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Clinical Data

As of January 2014, more than 600,000 thousand NIFTY™ tests have been processed worldwide, more than any other NIPT provider, meaning we offer a tried and tested service you can be confident of.

Our internal data shows the NIFTY™ test has

– a no call rate of just 0.069%
– a false positive rate of just 0.1% for trisomies 21/18/13
– and a redraw rate of just 2.8%

meaning we are proud to offer one of the most reliable tests on the market.

The NIFTY™ test has also undergone extensive external validation. We have published the world’s largest study of the clinical performance of NIPT:

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

Total number of samples with known pregnancy outcomes in 112,669 cases
TrisomyTPFPSensitivitySpecificityPositive predictive value(PPV)
Negative predictive value (NPV)
T217206199.17%
99.95%
92.19%
99.99%
T181675198.24%
99.95%
76.61%
100%
T132245100%
99.96%
32.84%
100%
Total90915799.02% 99.86% 85.27% 99.99%
Samples were collected between Jan 2011 and Aug 2013. Study was published in the journal of Ultrasound in Obstetrics and Gynecology.

 

Data from three further studies is listed below and further information can be found in the Published Reports section, which lists some of the 31 papers we have published relating to NIPT.

 

Non-invasive prenatal testing for fetal chromosomal abnormalities (The NIFTY™ Test): review of 1,982 consecutive cases in a single centre

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

 High risk
TotalTrisomy 21Trisomy 18Trisomy 13
Tested samples19822342
Karyotyping292342
Follow Up Investigation1645000
Sensitivity-100%
(23/23)
100%
(23/23)
100%
(23/23)
Specificity-100%
(1959/1959)
100%
(1978/1978)
100%
(1980/1980)
False Positive Rate-0%0%0%
False Negative Rate-0%0%0%

Large Scale Validation of The NIFTY™ Test: for trisomies 21 and 18 in 11,105 pregnancies

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

Počet prípadovPozitívne výsledkyNegatívne výsledky
T21T18T13
NIFTY pozitívne11,105140 (3)42 (5)010,915
Stanovenie karyotypu *182 + 28181394102820
Miera falošnej pozitivity0.03%0.03%N/A
Miera falošnej negativity0.00%0.00%N/A
Senzitivita100.00%100.00%N/A
Špecificita99.97%99.97%N/A
* U 182 žien s pozitívnym výsledkom testu NIFTYTM a 2 818 žien s negatívnym výsledkom testu NIFTYTM sa následne uskutočnilo potvrdzujúce stanovenie karyotypu. Z počtu 11 105 žien, ktoré boli vyšetrené testom NIFTY™, tri prípady trizómie 21 a päť prípadov trizómie 18 ukončili tehotenstvo; 8 097 žien nebolo ochotných podstúpiť invazívne testovanie potrebné na stanovenie karyotypu. [Ref. 8]

Double-Blinded Validation of The NIFTY™ Test

Double-blinded Validation on 3,464 NIFTY™ Blood Samples

 Trisomy 21Trisomy 18Trisomy 13
NIFTY positive1896410
Karyotyping Positive1886310
False Positive No.1*1*0
False Negative No.000
Sensitivity100%100%100%
Specificity99,97%99,97%100%
False Positive Rate0.03%0.029%0.00%
False Negative Rate0.00%0.00%0.00%
Positive Predictive Rate99.49%98.44%100.00%
* Caused by insufficient sequencing depth
Positioning Statements/Guidelines Regarding NIPT

Positioning Statements/Guidelines Regarding NIPT

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