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Clinical Data

Until November 2018 more than 3,500,000 samples were analyzed worldwide using accredited technology used in NIPT by GenePlanet test, more than any other NIPT provider, meaning we offer a tried and tested service you can be confident of.

The technology used by NIPT by GenePlanet has also undergone extensive external validation. Namely world’s largest study of the clinical performance of NIPT was published, with data calculated from the outcomes of over 112,000 pregnancies.

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

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)
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.


Download the published 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.

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

 High risk
TotalTrisomy 21Trisomy 18Trisomy 13
Tested samples19822342
Follow Up Investigation1645000
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

No. of CasesPositive ResultsNegative Results
NIPT Positive11,105140 (3)42 (5)010,915
Karyotyping *182 + 28181394102820
False Positive Rate0.03%0.03%N/A
False Negative Rate0.00%0.00%N/A
* Subsequent validation karyotypings were performed on NIPT 182 positive and 2,818 NIPT negative
women. Among the 11,105 women who were tested with NIPT, 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 NIPT Test

Double-blinded Validation on 3,464 NIPT Blood Samples

 Trisomy 21Trisomy 18Trisomy 13
NIPT positive1896410
Karyotyping Positive1886310
False Positive No.1*1*0
False Negative No.000
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

November 2012
German Human Genetics Society GfH

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