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 trisomy?

    Every cell in our bodies contains 23 pairs of chromosomes - pairs 1 to 22, plus a pair of gender chromosomes (in females - two X chromosomes; in males - one X chromosome and one Y). Each pair is made up of one chromosome from the father and one chromosome from the mother. In rare instances, one of the parents passes on to the fetus two chromosomes instead of one such that the fetus ends up with three chromosomes of a particular type rather than the normal pair. This is known as trisomy. It occurs only at conception and thus there are no genetic tests that could foresee such a condition prior to the pregnancy. The most common trisomy occurs with chromosome 21 and causes Down syndrome.

  • What are the major advantages of NIFTY fetal DNA testing?

      • Based on clinical trials, NIFTY is the most accurate test of its kind.
      • NIFTY-Extended is the most comprehensive test of its kind and the only test that examines all 23 pairs of the fetal chromosomes. Thus far, the test has identified more than 90 syndromes.
      • NIFTY is a noninvasive test that poses no risk to the mother or the fetus and can be done as early as the 10th week of the pregnancy.
      • The NIFTY test is conducted at BGI laboratories, the most sophisticated and experienced laboratories of theis kind in the world.

    • 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 amniocentesis?

      An amniocentesis is carried out between week 16 and week 20 of the pregnancy. In addition, an amniocentesis is an invasive test involving a certain degree of risk for both the mother and the fetus. In Israel, every woman who undergoes an amniocentesis is required to sign a consent form that states that 0.5% of such tests result in miscarriages (studies show varying rates for this estimate). An amniocentesis can test for a large number of defects stemming primarily from an irregular number of chromosomes (with Down syndrome the most common), as well as other changes in the chromosomal makeup. Furthermore, an amniocentesis allows for identifying tiny changes in chromosomes by means of "genetic chip" analysis.

      Conducted from the 10th week of pregnancy and onwards, the NIFTY test is noninvasive and poses no risk to the mother or the fetus. Nevertheless, the NIFTY test does not check for all the rare genetic defects that are tested for in an amniocentesis. Thus, the NIFTY does not come to replace an amniocentesis, but instead allows women, particularly those who do not want to undergo an amniocentesis, to perform a simple blood test to identify, with a very high degree of accuracy, Down syndrome, Edwards syndromePatau syndrome and more.

    • 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.

    • Do the HMOs (Maccabi, Meuhedet and Clalit) and private insurance companies cover some of the cost?

      Currently, some HMOs and private insurers partially cover the costs of the NIFTY test. We advise all women to consult on the matter with their insurers.

    • When are the results available?

      In general, results are received within ten days. Very rarely technical reasons may require retesting. Obviously, in such rare instances results may be delayed further.

    • 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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