For doctors
Clinical data
MORE THAN
10,000,000
NIPT TESTS PERFORMED
Up to this date, more than 10,000,000 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
Swipe horizontaly to reveal more | 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
Swipe horizontaly to reveal more | 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% | 100% | 100% | - | ||
Specificity | 100% | 100% | 100% | - | ||
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
Swipe horizontaly to reveal more | 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 | 100.00% | 100.00% | 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
Swipe horizontaly to reveal more | 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 | 100.00% | 100.00% | 100.00% | |||
Specificity | 99.97% | 99.97% | 100.00% | |||
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 and guidelines regarding NIPT
October 2012
International Society for Prenatal Diagnosis ISPD
Prenat Diagn 2012;32:1-2
December 2012
The American College of Obstetricians and Gynecologists Committee on Genetics and The Society for Maternal-Fetal Medicine Publications Committee ACOGP
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
Noninvasive prenatal testing of trisomies 21 and 18
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 NIPT 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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