Description
From the very 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 conduct NIPT, and venous blood can be donated to determine the baby's genetic health.
The test examines embryonic-placental extracellular DNA isolated from maternal plasma starting from 9 weeks of gestation. Panorama offers a personalized risk assessment showing whether the child is at risk of developing a genetic disease. The study allows suspecting 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 their definitive diagnosis even if a high risk is detected. 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. False-positive results can be caused by maternal chromosomal anomalies or a malignant neoplasm in the mother. 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 is less than 10 weeks at the time of blood sampling;
multiple pregnancy (three or more fetuses);
spontaneous reduction of one child from twins ("vanishing twin");
bone marrow transplantation;
the result will not be informative if maternal blood cells and oocytes do not have 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 erroneous sample identification.
Test results should always be interpreted by a clinician in the context of clinical and familial data, with the possibility of genetic counseling when necessary.
No more than two blood samplings are possible per order (primary sampling and resampling).
In some cases (less than 1%), upon re-examination, it is not possible to determine the risk for chromosomal pathologies as high or low in patients with a sufficient fetal fraction. In such cases, a conclusion is issued.
The result of the study is the conclusion of a geneticist; in the case of issuing a conclusion per order, the study is considered completed in full.
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)