超声异常胎儿的染色体微阵列分析
Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.
作者信息
Chen Xiaoqin, Lan Liubing, Wu Heming, Zeng Mei, Zheng Zhiyuan, Zhong Qiuping, Lai Fengdan, Hu Yonghe
机构信息
Department of Prenatal Diagnostic Center, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.
Department of Obstetrics, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.
出版信息
Int J Gen Med. 2024 Aug 15;17:3531-3540. doi: 10.2147/IJGM.S472906. eCollection 2024.
OBJECTIVE
To explore and evaluate the value of chromosomal microarray analysis (CMA) in prenatal diagnosis of fetuses with ultrasound abnormalities.
METHODS
A retrospective analysis was performed on 370 fetuses with ultrasound abnormalities received invasive prenatal diagnosis at Meizhou People's Hospital from October 2022 to December 2023. Fetal specimens were analyzed by CMA, and the detection rates of aneuploidy and pathogenic (P)/likely pathogenic (LP) copy number variations (CNVs) in ultrasound structural abnormalities (malformations of fetal anatomy) and non-structural abnormalities (abnormalities of fetal nonanatomical structure) were analyzed.
RESULTS
There were 114 (30.8%) cases with isolated ultrasound structural abnormalities, 226 (61.1%) cases with isolated non-structural abnormalities (182 isolated ultrasound soft markers abnormalities, 30 isolated fetal growth restriction (FGR), and 8 isolated abnormalities of amniotic fluid volume), and 30 (8.1%) cases with both structural and non-structural abnormalities. The overall detection rate of aneuploidy and P/LP CNVs in isolated ultrasonic structural abnormalities was 5.3%, among which cardiovascular system abnormalities were the highest. In addition, the largest number of fetuses with non-structural abnormalities was nuchal translucency (NT) thickening (n = 81), followed by ventriculomegaly (n = 29), and nasal bone dysplasia (n = 24). The detection rate of chromosomal abnormalities of fetuses with abnormal ultrasound soft markers was 9.9%, and the detection rate in single abnormal ultrasound soft marker, and multiple ultrasound soft markers abnormalities was 9.7% (16/165) and 11.8% (2/17), respectively. Moreover, the detection rate of chromosomal abnormalities of fetuses with FGR and structural abnormalities combined with non-structural abnormalities was 6.7% (2/30), and 13.3% (4/30), respectively.
CONCLUSION
The incidence of chromosomal abnormalities (aneuploidy and P/LP CNVs) varies among different fetal ultrasound abnormalities.
目的
探讨和评估染色体微阵列分析（CMA）在产前诊断超声异常胎儿中的价值。
方法
回顾性分析2022年10月至2023年12月在梅州市人民医院接受侵入性产前诊断的370例超声异常胎儿。采用CMA分析胎儿标本，分析超声结构异常（胎儿解剖结构畸形）和非结构异常（胎儿非解剖结构异常）中染色体非整倍体及致病性（P）/可能致病性（LP）拷贝数变异（CNV）的检出率。
结果
单纯超声结构异常114例（30.8%），单纯非结构异常226例（61.1%）（孤立性超声软指标异常182例、孤立性胎儿生长受限（FGR）30例、孤立性羊水量异常8例），结构和非结构异常并存30例（8.1%）。孤立性超声结构异常中染色体非整倍体及P/LP CNV的总体检出率为5.3%，其中心血管系统异常检出率最高。此外，非结构异常胎儿中数量最多的是颈项透明层（NT）增厚（n = 81），其次是脑室扩大（n = 29）和鼻骨发育不良（n = 24）。超声软指标异常胎儿染色体异常检出率为9.9%，单一超声软指标异常和多个超声软指标异常胎儿的检出率分别为9.7%（16/165）和11.8%（2/17）。此外，FGR胎儿及结构异常合并非结构异常胎儿的染色体异常检出率分别为6.7%（2/30）和13.3%（4/30）。
结论
不同胎儿超声异常中染色体异常（非整倍体及P/LP CNV）的发生率有所不同。
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