Center of Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China (mainland).
Med Sci Monit. 2021 Apr 10;27:e929074. doi: 10.12659/MSM.929074.
BACKGROUND In pregnant women with advanced maternal age (AMA) and fetuses with ultrasonographic (USG) soft markers it is always challenging to decide whether to implement chromosomal microarray analysis (CMA) or not. It is unclear whether CMA should be used in the fetuses with isolated USG soft markers, and there is still a lack of extensive sample research. MATERIAL AND METHODS We enrolled 1521 cases in our research and divided them into 3 groups as follows: pregnant women with isolated AMA (group 1, n=633), pregnant women whose fetuses had isolated USG soft markers (group 2, n=750), and pregnant women with AMA whose fetuses had isolated USG soft markers (group 3, n=138). All pregnant women underwent prenatal ultrasound and amniocentesis, and fetal cells in the amniotic fluid were used for genetic analysis of CMA. All participants signed a written informed consent prior to CMA. RESULTS Abnormal findings were detected by CMA in 330 (21.70%) fetuses, including 37 (2.43%) clinically significant copy number variations (CNVs), 52 (3.42%) benign or likely benign CNVs, and 240 (15.78%) variants of unknown significance. The frequency of clinically significant CNVs in group 1 and group 2 were significantly lower than that in group 3 (2.37% and 2.0% vs 5.07%, P<0.01). More than a half (59.46%, 22/37) of the pregnant women decided to continue their pregnancy despite having a fetus diagnosed with clinically significant CNV. CONCLUSIONS CMA can increase the diagnostic yield of fetal chromosomal abnormality for pregnant women with isolated AMA or/and their fetuses had isolated USG soft markers.
对于高龄产妇（AMA）和超声软指标异常的胎儿，是否行染色体微阵列分析（CMA）一直存在争议。目前对于孤立性超声软指标胎儿是否应行 CMA 检查仍不明确，且缺乏大规模样本研究。
我们的研究共纳入 1521 例患者，分为 3 组：单纯 AMA 孕妇组（1 组，n=633）、单纯超声软指标异常胎儿孕妇组（2 组，n=750）、AMA 合并超声软指标异常胎儿孕妇组（3 组，n=138）。所有孕妇均行产前超声检查及羊膜腔穿刺术，抽取羊水进行 CMA 遗传分析。所有患者均签署 CMA 知情同意书。
CMA 检测发现 330 例（21.70%）胎儿异常，包括 37 例（2.43%）临床意义明确的拷贝数变异（CNV）、52 例（3.42%）良性或可能良性 CNV 和 240 例（15.78%）意义不明的变异。1 组和 2 组临床意义明确 CNV 的发生率明显低于 3 组（2.37%和 2.0% vs 5.07%，P<0.01）。尽管胎儿诊断为临床意义明确的 CNV，仍有超过一半（59.46%，22/37）的孕妇决定继续妊娠。
CMA 可提高单纯 AMA 或/和孤立性超声软指标胎儿孕妇胎儿染色体异常的检出率。
