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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 January 2019, over 3,000,000 NIFTY® samples have been processed worldwide.

NIFTY® Test Options

TrisomiesSex Chromosome AneuploidiesDeletion/Duplication SyndromesGender Identification
Down Syndrome (21)Turner SyndromeCri-du-chat Syndrome Male/Female
Edwards Syndrome (18)Klinefelter Syndrome1p36
Patau Syndrome (13)XXX2q33.1
22XYY Prader-Willi/Angelman Syndrome (15q11.2)
16Jacobsen Syndrome (11q23)
9DiGeorge 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. 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.