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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.

To date, over 2,000,000 NIFTY samples have been processed worldwide.

NIFTY™ Test Options

Trisomies Sex Chromosome Aneuploidies Deletion/Duplication Syndromes Gender Identification
Down Syndrome (21) Turner Syndrome Cri-du-chat Syndrome Male/Female
Edwards Syndrome (18) Klinefelter Syndrome 1p36  
Patau Syndrome (13) XXX 2q33.1  
22 XYY Prader-Willi/Angelman Syndrome (15q11.2)  
16   Jacobsen Syndrome (11q23)  
9   DiGeorge Syndrome II (10p14-p13)  
    Van der Woude Syndrome (1q32.2)  

Testing services for trisomy conditions 21, 18 and 13 are available for twin pregnancies, egg donor pregnancies and IVF pregnancies.

NIFTY™ Advantages

  • Most validated NIPT on the market with a published study based on the pregnancy outcomes of over 112,000 women.
  • 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.

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