Clinical data

Up to this date, more than 3,900,000 NIPT tests with our technology have been made worldwide (more than any other NIPT provider), which means that we offer a proven and trusted service.

The NIPT by Geneplanet test was independently validated. The largest study of NIPT clinical use in the world on more than 147,000 pregnancies has been published.

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

TrisomyTrue positive resultFalse positive resultSensitivitySpecificityPositive 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 %

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

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
* 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 Rate00.00%00.00%00.00%
Positive Predictive Rate99.49%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
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
GenePlanet d.o.o., Cesta na Poljane 24, 1000 Ljubljana, Slovenia | +386 59 22 66 09 |

During the COVID-19 the testing and sample analyses remain safe and do not represent any risk for the fetus.

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