摘要
目的探讨胎儿染色体结构异常核型发生的类型、频率及遗传率,分析其产前诊断指征及妊娠结局,为优生优育提供科学依据。方法对8600例具有产前诊断指征的孕妇,行介入性产前诊断,羊水或脐血细胞培养,染色体核型分析,诊断结果为胎儿染色体结构异常的,胎儿父母行外周血染色体核型分析。结果胎儿染色体结构异常共97例,包含平衡易位30例,倒位24例,衍生11例,罗伯逊易位11例,缺失9例,标记染色体7例,未知来源附加片段3例,插入2例。97例病例中,遗传性结构异常64例,新发结构异常33例。其主要产前诊断指征唐氏筛查高风险、胎儿超声异常、高龄及夫妻染色体异常携带。将97例病例分成遗传组和新发组,将两组的染色体异常类型分布进行比较,P<0.05,差异有统计学意义;97例病例按照性别分为男女两组,染色体异常类型分布相比,P>0.05,差异无统计学意义。结论胎儿染色体结构异常类型多种多样,导致胎儿畸形的风险与其密切相关,遗传咨询过程中应该结合超声检查、染色体微阵列序列分析或者高通量全基因组拷贝数变异检测等的结果综合分析,给予妊娠指导。
Objective:To explore the type,frequency and heritability of abnormal karyotypes in fetal chromosome structure,analyze the indications of prenatal diagnosis and pregnancy outcome,and provide scientific basis for prenatal and postnatal care.Methods:For 8600 pregnant women with prenatal diagnosis indications,interventional prenatal diagnosis,amniotic fluid or cord blood cell culture,karyotype analysis,diagnosis of abnormal fetal chromosome structure,fetal karyotype analysis of peripheral blood.Results:There were 97 cases of abnormal fetal chromosome structure,including 30 cases of balanced translocation,24 cases of inversion,11 cases of degeneration,11 cases of Robertsonian translocation,9 cases of deletion,7 cases of marker chromosome,3 cases of unknown source,and 2 cases of insertion.Among the 97 cases,there were 64 cases of hereditary structural abnormalities and 33 cases of new structural abnormalities.Its main prenatal diagnosis indications are Down′s screening for high risk,fetal ultrasound abnormalities,advanced age and chromosomal abnormalities in couples.97 cases were divided into two groups:the genetic group and the new group.The chromosomal abnormality distributions of the two groups were compared,P<0.05,the difference was statistically significant.According to gender,the male and female groups were divided into two groups.Compared with the distribution of chromosomal abnormalities,P>0.05,the difference was not statistically significant.Conclusion:There are many types of fetal chromosome structural abnormalities,which are closely related to the risk of fetal malformation.The genetic counseling process should be combined with the results of ultrasound examination,chromosome microarray sequence analysis or genome-wide copy number variation detection to give pregnancy guidance.
作者
罗小芳
黄柳萍
吴海燕
赵卓姝
LUO Xiao-fang;HUANG Liu-ping;WU Hai-yan;ZHAO Zhuo-shu(Prenatal Diagnosis Center of Shunde Women and Children Hospital,Guangdong Medical University Guangdong,Foshan 528300,China)
出处
《中国优生与遗传杂志》
2020年第3期311-313,372,共4页
Chinese Journal of Birth Health & Heredity
关键词
染色体核型结构异常
介入性产前诊断
染色体微阵列序列分析
高通量全基因组拷贝数变异检测
abnormal karyotypic structure
interventional prenatal diagnosis
chromosome microarray sequence analysis
high-throughput whole-genome copy number variation detection
