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Abstract：
Recently, chromosomal microarray analysis (CMA) has been implemented as a first-tier test in pregnancies with ultrasound anomalies. However, its application for pregnancies with abnormal maternal serum screening (AMSS) only is not widespread. This study evaluated the value of CMA compared to traditional karyotyping in pregnancies with increased risk following first- or second-trimester maternal serum screening. Data from 3973 pregnancies with referral for invasive prenatal testing following AMSS were obtained from April 2016 to May 2020. Routine karyotyping was performed and single nucleotide polymorphism array was recommended. The foetuses were categorized according to the indications as AMSS only (group A) and AMSS with ultrasound anomalies (group B). CMA was performed on 713 prenatal samples. The proportion of women opting for CMA testing in both groups increased over the years. The incremental yield of clinically significant findings for pregnancies with high risk of screening results was similar to that for the foetuses with ultrasound soft markers (P > 0.05), but significantly lower than that for the foetuses with structural anomalies (P < 0.05). The total frequencies of variants of unknown significance in groups A and B showed no significant difference (P > 0.05). CMA should be performed for pregnant women undergoing prenatal invasive testing due to AMSS, especially with high-risk results, regardless of ultrasound findings.
摘要：
最近,染色体微阵列分析(CMA)已被实施为超声异常妊娠的一线检测.然而,仅在异常母体血清筛查（AMSS）的妊娠中应用并不广泛。这项研究评估了CMA与传统核型分析相比在妊娠早期或中期孕妇血清筛查后风险增加的妊娠中的价值。从2016年4月至2020年5月，获得了在AMSS之后转诊进行侵入性产前检测的3973例妊娠的数据。进行常规核型分析，并推荐单核苷酸多态性阵列。根据适应症将胎儿分为仅AMSS（A组）和具有超声异常的AMSS（B组）。对713个产前样本进行CMA。多年来，两组中选择CMA检测的女性比例都有所增加。具有高筛查结果风险的妊娠的临床显着发现的增量与具有超声软标记的胎儿相似（P>0.05），但显著低于有结构异常的胎儿(P<0.05)。A组和B组差异无统计学意义的变异总频率无统计学意义(P>0.05)。对于因AMSS而接受产前侵入性检测的孕妇，应进行CMA，尤其是高风险的结果，无论超声检查结果如何。
