Shi Panlai, Hou Yaqin, Chen Duo, Liu Ning, Jiao Zhihui, Feng Yin, Sun Gege, Zhu Ruonan, Kong Xiangdong
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1076-1079. doi: 10.3760/cma.j.cn511374-20210821-00685.
To assess the diagnostic value of copy number variation sequencing (CNV-seq) in the genetic etiology of fetuses with nasal bone dysplasia (NBD).
A total of 217 fetuses discovered with NBD from December 2017 to December 2020 were divided into the isolated NBD group and NBD combined with other anomalies group, for which copy number variations (CNVs) were analyzed.
A total of 40 fetal abnormalities were detected in 217 cases, with an overall abnormal rate of 18.4%. These included 31 cases with aneuploidies (14.3%, 31/217) and 9 cases with genomic CNVs (4.1%, 9/217). Five cases of trisomy 21 (3.5%, 5/144) and two CNVs cases with unknown clinical significance (1.4%, 2/144) were detected in the isolated group. As for the combined NBD group, 26 aneuploidies (35.6%, 26/73), including 19 cases with trisomy 21, 6 cases with trisomy 18, 1 case with trisomy 13, 5 cases with pathogenic CNVs (6.8%, 5/73), and 2 cases with CNVs of unknown clinical significance (2.7%, 2/73) were detected. A significant difference was detected between the two groups (P < 0.01).
The detection rate of CNV-seq is high for chromosomal aneuploidies and pathogenic CNVs in fetuses with NBD, particularly in those combined with other ultrasonic abnormalities.
评估拷贝数变异测序（CNV-seq）在鼻骨发育不良（NBD）胎儿遗传病因诊断中的价值。
将2017年12月至2020年12月期间发现的217例NBD胎儿分为单纯NBD组和NBD合并其他异常组，分析其拷贝数变异（CNV）情况。
217例中共检测到40例胎儿异常，总体异常率为18.4%。其中包括31例非整倍体（14.3%，31/217）和9例基因组CNV（4.1%，9/217）。单纯组检测到5例21三体（3.5%，5/144）和2例临床意义不明的CNV（1.4%，2/144）。合并NBD组检测到26例非整倍体（35.6%，26/73），其中19例21三体、6例18三体、1例13三体，5例致病性CNV（6.8%，5/73），2例临床意义不明的CNV（2.7%，2/73）。两组间差异有统计学意义（P<0.01）。
CNV-seq对NBD胎儿染色体非整倍体和致病性CNV的检测率较高，尤其是合并其他超声异常的胎儿。
