What is NIFTY prenatal test?

NIFTY® test (noninvasive fetal trisomy test) is the first noninvasive prenatal test developed as a clinical study in 2010 that checks for the most common trisomy at birth and can determine gender, gender chromosomal aneuploidy, and chromosomal deletions

To provide more detailed maternal research, with the NIFTY® update, which ended at the end of March 2018 as a NIFTY® PRO test, is possible to test all numerical chromosomal aneuploidy and 84 types of microdegeneration syndromes/duplication with a fourfold increase in data volume.

Tested conditions:

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Trisomy 9
• Trisomy 16
• Trisomy 22
• Monosomy X (Turner syndrome)
• XXY (Klinefelter syndrome)
• XXX (triple-X)
• XYY (Lambroso Syndrome)
• Determine gender (optional)

84 microdenection/duplication syndromes including:
• 4p16.3 (Wolf-Hirschhorn syndrome)
• 7q11.23 (Williams-Buren Syndrome)
• 15q11.2 (Prader-Willi / Angelman's Syndrome)
• 17p13.3 (Miller-Dicker Syndrome)
• 17p11.2 (Smith-Maggen's Syndrome)
• 22q11.2 deletion (DiGeorge syndrome)
• 10p14-p13 deletion (DiGeorge syndrome syndrome 2)
• 1p36 (chromosomal deletion syndrome 1p36)

NIFTY® test methodology

NFTY® PRO test isolates cfDNA (including maternal and fetal DNA) from a mother's blood sample, and then a low-level genome sequencing with Next Generation Sequencing (NGS) technology is done. The unique characteristics of each chromosome are calculated and compared to an optimal reference control sample. The data is analyzed using its BGI bio-information algorithms, determining the result/assessing the tested characteristics. For sex determination, after cfDNA, a molecular genetic test is done to analyze whether the chromosome Y was detected or not detected.

Introduction in tested genetic characteristics with NIFTY® prо

Trisomys
Trisomy is a type of aneuploidy in which three chromosomes are observed instead of the usual pairs of chromosomes. Trisomy 21 (Down syndrome) and Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau Syndrome) are the three most common autosomal chromosomal aneuploidy in live births. These chromosomal conditions are caused by the presence of an extra or partial copy of 21, 18, and 13 chromosomes, respectively. This additional genetic material can cause dysmorphic signs, congenital malformations, and varying degrees of intellectual disability. Up to now (31 April 2019), over 5 200 000 tests have been performed worldwide. You currently have the opportunity to take advantage of the BGI test.

Gender chromosomal aneuploidy
Gender chromosomal aneuploidy is defined as the statistical anomaly of chromosome X or Y with the addition or loss of the entire X or Y chromosome. Although most cases of gender chromosomal aneuploidy are usually light, without intellectual disability, some of them have a well-known phenotype, which may include physical anomalies, delayed learning abilities, and infertility.

Microdeletion syndromes/duplication
Chromosomal Microdeletion /duplication syndromes may cause serious congenital disabilities and health problems. The prevalence of these conditions varies from 1/4000 to 1/200 000. To pregnant women under 40, the probability of being affected by Microdeletion is even higher than with Down syndrome.

In which week of pregnancy, the NIFTY® pro test can be performed:

The analysis can be performed at the 10th week of pregnancy.

The NIFTY® pro test is suitable for all pregnant women and is recommended for women at high risk:

1.    The mother is 35-years-old or older
2.    If you have ultrasound results showing the pathology of the fetus
3.    Confirmation of previous screening results is required
4.    IVF treatment
5.    Previous unsuccessful pregnancies and reproductive problems
6.    Contraindications for invasive prenatal tests such as placenta previa, risk of pregnancy loss, HBV (hepatitis B infection)
7.    A history of previous pregnancy with a chromosomal anomaly
8.    Parent chromosomal abnormalities or balanced translocations

Necessary time to get the results of the NIFTY® pro test

The test result is received at the laboratory where the sample was taken within 10 calendar days of dispatch to DHL MEDICAL EXPRESS.

NIFTY Pro prenatal test is performed after booking an appointment from Monday to Thursday between 10:00 and 12:00.

Book your prenatal NIFTY Pro test by calling our Contact center: +359 2 920 09 01.

For further information and results, contact our genetic laboratory: +359 897 094 423.

NIFTY Pro is a prenatal chromosome abnormality test in which a standard sample of the mother's blood from which the baby's DNA is isolated and taken without any risk of pregnancy loss. The technology based on DNA analysis used in the NIFTY Pro test defines accurately over 99% of the presence of certain genetic anomalies of the fetus. The test is performed after the 10th gestational week (including) of the pregnancy, with the results after taking the blood sample are ready within 10 working days.