NIFTY (Non-invasive Fetal Trisomy Test) is a non-invasive prenatal test which is 
used for diagnosing fetal trisomy. The test is based on the analysis of cell 
free fetal DNA (cffDNA) present in the plasma and serum of a pregnant woman. 
NIFTY allows to detect fetal trisomy of chromosomes 13, 18, 21, X and Y and also 
X monosomy. Abnormal NIFTY results still need to be verified using other 
diagnostic techniques. However the sensitivity of NIFTY for trisomy 21, 18 and 
13 is estimated at 99%, 97% and 79% respectively with false positive rate for 
all examined trisomies and X monosomy of < 1%. NIFTY is currently available in 
Poland as a commercial service, used as a good screening test for common 
trisomies (apart from ultrasound and biochemical tests) in the case of patient 
anxiety and in situation when the patient does not consent to invasive prenatal 
diagnostic tests. The sensitivity and specificity of NIFTY will most likely be 
improved as laboratory methods develop, and after a sufficiently large group of 
pregnant patients has been tested. Therefore, this test may soon become the 
primary diagnostic tool for common trisomies, allowing to avoid invasive 
prenatal testing in this indication. With high probability cffDNA obtained from 
the serum of pregnant women will also be used with time in the diagnosis of 
fetal structural chromosomal aberrations and other genetic changes. The aim of 
our study is to present a new diagnostic method.