Pregnancy is a period full of excitement as well as curiosity for expectant mothers. One of the most important concerns during this time is the baby’s genetic health. While traditional screening tests (double, triple, and quadruple tests) give us risk percentages, today we can go one step further. Thanks to modern medical technologies, we no longer need only invasive (needle-based) methods to evaluate the baby’s chromosomal structure. The fetal DNA test in maternal blood (NIPT) is a safe and modern screening method that provides highly accurate information about the baby’s genetic health.

What Is the Fetal DNA Test (NIPT)?

During pregnancy, fragments of the baby’s DNA pass from the placenta into the mother’s bloodstream. By analyzing this DNA in the laboratory, a risk assessment can be made for certain chromosomal abnormalities in the baby.. It is a method used to analyze the baby’s genetic material (cell-free fetal DNA) using a simple blood sample drawn from the mother’s arm.

This test:

• Is performed with a simple blood sample taken from the mother’s arm.
• Does not cause any harm to the baby or the pregnancy.
• For this reason, it is called a “non-invasive prenatal test” (NIPT).
• Allows evaluation of all chromosomes and even microdeletions.

Important Note: NIPT is a screening test, not a diagnostic test. In the case of positive results, confirmatory invasive tests such as chorionic villus sampling (CVS), amniocentesis, or cordocentesis may be required.

When Is the Test Performed?

The test can be performed from the 10th week of pregnancy onward. After this week, the fetal fraction (the proportion of baby’s DNA in the mother’s blood) reaches an adequate level. In pregnancies involving medications such as heparin, blood is drawn for the test after the medication is paused. The patient can then resume medications and treatment. The results generally come out within 5–10 days.

What Can We Learn About Your Baby with Just One Blood Sample?

All chromosomes, including fetal sex chromosomes, can be evaluated. In our country, fetal sex can only be reported when related to medical, sex-linked conditions. Some companies offer broader panels such as microdeletion screening, but the clinical value of these expanded tests is not always clear. Therefore, the selection of the panel should always be evaluated together with a specialist.

Advantages of the Test

• Safe: Performed using maternal blood, with no intervention to the baby.
• High Accuracy: Provides up to 99% accuracy, especially for Down syndrome.
• Easy to Perform: No fasting is required; giving a blood sample is sufficient.

Limitations

It is important to accurately express the scientific reality:

• It is not a diagnostic test: A high-risk result does not mean the baby definitely has that condition. Positive results must be confirmed by amniocentesis.
• In very obese mothers, multiple pregnancies (except identical twins), or some IVF pregnancies, fetal DNA levels may be low. In such cases, the test may need to be repeated.
• Placental mosaicism may rarely cause false results.

Who Is It Especially Recommended For?

• Pregnant women aged 35 and older
• Those with high-risk results in double/triple screening tests
• Low-risk women who still feel anxious: Any expectant mother who wants a more definite result but does not want the risk of amniocentesis
• Fetuses with anomalies seen on ultrasound
• Women with a history of chromosomal anomalies in previous pregnancies
• IVF pregnancies (evaluated together with the physician)

Who Cannot Take This Test?

• Pregnancies under 10 weeks
• Multiple pregnancies where one fetus has demised
• Multiple pregnancies (triplets or more)

Conclusion

The fetal DNA test performed using maternal blood is an easy, safe, modern, and effective screening method for evaluating chromosomal abnormalities during pregnancy. However, like all tests, it must be interpreted correctly. Test results should always be evaluated by your obstetrician together with the ultrasound findings of the pregnancy.

At every step concerning your baby’s health, accurate information and guidance from your physician are the most valuable approach.