本文選題：早孕期　切入點(diǎn)：無創(chuàng)產(chǎn)前檢測　出處：《北京協(xié)和醫(yī)學(xué)院》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：目的 采用前瞻性雙盲研究方法評估早孕期無創(chuàng)產(chǎn)前檢測(noninvasive prenatal t esting, NIPT)對胎兒性染色體非整倍體、21三體(trisomy21, T21)、18三體(trisomy18, T18)、13三體(trisomy13, T13)的篩查效率,及其臨床可行性。 方法 采用前瞻性雙盲研究方法,于2012年5月15日-2013年8月31日在北京協(xié)和醫(yī)院收集孕8-13周高齡單胎妊娠孕婦的外周血,以12-plex高通量Hiseq2000平臺進(jìn)行檢測；同時(shí)建議行侵入性產(chǎn)前診斷,首選絨毛活檢(chorionic villus sampl ing, CVS)。胎兒染色體核型分析結(jié)果為診斷金標(biāo)準(zhǔn)。通過病歷記錄或電話隨訪拒絕產(chǎn)期診斷孕婦的妊娠結(jié)局。 結(jié)果 1.共收集215份樣本,其中34例拒絕侵入性產(chǎn)前診斷(15.8%),1例因溶血NIPT檢測失敗(0.5%),有效樣本數(shù)180份,失訪率為6%(13/215)。 2.孕婦外周血采樣孕周分布于8-13周,平均9.67±1.214周；高齡孕婦預(yù)產(chǎn)期年齡35-45歲,平均37.33±2.19歲。 3.180例有效樣本中染色體核型分析結(jié)果陽性7例,包括2例T21,1例T18,1例T13,其他染色體異常3例,陽性率7/180(3.9%)；NIPT檢測結(jié)果陽性5例,包括4例與染色體核型分析結(jié)果一致的T21、T18、T13,及1例45,XO,陽性率5/180(2.8%)。 4. NIPT檢測的假陽性率1/180(0.6%)。對T21、T18、T13的檢測靈敏度、特異度、陽性預(yù)測值、陰性預(yù)測值均為100%。其他染色體異常情況較復(fù)雜,NIPT結(jié)果均陰性。 5.103份男性樣本的cffDNA含量個(gè)體差異大。其中2例絨毛穿刺后當(dāng)日采樣病例的cffDNA含量為27.13%、20.61%明顯升高,余101JcffDNA含量分布于2.69%-19.57%,中位數(shù)為8.58%,平均含量為9.18%±3.85%。cffDNA含量與體重負(fù)相關(guān),與孕周無顯著性相關(guān)。 結(jié)論 早孕期NIPT檢測對T21、T18、T13的篩查效率高,具有臨床可行性。孕早期情況復(fù)雜樣本NIPT無法檢出,如：胚胎停育,染色體嵌合體。
[Abstract]:Purpose. A prospective double-blind study was used to evaluate the screening efficiency and clinical feasibility of noninvasive prenatal testing in early pregnancy for trisomy21 trisomy21, trisomy18 trisomy18, T18 trisomy13. Method. A prospective double-blind study was used to collect the peripheral blood of 8-13-week-old single pregnancy pregnant women from May 15th 2012 to August 31st 2013 in Beijing Union Hospital. The peripheral blood samples were detected by 12-plex high-throughput Hiseq2000 platform, and invasive prenatal diagnosis was recommended. The first choice was chorionic villus sampl. Fetal chromosome karyotype analysis was the diagnostic gold standard. The pregnancy outcome of pregnant women was refused to be diagnosed by medical records or telephone follow-up. Results. 1. A total of 215 samples were collected, including 34 cases of non-invasive prenatal diagnosis (15.8%) and 1 case of hemolytic NIPT failure (0.5%). The effective sample number was 180, and the missing rate was 613% (215%). 2.Peripheral blood samples were collected from 8 to 13 weeks in pregnant women with an average of 9.67 鹵1.214 weeks, and the mean gestational age of aged pregnant women was 37.33 鹵2.19 years old (35-45 years). 3. Among the 180 effective samples, 7 were positive in karyotype analysis, including 2 cases with T21, 1 with T18N, 1 with T13, 3 with other chromosomal abnormalities. The positive rate was 7 / 180 / 3.9. the positive results of NIPT were positive in 5 cases. The positive rate was 5 / 180 / 2. 8%, including 4 cases of T21, T18, T13, and 1 of 45, XO, which were consistent with the results of karyotype analysis. 4. The false positive rate of NIPT was 1 / 180 / 0.60.The sensitivity, specificity, positive predictive value and negative predictive value of T21T _ (18) T _ (13) were 100. All the other chromosomal abnormalities were negative. 5.103 male samples showed significant individual differences in cffDNA content. The cffDNA content of 2 samples on the same day after choriocentesis was 27.13% and 20.61%. The remaining 101 Jcff DNA content was distributed between 2.69 and 19.57 and the median was 8.58. The average content of cffDNA was 9.18% 鹵3.85 and negatively correlated with body weight. There was no significant correlation with gestational age. Conclusion. The screening efficiency of T21T _ (18) T _ (13) by NIPT in early pregnancy is high, and the clinical feasibility. The complex samples of early pregnancy can not be detected by NIPT, such as: embryo suspension, chromosome chimera.
【學(xué)位授予單位】：北京協(xié)和醫(yī)學(xué)院
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.5

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本文編號：1585635