摘要
目的:分析先天性骨骼畸形胎儿的超声诊断率及遗传学分析。方法:回顾性纳入2020年6月-2022年6月于本院确诊的胎儿先天性骨骼畸形的92例孕妇临床资料,结合后续诊疗资料对超声诊断结果进行分类分析;孕妇行染色体微阵列分析技术(CMA)分析并根据结果分为致病性(pCNVs)、良性CNVs和临床意义不明性(Vous)3种类型,展开遗传学诊断。结果:产前超声诊断总正确率为95.7%(88/92),与最终诊疗结果无统计学差异(P>0.05);92例孕妇均存在不同程度的CNVs,CNVs(3.28±1.15)个,CNVs片段大小(3.78±1.47)Mb,其中19例为pCNVs类型、59例为良性CNVs类型、14例为Vous类型;3种CNVs类型孕妇基本资料无差异(P>0.05);pCNVs及Vous类型孕妇心/胸比增大(63.2%、71.4%)及股骨长/腹围减少(84.2%、57.1%)发生率均高于良性CNVs类型孕妇(22.0%、25.4%)(均P<0.05);经logistic回归分析,心/胸比增大及股骨长/腹围减少是发生pCNVs的独立危险因素(P<0.05)。结论:产前超声检查诊断胎儿先天性骨骼畸形具有准确度高、安全有效的特点,且与CMA诊断结果的符合性较好。
Objective:To analyze the diagnostic rate of fetuses with congenital skeletal malformation by ultrasound,and to study the genetics of these fetuses.Methods:The clinical data of 92 pregnant women with fetal congenital skeletal malformations diagnosed in hospital from June 2020 to June 2022 were included as the study subjects retrospectively.The ultrasonic diagnosis results combined with the subsequent diagnosis and treatment data were used to classification analysis.The chromosomal microarray analysis(CMA)was performed on these pregnant women with confirmed con-genital skeletal malformation of fetuses.According to the CMA results,these women were divided into three types,in-cluding pathogenic(pCNVs),benign CNVs and clinically unknown CNVs(Vous).And the genetic analysis of these women was carried out.Results:The total accuracy of the prenatal ultrasound diagnosis for the congenital skeletal malformation of the fetuses was 95.7%(88/92),which had no statistically significant different from that of the final diagnosis and treatment results of the newborns(P>>0.05).92 pregnant women had the varying degrees CNVs,and the average number of CNVs was 3.28±1.15 and the average CNVs fragment size was 3.78±1.47 Mb,which including 19 women with pCNVs,59 women with benign CNVs and 14 women with Vous.There were no significant difference in the basic data among the women with pCNVs,the women with benign CNVs and the women with Vous(P>0.05).The incidences of the increased heart/chest ratio and the decreased of the femoral length/abdominal circumference rati-o(63.2%and 84.2%)of the women with pCNVs and those(71.4%and 57.1%)of the women with Vous were signifi-cantly higher than those(22.0%and 25.4%)of the women with benign CNVs(all P<0.05).Logistic regression anal-ysis suggests that the increased heart/chest ratio and the decreased of the femoral length/abdominal circumference ra-tio of the women were the independent influencing factors of the occurrence of their pCNVs.Conclusion:The prenatal ultrasound used for dignosing the fetal
作者
胡李琪
袁洪亮
HU Liqil;YUAN Hongliang(Tongcheng People's Hospital,Hubei Province,437000;Union Hospital affiliated to Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei Province)
出处
《中国计划生育学杂志》
2024年第2期382-385,共4页
Chinese Journal of Family Planning
关键词
先天性骨骼畸形
超声
遗传学
分型
Congenital skeletal malformation
Ultrasound
genetics
Typing
