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臨床資料

在2014年1月,全球已處理多於40萬例NIFTY™檢測,為全球最大的無創產前檢測供應商,為安全、值得信賴的無創產前檢測供應商。

NIFTY™檢測已取得多項廣泛的認證。我們已發表一份全球最大的有關無創產前檢測的臨床表現文章,有關數據來自112,000位孕婦測試結果:

Non-Invasive Prenatal Testing For Trisomy 21, 18 and 13 – Clinical Experience from 146,958 Pregnancies

Wei Wang et al, Journal of Ultrasound in Obstetrics and Gynecology

112,669個已進行回訪的樣品
三倍體TPFP靈敏度特異性陽性預測值
陰性預測值
唐氏綜合症7206199.17%
99.95%
92.19%
99.99%
愛德華氏綜合症1675198.24%
99.95%
76.61%
100%
巴陶氏綜合症2245100%
99.96%
32.84%
100%
綜合數值90915799.02% 99.86% 85.27% 99.99%
我們把在2011年1月至2014年8月處理過的樣品進行整理及研究,其分析結果發佈在Ultrasound in Obstetrics and Gynecology刊物中。

 

按以下圖片以查看研究介紹

NIPT study graphic

 

以下數據為另外列表中的三項研究中所得,如要獲得更多無創產前檢測(NIPT)的文章,可在已發佈文章中找到,共列出31份關於NIPT的文章。

在1,982例連續樣品中,檢測NIFTY™檢測的準確率。

Lau T. K. et al, ‘Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center’, Ultrasound Obstet Gynecol 2014; 43: 254–264

 高危樣品數
加總三體唐氏綜合症三體愛德華氏綜合症三體巴陶氏綜合症
檢測樣品數19822342
核型分析292342
跟進調查1645000
靈敏度-100%
(23/23)
100%
(23/23)
100%
(23/23)
特異性-100%
(1959/1959)
100%
(1978/1978)
100%
(1980/1980)
假陽性-0%0%0%
假陰性-0%0%0%

最大規模NIFTY™檢測驗證(在11,105孕婦中,研究T-21,T-18三倍體的準確率)

Dan S. et al, ‘Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.’ Prenat. Diagn., 32: 1225–1232. doi: 10.1002/pd.4002

樣品數陽性樣品數陰性樣品數
T21T18T13
NIFTY 陽性樣品數11,105140 (3)42 (5)010,915
核型分析陽性樣品數 *182 + 28181394102820
假陽性0.03%0.03%N/A
假陰性0.00%0.00%N/A
靈敏度100.00%100.00%N/A
特異性99.97%99.97%N/A
* Subsequent validation karyotypings were performed on NIFTY™ 182 positive and 2,818 NIFTY™ negative
women. Among the 11,105 women who were tested with NIFTYTM, three T21 and five T18 cases terminated the
pregnancy, 8,097 were not willing to undergo the invasive procedures required for karyotyping. [Ref. 8]

Double-Blinded Validation of The NIFTY™ Test

NIFTY™檢測雙盲實驗驗證 (3,464例NIFTY™血液樣品)

 三體唐氏綜合症三體愛德華氏綜合症三體巴陶氏綜合症
陽性樣品數1896410
核型分析陽性樣品數1886310
假陽性數1*1*0
假陰性數000
靈敏度100%100%100%
特異性99,97%99,97%100%
假陽性率0.03%0.029%0.00%
假陰性率0.00%0.00%0.00%
陽性預測率99.49%98.44%100.00%
* Caused by insufficient sequencing depth
Positioning Statements/Guidelines Regarding NIPT

有關的NIPT的定位聲明/準則

October 2012
International Society for Prenatal Diagnosis ISPD
Prenat Diagn 2012;32:1-2

June 2012
Association of Privately Practising Prenatal Medical Professionals BVNP
www.bvnp.de

November 2012
German Human Genetics Society GfH
www.gfhev.de

December 2012
The American College of Obstetricians and Gynecologists Committee on Genetics and
The Society for Maternal-Fetal Medicine Publications Committee ACOG
www.acog.org