The NIFTY test is a non-invasive prenatal test (commonly termed an NIPT) that screens for Down Syndrome and over 70 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.
What does NIFTY screen for?
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.
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.
|NIFTY||Sensitivity Rate||Available for Twin Pregnancy|
|Trisomy 21 (Down syndrome)||Yes|
|Trisomy 18 (Edwards syndrome)||Yes|
|Trisomy 13 (Patau syndrome)|
|Additional Testing Options||99.12%||Yes|
|Trisomy 9||Sensitivity rate not yet validated||No|
|Sex Chromosome Aneuploidies||No|
|Monosomy X (Turner syndrome)|
|XXY (Klinefelter syndrome)||95%|
|11q11-q13.3 duplication Syndrome||No|
|distal arthrogryposis 2B type(DA2B)|
|12q14 microdeletion Syndrome|
|14q11-q22 deletion Syndrome||Sensitivity rate not yet validated|
|Holoprosencephaly 4 type(HPE4)|
|15q26 overgrowth Syndrome|
|16p11.2-p12.2 microdeletion Syndrome|
|Diaphragmatic hernia, congenital (HCD/DIH1)|
|16p11.2-p12.2 microduplication Syndrome|
|17q21.31 deletion Syndrome|
|Holoprosencephaly 6 type(HPE6)|
|17q21.31 duplication Syndrome|
|1p36 microdeletion Syndrome|
|1q21.2 deletion Syndrome|
|1q21.2 duplication Syndrome|
|Rieger Syndrome1 type (RIEG1)|
|Wilms tumor 1 (WT1)|
|Van der Woude Syndrome (VWS)|
|2q33.1 deletion Syndrome Cat-eye Syndrome(CES)|
|5q21.1-q31.2 deletion Syndrome|
|Monosomy 9p Syndrome|
|8p23.1 deletion Syndrome|
|8p23.1 duplication Syndrome|
|Mental Retardation Syndrome|
|Potocki-Lupski Syndrome (17p11.2 duplication Syndrome)|
|Androgen insensitivity Syndrome(AIS)|
|Leukodystrophy with 11q14.2q14.3|
|Mental retardation X-linked growth horm. Def (MRGH)|
|Aniridia II & WAGR Syndrome|
|Sensorineural deafness and male infertility|
|BranchlootorenaldysplasiaSyndrome(BOR)/Melnick -Frazer Syndrome|
|Duchenne muscular dystrophy (DMD);Duchenne/Becker mascular dystrophy (DMD/BMD)|
|Microphthalmia Syndrome 6 type, pituitary hypoplasia Split-Hand/Foot Malformation 5 type (SHFM5)|
|Chromosome 10q deletion Syndrome|
|Split-hand/foot malformation-3 type(SHFM3)|
|Chromosome 10q22.3-q23.31 microdeletion Syndrome|
|Trichorhinophalangeal Syndrome1 type(TRPS1)|
|Chromosome 18p deletion Syndrome|
|Trichorhinophalangeal Syndrome I type|
|Chromosome 18q deletion Syndrome|
|Microphthalmia with linear skin defects|
|Cornelia de Lange Syndrome(CDLS)|
|1q41-q42 microdeletion Syndrome|
|Cri du Chat(5p deletion)Syndrome|
|X-linked lymphoproliferative Syndrome(XLP)|
|Xp11.22-p11.23 microduplication Syndrome|
|DiGeorge Syndrome2 type (DGS2)|
|Holoprosencephaly 1 type (HPE1)|
*Non-Invasive Prenatal Testing For Trisomy 21, 18 and 13 – Clinical Experience from 146,958 pregnancies, Wei Wang et al, Journal of Ultrasound in Obstetrics and Gynecology
**Figure quoted based off internal data of total samples processed worldwide (around 450,000), end of 2014.