NIFTY – Fetal DNA testing

NIFTY, or Non-Invasive Fetal Trisomy, is a simple blood test that can identify disorders associated with an irregular number of chromosomes in the fetus including also chromosomal deletions and duplications, Unlike an amniocentesis prenatal examination, the NIFTY test poses no risk to the fetus or the mother.

The NIFTY test is available in two versions: NIFTY-Basic and NIFTY-Extended. NIFTY-Basic tests for the three most common syndromes and the sex chromosomes. NIFTY-Extended tests all 23 pairs of the fetal chromosomes and can also identify deletions and duplications. This extended test has successfully identified more than 40 syndromes thus far.

Extensive clinical trial have been conducted regarding the most common syndromes –Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13), and NIFTY has demonstrated a 100% sensitivity rate. Therefore NIFTY is defined as a screening test with an accuracy rate of over 99% for these syndromes. The accuracy rate of the NIFTY test regarding the less common disorders is still being studied and has yet to be determined.

NIFTY is conducted from the 10th week of pregnancy and onwards and is appropriate also for pregnancies with twins.

NIFTY is unable to check for or identify every potential fetal defect and it is therefore advisable to consult with your physician concerning the most appropriate and relevant tests for you.

Testing procedure

For the pregnant woman, NIFTY is just like any other blood test. The blood sample is drawn at one of the clinics that conducts the test and is sent to the BGI laboratories. Utilizing advanced technology, the labs analyze the free DNA found in the mother's blood, some 10% of which originates from the fetus. AML Israel handles the local logistical aspect of the testing.


  • What is NIPT or what is fetal DNA?

    Flowing through the mother's blood there is also some free DNA, some 10% of which originates from the fetus. This is fetal DNA. Using sophisticated technologies, this DNA can be analyzed for the purpose of identifying fetal abnormalities.
    The NIPT analyzes the fetal DNA.
  • For which syndromes does NIFTY test?

    NIFTY-Extended is the most comprehensive test of its kind and the only test that examines all 23 pairs of the fetal chromosomes. The test can identify syndromes caused by an irregular number of chromosomes or by chromosomal deletions or duplications (more than 40 syndromes have been identified thus far). NIFTY-Basic tests for the most common trisomies (Down syndrome, Edwards syndrome and Patau syndrome) and the sex chromosomes.

  • Is the NIFTY test accurate?

    BGI have conducted a series of clinical trials to determine the accuracy of the NIFTY test. These trials showed a 100% accuracy rate with regards to identifying fetuses with Down syndrome, Edwards syndrome and Patau syndrome. Nevertheless, due to the innovativeness of the test, and to be on the safe side, the test is currently defined as a screening test with an accuracy rate of above 99%. The accuracy rate of the NIFTY-Extended test regarding less common disorders is still being studied and has yet to be determined.

  • Does a NIFTY test replace an AFP test?

    The NIFTY test is significantly more accurate than an Alpha Fetoprotein test when it comes to identifying Down syndrome (Edwards syndrome and Patau syndrome, too). Thus, with regard to such conditions, the NIFTY test certainly can replace an AFP test. However, an AFP test can indicate risks associated with defects for which the NIFTY does not test, such as spina bifida. Therefore, it is advisable to carry out an AFP test even if one decides to undergo the NIFTY test.

  • Does the test require any preparation beforehand?

    The test does not require any preparation. Just please set an appointment ahead (1-700-700-880).

  • Where is the NIFTY test conducted?

    The blood sample is drawn at one of the certified clinics in Israel that come under the logistical management of AML Israel. The blood sample is then sent to the BGI research institute's clinical laboratories that work under the ISO/IEC 17025 quality control standard.

  • When is the NIFTY test carried out?

    The test can be carried out from week 10 of the pregnancy and through to the end of term. It is advisable, however, to conduct the test only up to week 24 so that the results can still be of benefit to the patient. You will need to consult with your physician to receive a referral for the test beyond week 24.

  • Why is the blood sample drawn on a specific day and at a specific time?

    As aforesaid, the blood samples are sent for analysis abroad; the testing times are therefore coordinated with the dispatch times.

  • Is the NIFTY test suitable for twin pregnancies?

    Yes, the NIFTY-Basic test (excluding the sex chromosomes) is suitable for twin pregnancies. Currently, the NIFTY-Extended test can only be conducted on single pregnancies.

  • What are chromosomal deletions and duplications?

    These are extremely rare phenomena in which a portion of a chromosome is missing (doesn't exist) or has been duplicated (appears more than once – usually twice). The deleted or duplicated portion, depending on its size, causes various disorders. The NIFTY-Extended test can identify deletions and/or duplications.

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