摘要
目的::研究产前三维超声与染色体微阵列分析技术(CMA)筛查骨骼畸形异常胎儿检出情况及遗传学病因分析。方法:以2019年5月-2022年1月于本院产前诊断确诊的胎儿骨骼畸形患者20例,按照美国遗传医学会指南,为致病性拷贝数变异(CNVs)(pCNVs组)5例、良性CNVs组10例、不明性(Vous组)5例。比较3组超声异常情况、pCNVs组超声指标与CMA检查结果的相关性。结果:pCNVs组、良性CNVs组、Vous组孕妇年龄、身高、孕周以及受孕方式均无差异(P>0.05),心脏/胸腔比例增大、股骨/胸围降低等有差异(P<0.05),骨骼缺失、面部畸形等无差异(P>0.05);pCNVs组染色体缺失3例,染色体重复2例。logistics多因素分析,超声筛查诊断胎儿心脏/胸腔比例增大、股骨/胸围降低均是pCNVs、Vous的独立危险因素。结论:产前三维超声筛查诊断骨骼畸形异常胎儿与CNVs结果的相关性较强,骨骼畸形遗传学异常主要表现为1、6、15以及X染色体异常。
Objective:To study the prenatal threer dimensional ultrasound and chromosomal microarray analysis(CMA)for screening abnormal fetus with bone malformation,and to analyze the genetic etiology of these abnormal fetus.Methods:20 fetuses with confirmed bone malformation by prenatal diagnosis from May 2019 to January 2022 were in-cluded as research objects.According to the guidelines of the American Society of genetic medicine,20 fetuses with confirmed bone malformation included 5 cases with pathogenic copy number variations(CNV)in group A,10 cases with benign CNVs in group B,and 5 cases with unknown causes(Vous)of bone malformation in group C.The ultra-sonic abnormalities of the fetuses were compared among the three groups.The correlation between the results of ultra-sonic examination of the fetuses in group A and their CMA was analyzed.Results:There were no significant differences in the maternal age and height,the gestational weeks of delivery,and the mode of conception among the three groups(P>0.05).There were significant differences in rates of the increased heartchest ratio and the decreased thigh-bone-chest circumference ratio of the fetuses among the three groups(P<0.05).There were no significant differences in the rates of bone loss and facial deformity of the fetuses among the three groups(P>0.05).There were 3 fetuses with chromosome deletion and 2 fetuses with chromosome duplication in group A.Logistics multifactor analysis showed that the increased heart-chest ratio and the decreased thighbone-chest circumference of the fetuses by ultra-sound were the independent risk factors of pathogenice CNVs and unknown causes of bone malformation of the fetuses.Conclusion:Prenatal threer dimensional ultrasound screening for the diagnosing abnormal fetuses with bone malforma-tions has a strong correlation with the results of CNVs of these fetuses.The genetic abnormalities of the fetuses with bone malformations are abnormalities in 1,6,15,and X chromosome mainly.
作者
刘皓
张小燕
刘利芳
刘丽霞
丁凌
LIU Hao;ZHANG Xiaoyan;LIU Lifang;LIU Lixia;DING Ling(Hebi People's Hospital,Hebi,Henan Province,458030)
出处
《中国计划生育学杂志》
2023年第3期646-649,共4页
Chinese Journal of Family Planning
关键词
产前检查
胎儿骨骼畸形
三维超声
染色体微阵列分析技术
致病性拷贝数变异
危险因素
Prenatal examination
Bone malformation of fetus
Three dimensional ultrasound
Chromosomal microarray analysis technics
Pathogenic copy number variations
Risk factor
