- 期刊
台灣某醫學中心非侵入性產前檢測（NIPT）胎兒非整倍染色體的報告調查
Non-invasive Prenatal Testing (NIPT) For Detection of Fetal Chromosomal Aneuploidy Surveyed In a Medical Center of Taiwan
摘要
過去十年產前遺傳診斷技術的快速發展令人驚豔，特別是利用孕婦血液中循環游離胎兒DNA進行非侵入性產前檢測（non-invasive prenatal testing，NIPT）胎兒染色體非整倍性。截至2023年4月，已有超過1400篇NIPT相關研究被發表，突顯該項檢測在胎兒診斷上的重要性。相較於傳統第一孕期與第二孕期唐氏症篩檢，NIPT具有較高的敏感性和特異性，在我們實驗室，NIPT對於目標染色體非整倍性的檢測敏感性為97.06%（33/34）、特異性為99.25%（3323/3348）、陽性預測值為56.90%（33/58）、陰性預測值為99.97%（3323/3324），而一致性達99.23%。對於21、18與13號染色體三體症檢測的個別敏感性則為94.74%（18/19）、100%（11/11）及100%（4/4），此結果指出NIPT對於常見染色體三體症具有非常高的診斷率，但資料顯示有少數孕婦檢測結果居於高風險臨界值，建議執行可再羊膜穿刺進行產前遺傳診斷。此外，抗凝血劑（如：clexane）或其他藥物對於孕婦血液中循環游離胎兒DNA濃度可能具有影響，因而降低NIPT準確性。
並列摘要
The last decade has seen incredible advances in techniques of prenatal genetic diagnosis, particularly in the non-invasive prenatal testing (NIPT) of fetal aneuploidy using circulating cell-free fetal DNA (cffDNA) from maternal blood. As of April 2023, more than 1,400 NIPT-related papers have been published, highlighting the importance of NIPT in fetal diagnosis. Compared with the first trimester and second trimester Down screening, NIPT has the advantage of high sensitivity and specificity. In our laboratory, the sensitivity of NIPT for detection of aneuploidies is estimated to be 97.06% (33/34), specificity is 99.25% (3,323/3,348), positive predictive value is 56.90% (33/58), negative predictive value is 99.97% (3,323/3,324), and the agreement is 99.23%. The detection rates of NIPT for trisomy 21, 18, and 13 are 94.74% (18/19), 100% (11/11), 100% (4/4) respectively. The results confirmed the high diagnostic rates of NIPT. Notably, NIPT shows boundary risk of trisomies in a few numbers of pregnant women. For these cases, amniocentesis is suggested for diagnosis. It was also noted that anticoagulants (e.g., clexane) or other drugs may affect the cffDNA concentrations, decreasing the diagnostic accuracy of NIPT.