家系全外显子测序在胎儿超声异常病例中的应用价值  

Application value of family whole exon sequencing in fetal ultrasound abnormalities

作　　者：胡矩锋 杜伟 HU Ju-feng;DU Wei(Department of Obstetrics,Women&Children Health Care Hospital of Linyi,Linyi 276000)

机构地区：[1]临沂市妇幼保健院产科,临沂276000

出　　处：《生殖医学杂志》2023年第6期882-889,共8页Journal of Reproductive Medicine

基　　金：临沂市科技发展计划项目(201919045)。

摘　　要：目的研究家系全外显子测序(Trio WES)在胎儿超声异常病例中的应用价值。方法选取2018年1月至2022月3月彩超提示异常的胎儿312例,包括神经系统异常65例、心脏结构异常45例、颈部透明带厚度(NT)增厚57例、肾脏异常32例、肿瘤19例、骨骼系统异常17例、多发异常11例、消化道异常8例、颜面部异常8例以及其他异常50例,全部进行了染色体微阵列分析(CMA)。在CMA检测正常的病例中,经知情告知,仅有16例再次进行了Trio WES。结果312例超声异常的胎儿中,CMA检出致病性拷贝数变异(pCNVs)40例(12.82%),临床意义不明确的CNVs(VOUS CNVs)21例(6.73%),良性CNVs(bCNVs)2例(0.64%)。在CMA检测正常的病例中,16例再次进行了Trio WES并检出阳性病例7例(43.75%)。结论在超声异常胎儿的遗传学检测方法中,对CMA检测正常的的病例,特别是骨骼系统和神经系统异常,再次进行Trio WES可以明显提高检出率,便于制定进一步的妊娠处理方案,具有明显的临床实用价值。Objective:To explore the value of family whole exon sequencing(Trio WES)in fetal ultrasound abnormalities.Methods:A total of 312 fetuses with abnormal ultrasound findings,including 65 cases of nervous system abnormalities,45 cases of heart structure abnormalities,57 cases of nuchal translucency thickening(NT),32 cases of renal abnormalities,19 cases of tumors,17 cases of skeletal system abnormalities,11 cases of multiple anomalies,8 cases of gastrointestinal tract abnormalities,8 cases of facial abnormalities,and 50 cases of other abnormalities,from January 2018 to March 2022 were enrolled into our study.All of them underwent chromosomal microarray analysis(CMA).Among the cases with normal CMA testing,only 16 cases were informed to undergo Trio WES again.Results:Among 312 fetuses with ultrasound abnormalities,CMA detected pathogenic copy number variations(pCNVs)in 40 cases(12.82%),clinically ambiguous CNVs(VOUS CNVs)in 21 cases(6.73%),and benign CNVs(bCNVs)in 2 cases(0.64%).Among the cases with normal CMA testing,16 cases underwent Trio WES again and 7 positive cases were detected(43.75%).Conclusions:In the genetic detection methods of fetal ultrasound abnormalities,for cases with normal CMA detection,especially skeletal and nervous system abnormalities,performing Trio WES again can significantly improve the detection rate,facilitate the development of further pregnancy management plan,and have significant clinical practical value.

关 键 词：家系全外显子测序 染色体微阵列分析 拷贝数变异 超声 

分 类 号：R714.5[医药卫生—妇产科学]