Prenatal Screening Tests / NIFTY (NIPT)

What Is the NIFTY Test?

The NIFTY test is an advanced screening test performed during pregnancy on a blood sample taken from the expectant mother in order to assess the baby’s genetic health. Known in medicine as NIPT (Non-Invasive Prenatal Testing), this method is based on analyzing fragments of the baby’s DNA circulating in the mother’s blood.

The NIFTY test allows certain chromosomal abnormalities — above all Down syndrome (Trisomy 21) — to be screened for at an early stage with a high accuracy rate. Its most important feature is that it can be performed without posing any risk to the mother or the baby. Offering more sensitive results than conventional screening tests, the NIFTY test has become one of the frequently chosen methods in pregnancy follow-up in recent years; it serves as an important assessment tool particularly in high-risk pregnancies and in expectant mothers of advanced age.

The NIFTY test is a genetic screening test carried out by analyzing cell-free fetal DNA (cffDNA) fragments present in the mother’s blood. Through this test, information about the baby’s chromosomal make-up is obtained and the risk of certain genetic conditions is evaluated. The NIFTY test is non-invasive, safe for mother and baby, and can be performed in the early weeks of pregnancy.

How and When Is the NIFTY Test Performed?

The NIFTY test is carried out in a very simple and safe manner. The process: blood is drawn from a vein in the expectant mother’s arm, the sample is sent to the laboratory, the baby’s DNA fragments in the maternal blood are isolated, they are examined using advanced genetic analysis methods, and the results are reported.

Only a blood draw is involved; there is no pain or risk, and no hospital stay is required. The NIFTY test is far safer than invasive procedures such as amniocentesis, because there is no intervention inside the uterus.

The NIFTY test can generally be performed in the early stages of pregnancy, from the 10th gestational week onwards. Being applicable at an early stage is an important advantage. Performing the test at the right time matters for the reliability of the results obtained.

Which Conditions Does the NIFTY Test Detect?

The NIFTY test evaluates the baby’s chromosomal make-up and determines the risk of certain genetic conditions. The conditions screened most often are: Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and sex chromosome abnormalities.

Rather than establishing a definitive diagnosis, this test performs a risk assessment; it identifies risk but does not confirm a diagnosis. Results may therefore be supported with further testing when necessary.

The NIFTY test is today among the prenatal screening tests with the highest accuracy rates. For certain chromosomal abnormalities such as Down syndrome in particular, it can offer an accuracy rate approaching 99%. There is, however, one important point to remember: the NIFTY test is a screening test, not a diagnostic test. It brings suspicious situations to light at an early stage; if the result comes back high risk, advanced diagnostic methods such as amniocentesis may be recommended.

Who Should Have the NIFTY Test, and for Whom Is It Not Recommended?

The NIFTY test can in fact be performed for any pregnant woman who wishes. It is, however, particularly recommended in the following situations: pregnancies at age 35 and over, high-risk results on the first-trimester combined screening test, a family history of genetic disease, and a previous pregnancy affected by a chromosomal abnormality.

In certain special circumstances the test may not be suitable or the results may be affected. Unsuitable situations include: very early gestational age, some multiple pregnancies (special cases), and insufficient fetal DNA. In these situations the physician’s assessment is important.

The Difference Between the NIFTY Test, First-Trimester Combined Screening and Amniocentesis

The NIFTY test and the first-trimester combined screening test evaluate risk using different methods. Combined screening is performed with ultrasound and a blood test and has a lower accuracy rate. The NIFTY test, by contrast, is based on DNA analysis in maternal blood and offers a higher accuracy rate; for this reason the NIFTY test stands out as a more sensitive screening method.

The NIFTY test and amniocentesis are often confused, but there are important differences between them. The NIFTY test is a screening test, carries no risk, and is performed on maternal blood. Amniocentesis, on the other hand, is a diagnostic test, involves entering the uterus, and carries a miscarriage risk, however small. The NIFTY test is used to identify risk, whereas amniocentesis is performed to establish a definitive diagnosis.

When and How Are NIFTY Test Results Interpreted?

NIFTY test results are usually ready within 7–10 days; the timeframe may vary depending on laboratory workload. The results are reviewed by the physician and communicated to the patient.

NIFTY results are generally reported as “low risk” or “high risk.” Low risk indicates that the likelihood of a chromosomal condition is small, and additional testing may not be needed. High risk indicates an elevated risk of chromosomal abnormalities, and advanced tests such as amniocentesis are recommended for a definitive diagnosis. A physician’s assessment is essential for the results to be interpreted correctly.

What Are the Advantages and Limitations of the NIFTY Test?

The main advantages of the NIFTY test: it carries no risk for mother or baby, can be performed early in pregnancy, has a high accuracy rate, requires no invasive procedure, and provides a reliable risk assessment.

As with any test, the NIFTY test also has certain limitations: it does not provide a definitive diagnosis, it may not detect some rare conditions, and additional testing may be required after high-risk results.

The NIFTY test is not harmful: only a blood sample is taken, it poses no risk to mother or baby, and it involves no invasive procedure. Although it has a high accuracy rate, incorrect results can occur rarely — a false positive (risk appearing to be present) or a false negative (a risk being missed). Questionable results must therefore always be confirmed with further testing.