Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
J Clin Lab Anal. 2020 Apr;34(4):e23117. doi: 10.1002/jcla.23117. Epub 2019 Nov 24.
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.
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.
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.
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).
Chromosomal microarray analysis should be available to all women with AMA undergoing invasive prenatal testing, regardless of ultrasound findings.
染色体微阵列分析（CMA）已被建议常规用于伴有超声异常（UA）的胎儿，尤其是伴有超声结构异常（USA）的胎儿。对于行侵袭性产前检测的高龄产妇（AMA），是否常规提供 CMA 尚不确定。
本研究旨在评估 CMA 检测 AMA 孕妇伴或不伴 UA 的胎儿临床显著染色体异常的效率。
获取因 AMA 行产前 CMA 的单胎妊娠数据，伴或不伴 UA。将纳入的病例分为 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。
共纳入 703 例，分为 A 组（N=437）和 B 组（N=266）。CMA 检测出 52 例（7.4%，52/703）有临床意义的异常，A 组显著低于 B 组（3.9% vs 13.2%，P<.05）；两组间亚临床意义的微小变体无统计学差异（0.9% vs 2.6%，P>.05）。
所有行侵袭性产前检测的 AMA 妇女均应进行 CMA，无论超声检查结果如何。
