As of January 2015, 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.
The NIFTY™ test has also undergone extensive external validation. We have published the world’s largest study of the clinical performance of NIPT, with data calculated from the outcomes of over 112,000 pregnancies.
Wei Wang et al, Journal of Ultrasound in Obstetrics and Gynecology
| Total number of samples with known pregnancy outcomes in 112,669 cases | ||||||
|---|---|---|---|---|---|---|
| Trisomy | TP | FP | Sensitivity | Specificity | Positive predictive value(PPV) |
Negative predictive value (NPV) |
| T21 | 720 | 61 | 99.17% |
99.95% |
92.19% |
99.99% |
| T18 | 167 | 51 | 98.24% |
99.95% |
76.61% |
100% |
| T13 | 22 | 45 | 100% |
99.96% |
32.84% |
100% |
| Total | 909 | 157 | 99.02% | 99.86% | 85.27% | 99.99% |
Click image below to see graphic overview of the study.
Data from three further studies is listed below and more information can be found in the Published Reports section, which lists some of the 31 papers we have published relating to NIPT.
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 | ||||
|---|---|---|---|---|
| Total | Trisomy 21 | Trisomy 18 | Trisomy 13 | |
| Tested samples | 1982 | 23 | 4 | 2 |
| Karyotyping | 29 | 23 | 4 | 2 |
| Follow Up Investigation | 1645 | 0 | 0 | 0 |
| 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% |
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
| No. of Cases | Positive Results | Negative Results | |||
| T21 | T18 | T13 | |||
| NIFTY Positive | 11,105 | 140 (3) | 42 (5) | 0 | 10,915 |
| Karyotyping * | 182 + 2818 | 139 | 41 | 0 | 2820 |
| False Positive Rate | 0.03% | 0.03% | N/A | ||
| False Negative Rate | 0.00% | 0.00% | N/A | ||
| Sensitivity | 100.00% | 100.00% | N/A | ||
| Specificity | 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 on 3,464 NIFTY™ Blood Samples
| Trisomy 21 | Trisomy 18 | Trisomy 13 | |
|---|---|---|---|
| NIFTY positive | 189 | 64 | 10 |
| Karyotyping Positive | 188 | 63 | 10 |
| False Positive No. | 1* | 1* | 0 |
| False Negative No. | 0 | 0 | 0 |
| Sensitivity | 100% | 100% | 100% |
| Specificity | 99,97% | 99,97% | 100% |
| False Positive Rate | 0.03% | 0.029% | 0.00% |
| False Negative Rate | 0.00% | 0.00% | 0.00% |
| Positive Predictive Rate | 99.49% | 98.44% | 100.00% |
* Caused by insufficient sequencing depth
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
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