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Introduction to NIFTY®

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® Test Options

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 AneuploidiesDeletion/Duplication SyndromesGender Identification
Down Syndrome (T21)Turner SyndromePrader-Willi/ Angelman Syndrome (15q11.2)Male/Female***
Edwards Syndrome (T18)Klinefelter SyndromeDiGeorge Syndrome (22q11.2)
Patau Syndrome (T13)XXXJacobsen Syndrome
Trisomy 22XYY Cat Eye Syndrome
Trisomy 16Cri-Du-Chat Syndrome
Trisomy 9etc.

*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® Advantages

  • Most validated NIPT on the market with a published study based on the pregnancy outcomes of over 112,000 women. No other test has validation data based on such a large cohort.
  • The only NIPT on the market to offer testing services for deletion syndromes and sex chromosome aneuploidies at no extra cost.
  • Proven low redraw rate of just 2.8% based on over 600,000 tests.
  • Largest capacity and coverage making NIFTY® price competitive against all other NIPT providers.


A Comparison of Detection Rates*



*NIFTY® detection rate for trisomy 21, 18 and 13.

A Comparison of False Positive Rates (FPR)*



*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.