Among the most advanced methods in medical technology of the latest generation stands out NIPT (Non-Invasive Prenatal Testing), a non-invasive prenatal test, which provides deeper insights into the health of the child before birth. This technology is increasingly used worldwide and revolutionizes the prediction and understanding of potential genetic conditions of the fetus.
In this post, we will provide you with an insight into how this test works, its limitations and advantages, and how it affects your pregnancy and the future of your family.
What is Non-Invasive Prenatal Testing (NIPT)?
NIPT analyzes the DNA (genetic material) of the baby isolated from the mother’s blood. In this way, the genetic material of the baby is analyzed with the possibility of identifying various chromosomal aberrations, such as trisomies, aneuploidies of sex chromosomes, as well as microdeletions (structural) disorders on chromosomes.
The most important syndromes that can be detected by prenatal testing are Down syndrome, Patau syndrome, and Edwards syndrome. The prenatal test can also determine the sex of the baby.
How is the test performed?
The test is very comfortable for the pregnant woman – it involves a simple blood test (sampling of 10-20ml of venous blood – one tube).
When is the test performed?
The test is done after the completion of the 10th week of pregnancy. Blood sampling is preceded by an ultrasound examination by a gynecologist to determine the size of the fetus, which is necessary to assess the appropriate timing for the test. Of course, a normal ultrasound finding is a prerequisite for performing the test. Any suspicion of fetal abnormalities is a contraindication for non-invasive prenatal testing. The pregnant woman is then referred for other diagnostic procedures.
Prenatal test results
The test results are formulated to be easily understandable to the patient and are expected within 10 working days after sampling. In case of any doubts, the results can be interpreted together with the attending gynecologist or geneticist.
A negative test result means that there is no evidence of the presence of the tested disorders. The accuracy is 99%, making the test very reliable.
A positive test result provides information about the probable presence of one of the chromosomal disorders in the baby, but the likelihood of the test result actually being positive largely depends on the age of the pregnant woman and other risk factors. A positive NIPT result must therefore always be confirmed by invasive diagnostics – amniocentesis or chorionic villus sampling.
Which analyses does the Sequentia prenatal test offer?
The Sequentia prenatal test offers a wide range of analyses and is one of the most comprehensive of its kind on the market. In addition to the already mentioned trisomies, sex chromosome aneuploidies, microdeletions, and duplications that the test detects, the Sequentia palette also offers the possibility of identifying the Rh D factor of the baby in pregnancies where the mother is a carrier of a negative Rh D factor, and the father is a carrier of a positive one. For pregnant women with Rh-negative blood type, information about the Rh factor of the baby during pregnancy is very important, as it can help avoid the use of anti-D prophylaxis on one hand, and on the other hand, it can detect the risk of developing hemolytic disease of the fetus and newborn.
In the expanded offering of the Sequentia prenatal test, there is the possibility of analyzing both inherited and non-inherited diseases, which are analyzed directly on the fetus, unlike most tests that examine parents as carriers of mutations.
With each selected panel of the Sequentia test, it is possible to perform an analysis for spinal muscular atrophy for both parents. This way, parents can determine whether they are carriers of mutations responsible for this disease and whether there is a risk of transmitting it to their offspring.
The test can also be applied in twin pregnancies (including “vanishing twin”), but with limitations in the analysis of microdeletions and sex aneuploidies.
How to schedule and perform prenatal testing?
The entire procedure is very simple:
- Call our Call center to schedule a consultation with a gynecologist.
- When you decide to perform the test, come for an ultrasound examination, after which the blood necessary for the analysis will be drawn.
- If you opt for the option that includes inherited diseases, an additional sample of buccal swab (swab of the inner cheek) of the biological father of the child, or a sample of venous blood in an additional tube will be taken.
- The results are expected within 7 to 10 working days from the sampling and are sent, in agreement with the gynecologist, by mail or email. Genetic counseling is also available as part of the result interpretation.
