The NIFTY® test is a non-invasive prenatal test (commonly termed an NIPT) that screens for Down Syndrome and certain other genetic conditions caused by extra or missing genetic information in the baby’s DNA.
NIFTY® consists of a small maternal blood draw and is available from as early as week 10 of pregnancy. Results are available within 10 working days.
NIFTY® offers higher rates of accuracy than traditional screening tests and, unlike invasive procedures such as amniocentesis, poses no miscarriage risk to the mother or baby.
As of January 2019, over 3,000,000 NIFTY® tests have been performed worldwide.
NIFTY® screens for the three most common trisomy conditions present at birth which are Down Syndrome, Edwards Syndrome and Patau Syndrome. Independent validation studies, including the world’s largest study on the use of NIPT in clinical practice in nearly 147,000 women, have shown NIFTY® has an accuracy rate of over 99% for detection of these conditions.
However, it’s important to note that NIPTs like NIFTY®, are not classified as diagnostic. This means that they are not 100% accurate and that ‘false positive’ or ‘false negative’ results can very rarely occur.
NIFTY® also offers optional testing for other genetic conditions such as deletion syndromes and sex chromosome aneuploidies. If you choose to know, NIFTY® can also provide gender information.
Remember, it’s always important to consult a qualified healthcare professional before taking any genetic test to make sure you fully understand the conditions being tested for.
|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.
Independent validation studies references:
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) Non-Invasive Prenatal Testing for Trisomy 21, 18 and 13 – Clinical Experience from 146,958 Pregnancies: Published in the Journal of Ultrasound in Obstetrics and Gynecology