The NIFTY® Test

The NIFTY® Test


During the last decade, developments in the science of genetics and enormous advances in genetic technologies have altered our capability to understand diseases, make diagnoses and provide effective treatments. Transforming the world of prenatal testing, the advent of new DNA-based non-invasive prenatal testing (NIPT) has introduced a highly accurate screening strategy for fetal anueploidy.

The NIFTY® test (Non-Invasive Fetal TrisomY test) was the first NIPT to enter clinical testing in 2010 and has been validated by a study on nearly 147,000 pregnancies. As of 2019, over 6,000,000 NIFTY® tests have been carried out worldwide.

NIFTY® offers screening for some of the most common trisomies present at birth, inluding trisomy 21 (Down Syndrome), trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome). NIFTY® also provides testing options for sex chromosomal aneuploidies, chromosomal deletions/duplications and gender.


    pregnant women from week 10 of pregnancy

  • TA TIME:

    Under 7 working days


    Peripheral blood sample


    Low coverage whole genome sequencing

Why Choose the NIFTY® test?

  • Safe – no risk of miscarriage
  • Early – screen from week 10 of pregnancy
  • Fast – results delivered in under 7 working days
  • Accurate – over 99% sensitivity for trisomy conditions 21, 18 and 13
  • Trusted – over 6,000,000 samples processed worldwide, and validated on a study of over 147,000 pregnancies


Note: This information is for qualified healthcare providers only and is for informational purposes only. The NIFTY test is considered a screening test, not a diagnostic test, and therefore false positive and false negative results can occur. NIFTY does not screen for potential chromosomal or genetic conditions other than those expressly identified. Before making any treatment decisions, all women should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.

Conditions Screened


Sex Chromosome Aneuploidies

Deletion/Duplication Syndromes

Gender Identification

Down Syndrome (T21)

Turner Syndrome (monosomy X)

Cri-du-chat Syndrome


Edwards Syndrome (T18)

Klinefelter Syndrome (XXY)

1p36 Deletion Syndrome

Patau Syndrome (T13)

Triple X Syndrome (XXX)

2q33.1 Deletion Syndrome


Jacob Syndrome (XYY)

Prader-Willi/Angelman Syndrome


Jacobsen Syndrome


DiGeorge Syndrome II (10p14-p13)

16p11.2-p12.2 Deletion/Duplication Syndrome

Van der Woude Syndrome


Ordering The NIFTY® Test is easy.

  • STEP 1

    Physician orders test

  • STEP 2

    Blood sample collected

  • STEP 3

    Sample shipped to BGI and analyzed

  • STEP 4

    Results sent to physician

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