Qu Suzhen, Shi Panlai, Zhang Tianyuan, Gao Zhi, Guan Hongying, Kong Xiangdong
Department of Obstetrics and Gynecology, Xinyang Central Hospital, Xinyang, Henan 464000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):366-369. doi: 10.3760/cma.j.cn511374-20200801-00572.
To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations.
Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs).
The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis.
For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling.
评估拷贝数变异测序（CNV-seq）和核型分析在平衡易位携带者产前诊断中的价值。
分析135例同时接受CNV-seq和核型分析的平衡易位携带者羊水穿刺样本的临床记录。染色体畸变定义为肯定会导致出生缺陷的情况，包括染色体数目异常、大片段缺失/重复和致病性拷贝数变异（pCNV）。
核型分析和CNV-seq的检出率分别为4.44%（6/135）和5.93%（8/135），后者比前者高1.48%（2/135）。通过核型分析共检测到68例胎儿染色体易位。
对于携带平衡易位的夫妇，同时进行CNV-seq和核型分析有利于检测胎儿染色体异常并进行遗传咨询。
