限制性胎盘嵌合体分析

发布时间：2018-06-23 22:11

本文选题：限制性胎盘嵌合体 + 无创DNA产前检查　；参考：《南昌大学》2014年硕士论文

【摘要】：目的：对孕妇外周血游离胎儿DNA通过深度测序显示21-三体综合征阳性的胎儿进行产前诊断，采用羊膜腔穿刺术、脐血穿刺及荧光原位杂交技术（Fluorescent in situ hybridization,FISH）对胎儿进行核型分析，从而排除无创DNA检测(Noninvasive prenatal testing, NIPT)的假阳性结果。产后对胎盘进行DNA检测，并对婴儿进行外周血染色体核型分析明确是否为限制性胎盘嵌合体。方法：采用羊膜腔穿刺术抽取胎儿羊水，通过细胞培养方法及荧光原位杂交技术，对胎儿细胞进行染色体核型分析。进一步采用脐血穿刺术进行胎儿染色体核型分析。运用高通量DNA技术对胎盘进行检测，通过细胞培养方法对婴儿进行染色体核型分析。结果：在320-400条带阶段G显带羊水细胞核型分析结果为46,XN/47,XN,+21(141/5),显示为21-三体嵌合体核型；羊水细胞FISH结果正常。脐血穿刺胎儿染色体正常。胎盘中心位置及母胎面为正常核型和21-三体嵌合体核型，胎盘胎儿面及脐带组织为正常核型，，为限制性胎盘嵌合体。婴儿外周血染色体为正常核型。结论： 1、无创DNA产前检测存在假阳性结果； 2、无创DNA产前检测阳性结果必须通过羊膜腔穿刺和（或）脐血穿刺进行确诊； 3、羊水染色体疑似嵌合现象必须通过脐血穿刺进行确诊； 4、确定为限制性胎盘嵌合体后，产后必须随访。
[Abstract]:Objective: to study the prenatal diagnosis of fetuses with 21 trisomy syndrome positive in maternal peripheral blood free fetal DNA by deep sequencing and amniocentesis. Umbilical cord blood puncture and fluorescence in situ hybridization (fish) were used to analyze the karyotype of fetus, so as to exclude the false positive results of noninvasive prenatal testing (NIPT). After delivery, the placenta was detected by DNA, and the chromosome karyotype of peripheral blood was analyzed to determine whether it was a restricted placental chimera. Methods: fetal amniotic fluid was extracted by amniocentesis and chromosome karyotype was analyzed by cell culture and fluorescence in situ hybridization. Furthermore, umbilical cord blood puncture was used to analyze the karyotype of fetal chromosomes. High throughput DNA technique was used to detect placenta and chromosome karyotype was analyzed by cell culture method. Results: the karyotype analysis of G-banded amniotic fluid in 320-400 bands showed that the karyotype of G-banded amniotic fluid was 46% XN / 47 XN, 21 (141 / 5), showing a 21-trisomy chimera karyotype, and the fish result of amniotic fluid cells was normal. Umbilical cord blood puncture fetal chromosomes were normal. The placental central position and maternal foetus were normal karyotype and 21-trisomy chimera karyotype, placental fetal surface and umbilical cord tissue were normal karyotype, it was restricted placental chimera. The chromosomes in infant peripheral blood were normal karyotype. Conclusion: 1, there are false positive results in non-invasive DNA prenatal testing, 2, the positive results of non-invasive DNA prenatal testing must be confirmed by amniocentesis and / or umbilical cord blood puncture. 3, the suspected chimerism of amniotic fluid chromosomes must be diagnosed by umbilical cord blood puncture, and 4, after confirmed as restricted placental chimerism, postpartum follow-up must be carried out.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R714.5

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