Jin Keqin, Xu Xiayuan, Qian Yue, Zhang Liping, Hu Min, Luo Jianfeng
Genetic Laboratory, Jinhua Maternal & Child Health Care Hospital, Jinhua, Zhejiang, China.
Jinhua Key Laboratory for Comprehensive Prevention and Control of Birth Defects, Jinhua Maternal & Child Health Care Hospital, Jinhua, Zhejiang, China.
PLoS One. 2025 May 22;20(5):e0324734. doi: 10.1371/journal.pone.0324734. eCollection 2025.
To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
Retrospectively collected the prenatal diagnostic data of 83 fetuses with hydronephrosis from January 2020 to July 2024. The positive rate of chromosomal abnormalities detected by different ultrasound abnormalities was statistically analyzed.
Among the 83 pregnant women, 10 cases of abnormal karyotypes were detected by invasive prenatal diagnosis, with an abnormality rate of 12.05%. Numerical chromosomal abnormalities accounted for 90%, mainly trisomy 21 and 13. In the fetuses with normal karyotype/no abnormality, CMA additionally detected 15 copy number variations (CNVs) in 12 cases. Divided into isolated hydronephrosis and non-isolated hydronephrosis groups, the detection rates of fetuses carrying pathogenic CNVs were 5.56% and 12.77% respectively, and the detection rates of fetuses carrying variants of uncertain significance (VUS) were 19.44% and 8.51% respectively. Still, the differences between the two groups were not statistically significant (P > 0.05). Divided into moderate to severe hydronephrosis group and mild hydronephrosis group, the detection rate of pathogenic abnormalities by CMA was 10% and 37.21% respectively, and the difference between the two groups was statistically significant (P < 0.05).
Hydronephrosis is associated with chromosomal abnormalities, and the rate of chromosomal abnormalities increases significantly as the degree of hydronephrosis increases. The combined use of CMA technology can detect abnormalities caused by chromosomal microdeletions and/or microduplications, which is of great value for clinical prenatal consultation.
探讨染色体微阵列分析（CMA）等技术在胎儿肾盂积水和肾盂扩张中的应用价值。
回顾性收集2020年1月至2024年7月83例胎儿肾盂积水的产前诊断资料。对不同超声异常所检测出的染色体异常阳性率进行统计学分析。
83例孕妇中，经侵入性产前诊断检测出10例核型异常，异常率为12.05%。染色体数目异常占90%，主要为21三体和13三体。在核型正常/无异常的胎儿中，CMA额外检测出12例中的15个拷贝数变异（CNV）。分为单纯肾盂积水组和非单纯肾盂积水组，携带致病性CNV的胎儿检出率分别为5.56%和12.77%，携带意义未明变异（VUS）的胎儿检出率分别为19.44%和8.51%。两组之间差异仍无统计学意义（P＞0.05）。分为中重度肾盂积水组和轻度肾盂积水组，CMA检测致病性异常的检出率分别为10%和37.21%，两组之间差异有统计学意义（P＜0.05）。
肾盂积水与染色体异常有关，且随着肾盂积水程度的增加，染色体异常率显著升高。联合应用CMA技术可检测出由染色体微缺失和/或微重复引起的异常，对临床产前咨询具有重要价值。
