The NIFTY® test is a highly accurate non-invasive prenatal test (NIPT) that screens for chromosomal aneuploidies, including trisomies 21, 18 and 13, from as early as week 10 of pregnancy. NIFTY™ provides a significantly stronger risk indication than traditional screening procedures. With a sensitivity rate of >99% (validated on over 112,000 pregnancies) and a false positive rate of just 0.1% for trisomies 21, 18 and 13, NIFTY® ensures that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.
As of August 2022, over 11,520,000 NIFTY® samples have been processed worldwide.
NIFTY® can be offered with different test options to suit local market needs. The full scope of testing options is listed below.
| Trisomies* | Sex Chromosome Aneuploidies | Deletion/Duplication Syndromes | Gender Identification |
|---|---|---|---|
| Down Syndrome (T21) | Turner Syndrome | Prader-Willi/ Angelman Syndrome (15q11.2) | Male/Female*** |
| Edwards Syndrome (T18) | Klinefelter Syndrome | DiGeorge Syndrome (22q11.2) | |
| Patau Syndrome (T13) | XXX | Jacobsen Syndrome | |
| Trisomy 22 | XYY | Cat Eye Syndrome | |
| Trisomy 16 | Cri-Du-Chat Syndrome | ||
| Trisomy 9 | etc. |
*Testing services for trisomy conditions 21, 18 and 13 are available for twin pregnancies, egg donor pregnancies and IVF pregnancies. Other testing options may not be available for twin pregnancies, egg donor pregnancies and IVF pregnancies.
**For a detailed breakdown of the individual deletions and duplications that can be tested for, please contact us.
***In the case of twin pregnancies, the NIFTY® test can show if at least one of the foetuses is male, or whether both foetuses are female.
*NIFTY® detection rate for trisomy 21, 18 and 13.
*NIFTY® FP rate for trisomy 21, 18 and 13.
1) 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
2) Double Blinded Validation Study on 3,464 NIFTY™ Blood Samples.
3) 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
View all of our published reports relating to NIPT testing.
* Test accuracy figures quoted for NIFTY® are based on findings from three separately conducted independent studies (listed above) of non-invasive prenatal testing for fetal chromosomal abnormalities by whole-genome sequencing of maternal plasma DNA. Please refer to the Clinical Data page for more information.
* See the full list of CNV, please click here.
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