本文選題：無創(chuàng)DNA檢測(cè)技術(shù) + 胎兒染色體非整倍體�。� 參考：《中國醫(yī)學(xué)創(chuàng)新》2016年35期

【摘要】：目的:探討無創(chuàng)DNA檢測(cè)技術(shù)在胎兒染色體非整倍體篩查中的應(yīng)用效果觀察及價(jià)值。方法:回顧性分析2013年12月-2015年12月于本院產(chǎn)前篩查中心通過無創(chuàng)DNA檢測(cè)技術(shù)進(jìn)行篩查的1782例孕婦的產(chǎn)前篩查資料,評(píng)估胎兒患21-三體(唐氏,Down)綜合征、18-三體(愛得華氏,Edwards)綜合征及13-三體(Patau)綜合征、性染色體疾病的風(fēng)險(xiǎn),觀察無創(chuàng)DNA檢測(cè)技術(shù)篩查結(jié)果及其對(duì)胎兒染色體非整倍體診斷的靈敏度、誤診率及準(zhǔn)確性。結(jié)果:1782例受檢孕婦外周血胎兒DNA樣本中,染色體疾病陽性23例,其中Down綜合征9例,Edwards綜合征2例,Patau綜合征1例,性染色體疾病7例,其他染色體疾病4例;陰性1759例。將陽性結(jié)果與羊水穿刺染色體核型分析結(jié)果進(jìn)行對(duì)比分析后發(fā)現(xiàn),篩查出的Down綜合征中有1例為假陽性,Edwards綜合征、Patau綜合征、性染色體疾病及其他染色體疾病中均無假陽性,經(jīng)隨訪觀察,1759例陰性結(jié)果中無假陰性,無創(chuàng)DNA檢測(cè)技術(shù)檢測(cè)胎兒Down綜合征的靈敏度為100%(8/8),誤診率為0.06%(1/1760),準(zhǔn)確率為88.89%(8/9),無創(chuàng)DNA檢測(cè)技術(shù)檢測(cè)胎兒Edwards綜合征及Patau綜合征的靈敏度及準(zhǔn)確性均為100%,誤診率為0。參考金標(biāo)準(zhǔn)檢測(cè)結(jié)果可知,1782例受檢孕婦中胎兒患染色體疾病總風(fēng)險(xiǎn)率為1.23%(22/1782),其中Down綜合征的風(fēng)險(xiǎn)率為0.45%(8/1782),Edwards綜合征的風(fēng)險(xiǎn)率為0.11%(2/1782),Patau綜合征的風(fēng)險(xiǎn)率為0.06%(1/1782),性染色體疾病的風(fēng)險(xiǎn)率為0.39%(7/1782),其他染色體疾病的風(fēng)險(xiǎn)率為0.22%(4/1782)。結(jié)論:無創(chuàng)DNA檢測(cè)技術(shù)在胎兒染色體疾病篩查中可有效提高產(chǎn)前篩查確診率,其敏感性、準(zhǔn)確性較高,能夠方便、快捷地檢測(cè)出染色體數(shù)目異常,是臨床價(jià)值較高的產(chǎn)前篩查方法。
[Abstract]:Objective: to investigate the effect and value of noninvasive DNA in fetal chromosome aneuploidy screening. Methods: the data of 1782 pregnant women who were screened by non-invasive DNA technique in our hospital from December 2013 to December 2015 were analyzed retrospectively. To assess the risk of sexual chromosome disease in fetuses with 21-trisomy (Down) syndrome, 18-trisomy (Edwards) syndrome and 13-trisomy Patausyndrome, To observe the results of noninvasive DNA screening and its sensitivity, misdiagnosis rate and accuracy in the diagnosis of fetal chromosomal aneuploidy. Results of the 1 782 pregnant women, 23 were positive for chromosomal diseases, including 9 cases of Down syndrome, 2 cases of Down syndrome, 7 cases of sex chromosome disease, 4 cases of other chromosomal diseases, and 1759 cases of negative chromosome disease, among them, 9 cases were Down syndrome, 2 cases were Down syndrome, 7 cases were sex chromosome disease, 4 cases were other chromosomal diseases. By comparing the positive results with the results of chromosome karyotype analysis in amniocentesis, it was found that one of the screened Down syndrome was false positive Edwards syndrome Patau syndrome, and no false positive was found in sex chromosome diseases and other chromosomal diseases. There were no false negative results in 1759 cases. The sensitivity of noninvasive DNA in detecting fetal Down syndrome was 100 / 8 / 8, the misdiagnosis rate was 0.06 / 1760%, and the accuracy was 88.8989 / 8 / 9. The sensitivity and accuracy of noninvasive DNA technique in detecting fetal Edwards syndrome and Patau syndrome were 100% and 0% respectively. The results of reference gold standard test showed that the total risk rate of chromosomal diseases in the fetuses of 1782 pregnant women tested was 1.23 and the risk rate of Down syndrome was 0.4550 / 1782. The risk rate of Down syndrome was 0.11 / 2 / 1782 / Patau syndrome, 0.066% / 1782% and 0.066% / 1782% respectively, and the risk rate of Down syndrome was 0.066% / 1782%, and the risk rate of Down's syndrome was 0.45% / 1782% / 0.11% / 1 782% respectively, and the risk rate of sexual chromosome disease was 0.066% / 1782%, respectively. The risk rate is 0.39 / 1782, and the risk rate for other chromosomal diseases is 0.22 / 1782. Conclusion: Non-invasive DNA can effectively improve the diagnostic rate of prenatal screening for fetal chromosomal diseases, and its sensitivity, accuracy, convenience and speed can be used to detect chromosomal abnormalities. It is a high clinical value of prenatal screening method.
【作者單位】： 廣東省陽江市婦幼保健院;
【分類號(hào)】：R714.53

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