应用多种遗传学技术检测衍生染色体在产前诊断中的探讨与遗传咨询  

A variety of genetic techniques are used to detect derived chromosomes discussion and genetic counseling in prenatal diagnosis

作　　者：马晓蓉 苏比努尔·买买提 郭晓利 王丽霞 薛淑媛 MA Xiaorong;SUBINUER Maimaiti;GUO Xiaoli;WANG Lixia;XUE Shuyuan(Prenatal Diagnosis Center,Urumqi Maternal and Child Health Hospital,Urumqi,Xinjiang 830001,China;Xinjiang Clinical Research Center for Perinatal Diseases,Urumqi,Xinjiang 830001,China)

机构地区：[1]乌鲁木齐市妇幼保健院产前诊断中心,新疆乌鲁木齐830001 [2]新疆围产期疾病临床医学研究中心,新疆乌鲁木齐830001

出　　处：《中国优生与遗传杂志》2024年第12期2538-2545,共8页Chinese Journal of Birth Health & Heredity

基　　金：新疆维吾尔自治区自然科学基金(2023D01F22);新疆维吾尔自治区科技创新团队(天山创新团队)(2022TSYCTD0016)。

摘　　要：目的通过染色体G显带核型分析技术和分子遗传学检测技术对产前诊断中衍生染色体的发生频率以及遗传方式进行分析。方法对乌鲁木齐市妇幼保健院产前诊断中心7663例孕妇羊水进行染色体G显带核型分析,将发现的衍生染色体进一步开展染色体微阵列分析(CMA),并对胎儿父母行夫妻外周血染色体检查,必要时行荧光原位杂交技术(FISH)验证。结果在分析的7663例羊水病例中,发现21例衍生染色体,检出率为0.27%,其中14例(66.67%)经父母核型分析检测均由亲代遗传产生的不平衡配子所得,3例(14.29%)为新发突变,4例(19.05%)父母未做验证。结论联合应用染色体核型分析技术、CMA以及FISH技术检测胎儿衍生染色体,明确其结构与来源,为遗传咨询提供有力证据,为再次妊娠及产前诊断提供科学指导。Objective The frequency and inheritance mode of derivative chromosomes in prenatal diagnosis were analyzed by chromosome G band karyotyping technology and molecular genetic detection technology.Methods The chromosomal G-band karyotype analysis was performed on the amniotic fluid of 7663 pregnant women in the Prenatal Diagnosis Center of Urumqi Maternal and Child Health Hospital,the chromosomal microarray analysis(CMA)of the derived chromosomes was carried out,the fetal parents were subjected to chromosome examination of the peripheral blood of the couple,and fluorescence in situ hybridization(FISH)was performed if necessary.Results Among the 7663 amniotic fluid cases analyzed,21 cases were found to have chromosomes derived from them,with a detection rate of 0.27%,of which 14 cases(66.67%)were obtained by parental karyotype analysis and detected by unbalanced gametes produced by parental inheritance;3 cases(14.29%)were de novo mutations;4 cases(19.05%)were not verified by parents.Conclusion The combination of chromosome karyotype analysis,CMA and FISH technology was used to detect fetal derived chromosomes,clarify their structure and origin,provide strong evidence for genetic counseling,and provide scientific guidance for re-pregnancy and prenatal diagnosis.

关 键 词：衍生染色体 G显带核型分析 染色体微阵列分析 不平衡配子 

分 类 号：R714.5[医药卫生—妇产科学]