Objective:To explore the etiological genetics diagnosis of fetuses with craniofacial malformations(CFMs)using chromosomal microarray analysis(CMA).Methods:Enrolled in this study were 72 pregnancies with fetal CFMs who came to Quanzhou Women's and Children's Hospial for etiology diagnosis from January 2017 to March 2023.Among them,46 cases had the isolated CFMs and 26 cases also had other structural anomalies.In addition,45 cases performed amniocentesis and carried out karyotype analysis and CMA,and the rest 27 cases only conducted CMA using fetal abortive tissue.Results:In the 45 cases that performed karyotype analysis,a trisomy 18 and a 47,XXY were diagnosed,with an abnormal detection rate of 4.44％(2/45).In the total 72 enrolled subjects that conducted CMA,4 cases of aneuploid,3 cases of pathogenic copy number variants(pCNVs),and 11 cases of variants of unknown significance were diagnosed,with an abnormal detection rate of 9.72％(7/72).In addition,the sub-group study indicated that the abnormal detection rate in the non-isolated CFMs group was significantly higher than that in the isolated CFMs group(26.92％vs.0.00％,P＜0.001).Conclusions:For those fetuses with CFMs indicated by prenatal ultrasound,the subsequent CMA would be helpful to clarify the genetic etiology of CFMs.
关键词
颅面畸形/染色体微阵列分析/核型分析/病因诊断/DNA拷贝数变异
Key words
Craniofacial malformations/Chromosomal microarray analysis/Karyotyping/Etiological diagnosis/DNA copy number variations
维普
万方数据