ;Martin CL;Levy B;Ballif BC;Eng CM;Zachary JM;Savage M;Platt LD;Saltzman D;Grobman WA;Klugman S;Scholl T;Simpson JL;McCall K;Aggarwal VS;Bunke B;Nahum O;Patel A;Lamb AN;Thom EA;Beaudet AL;Ledbetter DH;Shaffer LG;Jackson L
染色体微阵列分析已成为评价儿童发育迟缓和结构畸形的主要诊断工具。我们的目的是评估染色体微阵列分析的准确性，有效性和增量产量相比，核型分析常规产前诊断。在29个中心接受产前诊断的妇女的样本被送往中央核型分析实验室。每个样本被分成两部分;对一部分进行标准核型分析，另一部分被送到四个实验室之一进行染色体微阵列。我们总共招募了4406名女性。产前诊断指征为高龄孕妇（46.6%）、唐氏综合征筛查异常（18.8%）、超声检查结构异常（25.2%）和其他指征（9.4%）。在4340例（98.8%）胎儿样本中，微阵列分析是成功的; 87.9%的样本可以在没有组织培养的情况下使用。微阵列分析的4282 nonmosaic样本确定了所有的非整倍体和不平衡的染色体组型鉴定重排，但没有确定平衡易位和胎儿三倍体。在正常核型的样本中，微阵列分析显示，6.0%的结构异常和1.7%的指征是高龄产妇或阳性筛查结果的患者存在临床相关的缺失或重复。在产前诊断测试的背景下，染色体微阵列分析确定了额外的，临床上显着的细胞遗传学信息相比，核型分析，并同样有效地确定非整倍体和不平衡重排，但没有确定平衡易位和三倍体。（由尤尼斯·肯尼迪·施莱佛国家儿童健康和人类发展研究所和其他机构资助; ClinicalTrials.gov编号，NCT 01279733。
Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.)