NIPT - Fetal Chromosomes from Mothers Blood Sample

What is NIPT?

NIPT can be used to detect the most common chromosomal abnormalities that cause developmental disorders in the fetus from a blood sample taken from the mother. These include trisomes 21, 18 and 13 and abnormal numbers of gender chromosomes X and Y (e.g. Turner’s syndrome).

The NIPT study indicates the probability of fetal chromosomal aberration, which means the study is not diagnostic.

At what stage of pregnancy is NIPT test taken?

A blood sample can be taken from week 10 of pregnancy, when fetal placental DNA is released into the mothers bloodstream. As placental size increases, so does the amount of genetic material, so it is important to verify the duration of pregnancy by ultrasound before sampling. In general, the study is recommended after the first combination screening (ultrasound examination and blood sample).

Mothers significant obesity can result in insufficient cell-free DNA and no response at all, especially in the early weeks of pregnancy.

Is the examination dangerous for the baby?

No. The examination is conducted from a blood sample taken from the mothers veins so there is no need to perform fetal interventions, as in placental and amniotic fluid studies.

In what circumstances can the NIPT study be conducted?

The NIPT test is performed in situations where suspicion of a possible fetal chromosomal abnormality has arisen. This may be influenced by the age of the pregnant mother, abnormal findings in the serum sample of the combination screening or ultrasound examination, or chromosome abnormalities in previous pregnancies.

Research is also possible in twin pregnancies and pregnancies undertaken with donated eggs.

Does the study reveal the gender of the baby?

If the parents so wish, the gender can be determined in the study. In a twin pregnancy gender determination is limited.

How fast can the results of the study be obtained?

Responses are usually received within approximately one week of taking the sample, at the latest within two weeks.

Abnormal result – what’s next?

An abnormal result in a blood sample is always confirmed by a placental biopsy or amniotic fluid sample. Abortion can never be done on the basis of a NIPT result alone. It is important to get in touch with your midwife or doctor as soon as you receive an abnormal response.

Can NIPT fail?

The study is reliable, but there is a low risk of false outcome, possibly influenced by factors such as maternal obesity, illnesses, certain medicinal drugs, organ transplants, and the death of one fetus in a twin pregnancy. All laboratory tests also have a small risk of a false outcome due to possible technical problems.

The test results are normal; does it mean my baby is healthy?

NIPT studies can only investigate the risk of certain chromosome aberrations, not other fetal chromosome disorders. A normal test result is not a guarantee of a healthy baby, so it is important for the expectant mother to participate in the combination screening study as well.

The NIPT test does not examine the health of the mother either.

Is it necessary to have another ultrasound examination in addition to the NIPT examination?

Yes. NIPT does not replace combination screening during the first trimester of pregnancy. Ultrasound research provides a lot of information in addition to a blood sample: fetal vital signs and number, abnormal structures (neck fold thickening) and location of pregnancy.

How much does NIPT test cost?

The cost of the test is 680 €.

What do I do, if I want to be tested?

Contact us to make an appointment and we will arrange a suitable time for you to see the midwife, where the aspects of the examination will be carefully reviewed. At the same time, the midwife will confirm the duration of pregnancy by ultrasound examination. If you wish, you can obtain the customer instructions and the delivery form in advance from our office to ensure that you have time to carefully review them prior to the sampling and ultrasound examination. It is important that you have internalized the information about the study, understand its significance, and its limitations. Our doctor will sign the referral for examination.

Sampling is scheduled for early in the week (Mon-Wed) so it will make it to the laboratory to be tested during the same week.