Clinical data

MORE THAN

6,000,000

NIPT TESTS PERFORMED

Up to this date, more than 6,000,000 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

T21
T18
T13
Total

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

No. of cases
T21
T18
T13
Trisomies (21, 18, 13)

NIPT 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

Detection rate

100%

100%

N/A

Specificity

99.97%

99.97%

N/A

* Subsequent validation karyotypings were performed on 182 NIPT positive and 2,818 NIPT negative women. Among the 11,105 women who were tested with NIPT, 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

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Trisomy

Trisomy

Trisomy

Trisomies

T21
T18
T13

NIPT positive

189

64

10

Karyotyping positive

188

63

10

False-positive no.

1*

1*

0

False-negative no.

0

0

0

Detection rate

100%

100%

100%

Specificity

99.97%

99.97%

100%

False-positive rate

0.03%

0.029%

0%

False-negative rate

0%

0%

0%

Positive predictive rate

99.49%

98.44%

100%

* Caused by insufficient sequencing depth

Positioning statements and 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

Published reports

Clinical and validation studies

Non-invasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies

Accurate Description of DNA-Based Noninvasive Prenatal Screening

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

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

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Non invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing large scale validity study

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy

Non-invasive Prenatal Testing of Trisomies 21 and 18 by Massively Parallel Sequencing of Maternal Plasma DNA in Twin Pregnancies

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole-genome sequencing as a clinical service

Twin pregnancies

Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing

Deletion syndromes

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

Monogenic diseases

Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in a-Thalassemia

Integration of targeted sequencing and NIFTY into clinical practice in a Chinese family with Maple syrup urine disease

Haplotype-assisted accurate noninvasive fetal whole-genome recovery through maternal plasma sequencing

Aneuplodies

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

Pregnancy inborn deformations

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

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