Yu Qiu-Xia, Li Yan-Lin, Zhang Yong-Ling, Lin Xiao-Mei, Zhen Li, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, China.
Prenat Diagn. 2022 Dec;42(13):1622-1626. doi: 10.1002/pd.6259. Epub 2022 Nov 7.
To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot.
Clinical data from singleton pregnancies with a sonographic diagnosis of isolated clubfoot and ES results between 2018 and 2021 were retrospectively obtained from a single referral medical center. The recorded data include maternal age, gestational age at sonographic diagnosis, the indication for genetic testing, ES results, and pregnancy outcomes.
During the study period, 38 fetuses were prenatally diagnosed with isolated clubfoot by ultrasound and underwent ES after the copy number variant analysis was non-diagnostic. Through the trio-ES analysis, pathogenic or likely pathogenic variants were detected in 4 of 38 (10.5%) with the following genes: BRPF1, ANKRD17, FLNA, and KIF1A. All are de novo with three of autosomal dominant inheritance and one of X-linked recessive inheritance.
Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies.
研究外显子组测序（ES）在单胎妊娠孤立性胎儿马蹄内翻足中的诊断价值。
回顾性收集2018年至2021年间在单一转诊医疗中心进行超声诊断为孤立性马蹄内翻足的单胎妊娠临床资料及ES结果。记录的数据包括产妇年龄、超声诊断时的孕周、基因检测指征、ES结果和妊娠结局。
在研究期间，38例胎儿经超声产前诊断为孤立性马蹄内翻足，在拷贝数变异分析无诊断结果后接受了ES检测。通过三联体ES分析，在38例中的4例（10.5%）检测到致病或可能致病的变异，涉及以下基因：BRPF1、ANKRD17、FLNA和KIF1A。所有变异均为新发，其中3例为常染色体显性遗传，1例为X连锁隐性遗传。
超声诊断马蹄内翻足，即使是孤立性的，也会增加单基因综合征的风险。外显子组测序应作为此类妊娠基因调查的一种选择。
