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The NIFTY test is a new method of non-invasive, genetic prenatal testing by 99%. detection rate for Down's syndrome, Edwards' syndrome and Patau's syndrome. Thanks to a small percentage of false-positive results, NIFTY minimizes the risk of unnecessary invasive tests. How does the NIFTY test work? And how much do you have to pay for it?

The NIFTY test(abbreviation of: Non-invasive Fetal Trisomy Test) is a non-invasive prenatal test used to determine the risk of fetal trisomy, responsible, inter alia, for Down's syndrome. The test also detects aneuploidy (abnormalities in the number of chromosomes - in humans most often: monosomy or trisomy) of sex chromosomes, selected microdeletion syndromes. It gives the opportunity to find out the sex of the child.

Trisomes of chromosomes 21, 18, 13 are the most common syndromes of birth defects caused by the presence of extra copies of chromosome 21, 18 or 13. On average, 1 in 800 babies is born with Down's syndrome (trisomy 21), one in 6,000 babies - with Edwards syndrome (trisomy 18) and 1 in 10,000 with Patau syndrome (trisomy 13).

Contraindications for the NIFTY test

  • if the woman has ever received stem cell therapy
  • if you had a blood transfusion in the 6 months prior to pregnancy
  • if the woman has undergone an organ transplant
  • when the mother is a carrier of chromosomal aneuploidy, chromosomal chimeric, microdeletions and chromosomal microduplications

NFTY is also available for:

  • twin pregnancy (only in the presence of trisomy)
  • of pregnancy in an egg recipient
  • women who underwent IVF treatment

Where can I take the NIFTY test and how much does it cost?

The list of centers performing the NIFTY test, broken down by provinces, can be found at www.nifty.pl.

The price of the NIFTY test depends on the laboratory and the scope of the test - the more genetic abnormalities you want to test, the more you will pay (from PLN 1,900 to PLN 2,800).

  • NIFTY Basic (detects trisomes 21, 18, 13)
  • NIFTY Standard (detects trisomes 21, 18, 13 and 4 aneuploidy of sex chromosomes)
  • NIFTY Plus (detects trisomes 21, 18, 13, 9, 16, 22, 4 aneuploidy of sex chromosomes, and 60microdeletion / duplication teams)
  • NIFTY Twins test (equivalent to the NIFTY Basic test for a twin pregnancy)

NIFTY test - mileage and plausibility

The NIFTY test is based on the isolation of the genetic material of the baby circulating in the mother's peripheral blood, and then its analysis using advanced sequencing techniques. Thanks to this, it does not carry the risk of miscarriage and intrauterine infection, and is also characterized by a very high accuracy - over 99% and a low percentage of false positive results - below 1%.

Currently, non-invasive methods for trisomy (maternal blood chemistry: PAPP-A double test, free beta-hCG) identify the risk of trisomy only with 60-80% accuracy and in 5% of cases give false positive results. Integrated tests are more accurate (ultrasound - nuchal translucency test + PAPPA and beta-hCG test) - they detect the defect in 90-95% of cases, but the percentage of false positive results is the same - about 5%.

The NIFTY test can be done by womenbetween 10 and 25 weeks of pregnancy . You wait up to 10 days for the result from blood collection. The sample is sent to the laboratory where the test is performed. The result is issued by an authorized laboratory diagnostician. The NIFTY study obtained the European EC Certificate - Full Quality Assurance, confirming compliance with the requirements of Directive 98/79 / EC regarding in vitro diagnostic medical devices.

NIFTY test positive - what's next?

The NIFTY test result is reported as the risk of trisomy (percentage) andis not a definitive diagnosisand is not an indication for termination of pregnancy.

If the NIFTY test shows a high risk of a genetic defect, another test is performed to confirm the result, this time invasive: amniocentesis. The same is done in the case of PAPPA and beta-hCG tests - the difference is almost 100%. accuracy and minimum false-positive rate with the NIFTY test. This allows you to reduce the number of risky, unnecessarily performed invasive tests.

Indications for the NIFTY test

The NIFTY test is recommended for:

  • women over the age of 35 who do not want to opt for invasive prenatal testing
  • women whose biochemical and ultrasound results in the first and second trimesters of pregnancy suggest a high risk of chromosomal aneuploidy
  • women who have contraindications for invasive prenatal testing, such as placenta previa, high risk of miscarriage, HBV, HIV infection
According to an expertdrn. med. Grzegorz Południewski, specialist in gynecology and obstetrics

The NIFTY test is non-invasive, early and very sensitive, with a minimal risk of error (less than 0.5%). Normal results ensure that there are no chromosomal abnormalities and do not require further diagnostics. Confirming it invasive only applies to those forfeits that have an abnormal result. Incorrect results of other non-invasive tests are confirmed by actual defects only in approx. 6%. The performance of NIFTY allows to avoid unnecessary invasive tests in women with genetically he althy offspring. One of the reasons for using this test is that there is a higher percentage of women who decide to become pregnant at a later age. Also, the increased awareness of the risk of pregnancies with defects in people with a history of birth or those who give birth later causes the desire to clarify the genetic risk as soon as possible and continue to calmly wait for the delivery.

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Pregnant examinations