Main section

Nifty Test: What Are You And How Exact?

The NIFTY Test is one of the most comprehensive non-invasive pregnancy screening tests What you need to know?

Nifty Test: What Are You And How Exact?Meaning of NIFTY font Non Invasive Fetal (fetal) Trisomia. The NIFTY test is a highly accurate prenatal genetic screening test based on a fetal DNA test in the mother's blood, which can also detect the sex of the fetus. It also has the advantage that it can be used for gestational pregnancy and also for twin pregnancies (only the base panel).

The developer of the test

The test is developed and marketed by a Hong Kong-based company, BGI, one of the largest organizations in the world for genetic research, testing and services.

Which abnormalities are suitable for NIFTY filtering?

NIFTY measures the risk of Down, Edwards, and Patau syndromes with more than 99 percent sensitivity, and also allows for the examination of other trisomies, sex chromosomal abnormalities, and microdeletions. The NIFTY test can also determine the sex of the child.



Trisymias are numerical abnormalities of the body chromosome that influence the further development of the fetus. In the case of trisomies, an accidental cell division error occurs instead of two chromosomes. Down syndrome is the most well-known among the trisomies, with rarer forms of trisomy 18 (Edwards' disease) and 13 (Patau's disease). In addition to this three abnormalities, NIFTY also screen for trisomy 9, 16, and 22 abnormalities.

Numerical deviations of the chvar chromosomes

Each cell in the human body contains 46 chromosomes: 44 body chromosomes (autosomes) and 2 sex chromosomes. Gender chromosomes play a role in gender decision making and are microscopic in appearance, similar to X and Y. Numerical sex chromosome aberrations mean that the presence of either a plus or a lacking X or Y chromosome can be observed.
Sexual chromosome aberrations do not necessarily go hand in hand with malformation. Differences occur primarily in the development of the external and internal genitals, as well as primary and secondary genitalia.The NIFTY test each of these sex chromosomes can be screened:
  • Turner syndrome (X monosomy)
  • Klinefelter Syndrome (XXY)
  • Triple-X Syndrome (XXX)
  • Jacob's Syndrome (Double-Y, XYY)

Microdeletion / duplication syndrome

These syndromes represent structural changes in the chromosome. The deletion of a chromosome means that a portion of the chromosome is lost or torn. The serious consequences of this depend primarily on the size of the part of the chromosome that is deleted and where the fragment is located. . Deletions and duplicates are rare, but can also cause very serious malformations.
It is important to know that these differences are not detected by invasive examinations (amniotic fluid test, rabies test). This is the only information that can be obtained with the help of fetal DNA testing. The test shows 84 deletion or duplication syndromes, including
  • Di George Syndrome (22q11.21)
  • Prader-Willi / Angelman syndrome (15q11.2)
  • Wolf-Hirschhorn Syndrome (4p16.3)
  • Cri-du-chat syndrome (5p)
  • 1p36 deletion syndrome
  • Williams-Beuren Syndrome (7q11.23)
  • Miller-Dieker Syndrome (17p13.3)
  • Smith-Magenis Syndrome (17q11.2)

Who is recommended to take the test?

  • for infants who are at higher risk for Down syndrome and want the highest precision screening possible without invasive screening intervention
  • who suspects fetal chromosomal abnormalities based on combined test results
  • for whom invasive prenatal tests are contraindicated for some reason (eg due to risk of miscarriage)
  • who want a more reliable test than the combined test without invasive screening

The following is (in rare cases) not recommended to perform the test

  • maternal, fetal and / or pleural mosaicism (mixing of normal and lymphatic chromosome-forming cells)
  • if the mother chromosome is an abnormality, duplication / deletion is maintained
  • if the mother has a malignant and / or malignant tumor
  • parental balanced / unbalanced translocation, chromosome inversions
  • if the mother has undergone abnormal blood loss or organ transplantation within 1 year,

When can I take the test?

Pregnancy can be done from the 10th week onwards, but mainly in early pregnancy - it is recommended to have an ultrasound examination, to accurately observe the pregnancy.

How does the test take place?

The NIFTY Test requires only 10 ml maternal blood sample. Preparation, shipping and storage of samples are subject to strictly controlled conditions.

The result of the test

  • High risk (positive): This means that one of the chromosome aberrations tested is present in the fetus. The positive currency value of the syndrome varied (for example, over 97.5% for Down and Edwards syndrome). In this case, it is necessary to confirm the result with a sample of litter or amniotic fluid and with the aid of a chromosomal examination.
  • Low risk (negative): In this case, it is 99 percent that the fetus does not have the chromosomal aberrations tested. In this case, a diagnostic test is not required to confirm the result.

Sensitivity and specificity

The NIFTY test is characterized by high sensitivity (sensitivity) and specificity (specificity).

What is Sensitivity?

Sensitivity shows the value that the NIFTY test will have a positive value in a fetus with any of the three chromosomal aberrations:
  • For Down syndrome, it is 99.17 percent
  • Patau syndrome is 100 percent
  • Edwards syndrome is 98.24 percent

What does high specificity mean?

Specificity shows how reliably the NIFTY test identifies those who cannot detect any of the three chromosomal aberrations:
  • Down syndrome is 99.95 percent
  • Patau syndrome is 99.96%
  • Edwards syndrome is 99.95 percent

Could the NIFTY test fail?

You may need to repeat the test after the first NIFTY test within 2 percent. This can happen if the mother's blood did not contain enough fetal DNA. In this case, you can repeat the test for free. If no results can be obtained after retesting, a full refund of the test price may be requested.

When will the test result be ready?

The blood sample is taken after entering the laboratory 5-7. working day get the test results from the expectant mother.

There is free insurance for this test

This unique assurance provides a positive result for the NIFTY test, allowing the patient to continue to perform the required prenatal diagnostic tests without the need for a replacement test.You know!The full cost of the NIFTY test can be counted on your health cash register.

Where can I get the test?

The test is now available from a number of contracted partners in many locations in Hungary.

How much does the test cost?

The price of the NIFTY test is $ 50.
In case of twin pregnancy the price of the test is 167 000 Ft. Lecturer: Borbányi Krisnán Ágnes Olga, Senior Biologist, Center for Genetic Diagnostics, Nagymany and Family Design.Related articles:
  • Genetic Tests During Pregnancy: When Is It Obligatory When Is It Recommended?
  • Nifty test: a safe solution for filtering out anomalies
  • Fetal abnormality screening: to expect the baby