本文選題：無創(chuàng)產(chǎn)前基因檢測　切入點：產(chǎn)前篩查　出處：《中國優(yōu)生與遺傳雜志》2016年02期 　論文類型：期刊論文

【摘要】：目的探討無創(chuàng)產(chǎn)前基因檢測技術在胎兒染色體非整倍體篩查中的應用價值。方法選擇在醫(yī)院行無創(chuàng)產(chǎn)前基因檢測的單胎孕婦450例,對孕婦外周血中游離DNA進行高通量測序,對檢測結果高風險者進行羊膜腔穿刺或臍靜脈血穿刺行胎兒染色體核型分析,對檢測結果低風險者行電話隨訪。結果 450例孕婦中,無創(chuàng)產(chǎn)前基因檢測高風險9例。高風險孕婦均行介入性產(chǎn)前診斷,確診唐氏綜合癥5例,18三體綜合癥2例,性染色體異常1例(47,XXX),染色體核型正常1例。低風險孕婦追蹤隨訪未發(fā)現(xiàn)唐氏兒漏診。其靈敏度為100%,特異度為99.77%,假陽性率0.23%,陽性預測值為88.89%,陰性預測值100%,Youden指數(shù)為0.9977。結論無創(chuàng)產(chǎn)前基因檢測技術具有高靈敏性,低假陽性,對降低出生缺陷率是有效的,值得在臨床上推廣應用。
[Abstract]:Objective to explore the application value of noninvasive prenatal gene detection technique in fetal chromosome aneuploidy screening. Methods 450 single fetal pregnant women who underwent non-invasive prenatal gene detection in hospital were selected to carry out high throughput sequencing of free DNA in maternal peripheral blood. The chromosomal karyotype of fetus was analyzed by amniocentesis or umbilical vein blood puncture in patients with high risk. Non-invasive prenatal gene detection was performed in 9 cases. Interventional prenatal diagnosis was performed in all high-risk pregnant women, and 5 cases of Down's syndrome were diagnosed as trisomy 18 syndrome, 2 cases were diagnosed as trisomy 18 syndrome. Sex chromosome abnormality was found in 1 case, chromosome karyotype was normal in 1 case. Follow-up of low risk pregnant women showed no missed diagnosis of Down's infant. Its sensitivity was 100, specificity was 99.77 and false positive rate was 0.23. The positive predictive value was 88.89 and the Youden index of negative predictive value was 0.9977. Conclusion Non-invasive prenatal gene detection technique has high sensitivity. Low false positive rate is effective in reducing birth defect rate and is worth popularizing in clinic.
【作者單位】： 廣東省佛山市第一人民醫(yī)院產(chǎn)前診斷中心;
【基金】：佛山市衛(wèi)生和計生局醫(yī)學科研課題(孕早期無創(chuàng)性出生缺陷篩查與快速分子診斷染色體非整倍體技術的研究.編號2015249)
【分類號】：R714.55;R440

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