期刊论文详细信息
Journal of Translational Medicine
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Ruiguo Chen1  Chaoshi Liu1  Xiujuan Zhang1  Jianguang Zhang1  Yuezhen Li1  Jieping Song2  Juntao Liu3  Yulin Jiang4  Qingwei Qi4  Guoqiang Sun5  Longxian Cheng6  Chen Cheng7  Xinlin Chen7  Weiyun Wang7  Sheng Zhao7  Hui Huang7 
[1] Berry Genomics Corporation, 102200, Beijing, China;Department of Genetic Laboratory, Maternal and Child Health Hospital of Hubei Province, 430070, Wuhan, Hubei, China;Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1, Shuaifu Garden, Dongcheng District, 100730, Beijing, China;Department of Obstetrics and Gynecology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China;Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, 430070, Wuhan, Hubei, China;Department of Ultrasound Diagnosis, Hubei Maternity and Child Health Hospital, No. 745, Wuluo Road, Hongshan District, 430030, Wuhan, Hubei, China;Department of Ultrasound Diagnosis, Maternal and Child Health Hospital of Hubei Province, 430070, Wuhan, Hubei, China;
关键词: Whole-exome sequencing;    Prenatal diagnosis;    CNV-seq;    Structural anomaly;   
DOI  :  10.1186/s12967-021-03202-9
来源: Springer
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【 摘 要 】

BackgroundBirth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort.MethodsIn this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports.ResultsIn total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P  = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P  = 0.0130).ConclusionsSimultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes.

【 授权许可】

CC BY   

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