Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype
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DOI：
10.1055/s-0036-1586501
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发表时间：
2017-03-01
影响因子：
2
通讯作者：
Divon, Michael Y.
中科院分区：
文献类型：
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作者：
Bornstein, Eran;Berger, Sharon;Divon, Michael Y.
目的评价产前染色体微阵列分析（CMA）对所有指征的附加价值，以及基于特定指征检测病理拷贝数变异（CNVs）的可能性。方法回顾性分析2010 - 2014年在同一机构获得的胎盘穿刺和绒毛取样结果。共有3，314名连续患者接受了针对不同适应症的侵入性基因检测，除标准核型外，还提供了CMA。比较低风险适应症患者和高风险适应症患者的病理性CNVs患病率。同样，计算不同超声异常患者中病理性CNV的患病率，并与低风险组进行比较。结果高危组和超声异常组的病理性CNVs检出率明显高于低危组（分别为2.8%和5.9%vs.0.4%，p < 0.05）。严重的结构畸形和颈部透亮度（NT）>= 3.0 mm与CMA异常的最高风险相关。然而，在低风险人群中病理性CNVs的患病率足够高（1：250），可以考虑在该组中进行遗传咨询。
Objective To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications.Methods A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype. The prevalence of pathologic CNVs was compared between patients with low-risk indications and those with high-risk indications. Likewise, the prevalence of pathologic CNVs among patients with different sonographic abnormalities was calculated and compared with the low-risk group. Chi-square and Fisher exact tests were used for statistical analysis.Results The prevalence of pathologic CNVs was significantly higher in patients with high-risk indications and specifically those with sonographic abnormalities, compared with the low-risk group (2.8 and 5.9% vs. 0.4%, respectively; all p < 0.05).Conclusion Prenatal CMA detected clinically relevant CNVs in fetuses with a normal karyotype. Major structural malformations and nuchal translucency (NT) >= 3.0 mm are associated with the highest risk for a CMA abnormality. Nevertheless, the prevalence of pathologic CNVs in the low-risk population was high enough (1:250) to consider genetic counseling in this group.