Frequently Asked Questions

NIFTY-Basic tests for the most common trisomies (Down syndrome, Edwards syndrome and Patau syndrome) and the sex chromosomes. NIFTY-Extended in addition tests all 23 pairs of the fetal chromosomes and can also identify duplications or deletions (NIFTY-Extended has successfully identified more than 90 syndromes thus far).

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.

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.

The NIFTY test checks the fetal DNA for an irregular number of chromosomes by means of counting the millions of fetal DNA molecules. The technology employed to do the counting is known as Next Generation DNA Sequencing.

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.

• 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.

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.

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.

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 syndrome, Patau syndrome and more.

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.

The NIFTY test does not replace these tests as it does not test for all the defects covered by such examinations.

In all instances, it is advisable to consult with your physician to determine which tests would be most appropriate for you.  The test is inadvisable in the event that one of the parents is known to suffer from chromosomal translocations or any other chromosomal structural disorder. A recent blood-transfusion should be stated when scheduling an appointment.

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.

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

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.

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.

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

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.