NIPT MGiEASY 4 (trisomies of chromosomes 22, 21, 18, 16, 13, and 9 + X, Y aneuploidies)

Description

MGiEasy 4 – a non-invasive prenatal test (NIPT) for the detection of trisomies of important chromosomes, including 21, 18, 13, 16, 9, and 22, as well as sex chromosome aneuploidies. It is performed by direct analysis of cell-free fetal DNA in a pregnant woman's blood. Unlike basic NIPTs, which determine only a few common trisomies, MGiEasy 4 covers a wider spectrum of abnormalities, including not only trisomies 21, 18, and 13, but also additional important chromosomes (9, 16, 22) and sex chromosome aneuploidies. This is especially important, as many of these abnormalities can have a significant impact on the child's health and development, and early diagnosis gives parents the opportunity to prepare for potential medical needs.

The test examines embryonic-placental cell-free DNA extracted from maternal plasma. It assesses the risk of a genetic disease in the child. The study makes it possible to suggest certain disorders and syndromes, and subsequently, by being aware of them, to provide timely treatment for the born child. It should be taken into account that this is a screening test, meaning a diagnosis cannot be established based on its results. It assesses the probability of chromosomal pathologies, but does not allow for their definitive diagnosis even if a high risk is detected. The result of this test is not a diagnosis, but only a statistical probability figure. The test is performed from the 10th week of pregnancy. The method is suitable for both singleton and multiple pregnancies.

Prenatal genetic testing assesses the risk of chromosomal abnormalities. If there is a risk of disorders, one can be prepared for the diagnosis and take care in advance to ensure specialized support and medical care for the child. With current medical capabilities, a sufficiently high quality of life is possible for many congenital pathologies.

Detection of an increased risk of developmental defects in the child is not a diagnosis. False-positive results are possible.

Investigation of sex chromosome aneuploidies, as well as determination of the future child's sex, is possible provided that it is a singleton pregnancy and at the patient's request.

Test limitations:

- gestational age must be at least 10 full obstetric weeks and no more than 32 weeks;
- in the case of a confirmed "vanishing twin" syndrome (death of one fetus in an initially multiple pregnancy at an early stage), it is not recommended to perform the test earlier than one month after detection, as there is a high probability of an indeterminate result;
- the test is contraindicated for patients with oncological diseases or a history of malignant neoplasms;
- the test is contraindicated if the patient has had a blood transfusion, organ and tissue transplantation, including bone marrow from a man (or if the donor's sex is unknown), or stem cell treatment within the last 3 months;
- if the patient is receiving low-molecular-weight heparin, it must be administered after the blood draw so that its concentration in the blood is minimal;
- sex aneuploidies are not determined in the case of twins and vanishing twin syndrome;
- a relative limitation of the test is a body mass index (BMI) over 30 in the patient; it is recommended to perform the test after 10 weeks of pregnancy;
- the test is not intended and has not been clinically validated for the detection of mosaicism, partial trisomy, or translocations.