本文選題：限制性胎盤嵌合體 + 無創(chuàng)DNA產(chǎn)前檢查　； 參考：《南昌大學(xué)》2014年碩士論文

【摘要】：目的： 對孕婦外周血游離胎兒DNA通過深度測序顯示21-三體綜合征陽性的胎兒進(jìn)行產(chǎn)前診斷，采用羊膜腔穿刺術(shù)、臍血穿刺及熒光原位雜交技術(shù)（Fluorescent in situ hybridization,FISH）對胎兒進(jìn)行核型分析，從而排除無創(chuàng)DNA檢測(Noninvasive prenatal testing, NIPT)的假陽性結(jié)果。產(chǎn)后對胎盤進(jìn)行DNA檢測，并對嬰兒進(jìn)行外周血染色體核型分析明確是否為限制性胎盤嵌合體。 方法： 采用羊膜腔穿刺術(shù)抽取胎兒羊水，通過細(xì)胞培養(yǎng)方法及熒光原位雜交技術(shù)，對胎兒細(xì)胞進(jìn)行染色體核型分析。進(jìn)一步采用臍血穿刺術(shù)進(jìn)行胎兒染色體核型分析。運(yùn)用高通量DNA技術(shù)對胎盤進(jìn)行檢測，通過細(xì)胞培養(yǎng)方法對嬰兒進(jìn)行染色體核型分析。 結(jié)果： 在320-400條帶階段G顯帶羊水細(xì)胞核型分析結(jié)果為46,XN/47,XN,+21(141/5),顯示為21-三體嵌合體核型；羊水細(xì)胞FISH結(jié)果正常。臍血穿刺胎兒染色體正常。胎盤中心位置及母胎面為正常核型和21-三體嵌合體核型，胎盤胎兒面及臍帶組織為正常核型，，為限制性胎盤嵌合體。嬰兒外周血染色體為正常核型。 結(jié)論： 1、無創(chuàng)DNA產(chǎn)前檢測存在假陽性結(jié)果； 2、無創(chuàng)DNA產(chǎn)前檢測陽性結(jié)果必須通過羊膜腔穿刺和（或）臍血穿刺進(jìn)行確診； 3、羊水染色體疑似嵌合現(xiàn)象必須通過臍血穿刺進(jìn)行確診； 4、確定為限制性胎盤嵌合體后，產(chǎn)后必須隨訪。
[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.
【學(xué)位授予單位】：南昌大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.5

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