背景:已建议对超声异常(UA)的胎儿常规进行染色体微阵列分析(CMA),特别是超声结构异常(美国)。在接受有创产前检测时,是否定期向没有UA的高龄孕妇(AMA)提供CMA尚无定论。
目的:本研究旨在评估CMA在检测胎儿临床上显着的染色体异常方面的效率,不管有没有UA,女性与AMA
方法:由于AMA导致的产前CMA单胎妊娠数据,获得或不获得UA。将入选病例分为AMA组(A组)和AMA伴UA组(B组)。同时进行单核苷酸多态性(SNP)阵列技术和常规核型分析。
结果:共703例,分为A组(N=437)和B组(N=266)。52例CMA检测到有临床意义的异常(7.4%,52/703;A组的值明显低于B组(3.9%vs13.2%,P<.05);两组之间在具有临床意义的亚显微变异方面没有观察到统计学差异(0.9%vs2.6%,P>.05)。
结论:染色体微阵列分析应适用于所有接受侵入性产前检测的AMA女性,无论超声检查结果如何。
BACKGROUND: Chromosomal microarray analysis (CMA) has been suggested to be routinely conducted for fetuses with ultrasound abnormalities (UA), especially with ultrasound structural anomalies (USA). Whether to routinely offer CMA to women of advanced maternal age (AMA) without UA when undergoing invasive prenatal testing is inconclusive.
OBJECTIVE: This study aimed to evaluate the efficiency of CMA in detecting clinically significant chromosomal abnormalities in fetuses, with or without UA, of women with AMA.
METHODS: Data from singleton pregnancies referred for prenatal CMA due to AMA, with or without UA were obtained. The enrolled cases were divided into AMA group (group A) and AMA accompanied by UA group (group B). Single nucleotide polymorphism (SNP) array technology and conventional karyotyping were performed simultaneously.
RESULTS: A total of 703 cases were enrolled and divided into group A (N = 437) and group B (N = 266). Clinically significant abnormalities were detected by CMA in 52 cases (7.4%, 52/703; the value in group A was significantly lower than that in group B (3.9% vs 13.2%, P < .05); no statistic difference was observed with respect to submicroscopic variants of clinical significance between the two groups (0.9% vs 2.6%, P > .05).
CONCLUSIONS: Chromosomal microarray analysis should be available to all women with AMA undergoing invasive prenatal testing, regardless of ultrasound findings.