Clinical data

MORE THAN

16,000,000

NIPT TESTS PERFORMED

Up to this date, more than 16,000,000 NIPT tests with our technology have been performed worldwide (more than any other NIPT provider), which means that we offer a proven and trusted service.

VALIDATED ON

147,000

PREGNANCIES

The NIPT by GenePlanet test was independently validated. The largest study of the clinical use of NIPT included more than 147,000 pregnancies.

Below we present data from selected studies. You can find more information at the bottom of the page, in the Published reports section. It lists some of the 31 papers published relating to 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 a known outcome of pregnancy in 146,958 cases

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Trisomy

Trisomy

Trisomy

Trisomies

Trisomy

T21
T18
T13
Total

True-positive result

720

167

22

909

False-positive result

61

51

45

157

Detection rate

99.17%

98.24%

100%

99.02%

Specificity

99.95%

99.95%

99.96%

99.86%

Positive predictive value (PPV)

92.19%

76.61%

32.84%

85.27%

Negative predictive value (NPV)

99.99%

100%

100%

99.99%

The samples were collected between January 2011 and August 2013. The study was published in the scientific journal „Ultrasound in Obstetrics and Gynecology.“

Non-invasive prenatal testing for fetal chromosomal abnormalities: 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

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High risk

High risk

High risk

High risk

Tested samples

23
4
2
1982

Karyotyping

23

4

2

29

Follow-up investigation

0

0

0

1645

Detection rate

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 NIPT 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

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Positive results

Positive results

Positive results

Negative results

Positive results

Negative results

NIPT positive