全方位
非侵入性胎兒染色體檢測
Noninvasive Prenatal Testing (NIPT)
人類遺傳學會新訊
2015 歐洲人類遺傳學會與美國遺傳學會共同發表聲明
With improving screening technologies and decreasing costs of sequencing and analysis, NIPT will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies.
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In a recent meta-analysis in which the results of a large number of studies were pooled, NIPT was found to have a sensitivity of 99% for trisomy 21, and a specificity of 99.92%.For trisomy 18, the reported figures were 96.8% (sensitivity) and 99.85% (specificity). For trisomy 13, they were 92.1 and 99.80% respectively.
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NIPT offers improved accuracy when testing for common autosomal aneuploidies compared with existing tests such as cFTS.
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In countries where prenatal screening for fetal abnormalities is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible introduction of NIPT as a second or first-tier screening test for Down syndrome and other common autosomal aneuploidies.
隨著檢測技術的進步與檢測價格的下降，NIPT 將成為普及的檢測方式。有統計指出 NIPT 檢測 T21 敏感性達 99%，特異性達 99.92%，檢測 T18 敏感性達 96.8%，特異性達 99.85%，檢測 T13 敏感性達 92.1%，特異性達 99.80%。以 NIPT 檢測常見的染色體異常疾病 (唐氏症、愛德華氏症、巴陶氏症) ，相較於傳統母血唐氏症篩檢，NIPT 具有較高的準確度。將產前篩檢當作公共衛生計畫的國家，其政府與公共衛生部門應該積極的引進 NIPT 作為唐氏症與其他常見染色體非整倍體疾病的第二線或第一線篩檢。
