Free fetal DNA testing

Free fetal DNA testing-what is it?

Free fetal DNA (cffDNA) testing, or Non Invasive Prenatal Testing (NIPT- Non Invasive Prenatal Testing), involves analyzing fetal DNA present in the mother’s blood. The genetic material penetrates the woman’s bloodstream and becomes a component of the free extracellular DNA of the mother-to-be. It appears there around 7. week of pregnancy and disappears immediately after delivery.

Non-invasive prenatal testing is completely safe and carries no risk to either the pregnant woman or the developing baby. The free fetal DNA test is designed to detect possible genetic defects and diseases in the baby. They are classified as screening for chromosomal aberrations.

Tests for dozens of diseases are performed during the study. This number may vary depending on the package or manufacturer chosen, of which there are more and more on the Polish market. They point out that the sensitivity of the test is comparable to invasive tests, which are among the diagnostic tests performed during pregnancy (such as amniocentesis).

It is important to note that NIPT genetic testing does not replace first trimester screening for ultrasound evaluation and biochemical tests, which are performed according to PTGiP recommendations.

Free fetal DNA test-when to perform?

Non-invasive prenatal tests are among the unreimbursed tests, which is currently associated with a rather high cost for future Parents. Any mother-to-be, if she wishes, can take a free fetal DNA test. Manufacturers recommend performing them especially when there are specific indications to do so. These include:

• The indirect risk obtained in the composite test, i.e., 1:300-1:1000 (in the 1st trimester study),
• The presence of genetic defects in previous pregnancies,
• The woman’s age above 35. year of age,
• in vitro fertilization,
• contraindications to invasive diagnostics

The free fetal DNA test is performed between 10. a 24. week of pregnancy. It is advisable to consult a gynecologist, perinatologist or geneticist before performing NIPT, who will describe what the test is about, its advantages and limitations.

The course of the free fetal DNA test

Non-invasive prenatal testing is based on analysis of the baby’s DNA circulating in the mother’s blood. For this reason, it is necessary to collect the pregnant woman’s venous blood for the test in the same way as for other tests routinely performed during pregnancy. After collection, the sample is transported to a laboratory, which is usually located abroad. There is a wait of several to several days for the result, depending on the manufacturer.

What diseases does the free fetal DNA test detect?

Non-invasive prenatal testing detects dozens of diseases. These figures vary depending on the package or manufacturer selected. The diseases detected are genetic defects associated with abnormal chromosome structure, such as. DiGeorg syndrome or Angelman syndrome.

All free fetal DNA tests also detect the most common types of trisomies, including. Down syndrome (trisomy of chromosome 21), Edwards (18) or Patau (13). It is also possible to identify diseases associated with sex chromosome abnormalities, among others. Klinefelter’s syndrome and Turner’s syndrome. The free fetal DNA test, at the request of the Parents, also informs about the sex of the child.

If the result of the non-invasive test is positive for any defect, further invasive diagnostics such as amniocentesis is indicated. Many manufacturers also include insurance against false results in their packages and reimburse Parents or cover the cost of further diagnostics if they occur.

Genetic diagnosis from cord blood

Nowadays, many Parents choose to collect cord blood and store stem cells. By doing so, he ensures a secure future for his child. It is also possible to test for a number of genetic diseases immediately after birth, from cord blood, and respond quickly enough. Such possibilities are provided by the PlumCare DNA Advisor Solo test, in which a child’s genome is examined for predisposition to nearly 300 diseases.  The free fetal DNA test detects chromosomal defects related to their abnormal number or structure, while PlumCare DNA Advisor tests for predisposition to genetic diseases and mutations of specific genes. For this reason, despite the NIPT test performed by Parents during pregnancy, it is worth opting for PlumCare at the time of cord blood collection.

Want to know more details about PlumCare Advisor DNA Solo read the story of Maks, Ania and Michael.