Description
From the first weeks of pregnancy, fragments of the child's DNA appear in the woman's bloodstream. By the 10th week, a sufficient amount of DNA circulates in the mother's blood to perform NIPT, and venous blood can be drawn to determine the baby's genetic health.
The test examines embryonic-placental cell-free DNA isolated from maternal plasma from 10 weeks of gestation. Panorama offers a personalized risk assessment that shows whether the child is at risk of developing a genetic disease. The study allows suggesting certain disorders and syndromes and then, knowing about them, conducting timely treatment of the born child. It should be noted that this is a screening test, meaning a diagnosis cannot be made based on its results. It assesses the probability of the most common chromosomal pathologies but does not allow for unequivocal diagnosis even with an identified high risk. The result of this test is not a diagnosis, but merely a statistical probability figure.
The test is not suitable for certain multiple pregnancies (three or more fetuses), as well as for those with a history of bone marrow transplantation. Maternal chromosomal anomalies or a malignant neoplasm in the mother can lead to a false-positive result. Also, different genotypes of the fetus and placental trophoblast, placental mosaicism, or fetal mosaicism can lead to false results.
Limitations under which NIPT cannot be performed:
gestational age by ultrasound less than 10 weeks at the time of blood sampling;
multiple pregnancy (three or more fetuses);
spontaneous reduction of one twin ("vanishing twin");
bone marrow transplantation;
the result will not be informative if maternal blood cells and oocytes do not share the same genetic origin, for example, in the case of an egg donor or surrogate mother;
potential sources of false results include, but are not limited to, mosaicism, low fetal fraction, limitations of existing diagnostic methods, or sample misidentification.
Test results should always be interpreted by a clinician in the context of clinical and family data, with the possibility of genetic counseling when necessary.
No more than two blood draws are possible per order (primary draw and redraw).
In some cases (less than 1%), upon re-examination, in patients with sufficient fetal fraction, it is not possible to determine the risk for chromosomal pathologies as high or low. In such cases, a report is issued.
The result of the study is a conclusion by a geneticist; in case of issuing a conclusion for the order, the study is considered fully completed.
Period of execution
Within 19 days. The specified time does not include the day of biomaterial collection
Biomaterial type
- Venous blood
- Venous blood (NIPT kit)