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Non-invasive prenatal testing (NIPT) is a screening test to determine the common chromosomal abnormalities of the fetus, which can lead to various complications during pregnancy, such as malformations, delayed psychomotor development, and social maladjustment of the child.
The analysis is performed on the mother’s DNA and the fetal DNA, which are both extracted and analyzed from a blood sample. NIPT is done from the 10th week of pregnancy, and helps to avoid invasive procedures (amniocentesis, chorionic villus sampling, or cordocentesis) associated with a risk to the woman and the fetus. Non-invasive prenatal testing is possible both for singleton pregnancies and for twins. The research result is available in almost 6-10 working days.
Each chromosome has a pair. Healthy people have 23 pairs, one pair of which is sex. Men have sex chromosomes XY, women have XX. Non-invasive prenatal testing identifies a missing or an extra chromosome, i.e., “aneuploidy”, which leads to congenital malformations, as well as disorders of psychomotor development of varying severity. The NIPT provides an opportunity to diagnose abnormalities of all chromosomes without exception.
Non-invasive prenatal testing provides the most accurate information about possible chromosomal abnormalities. It is not limited to risk assessment and can not provoke complications associated with invasive methods. In addition, the NIPT makes it possible to definitely diagnose abnormalities of all chromosomes; determines the genetic sex of the child; has the lowest incidence among similar tests; guarantees a short time to get a result.
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Non-invasive prenatal testing results make it possible to assess the possible presence of abnormalities of chromosomes 21, 18, 16, 13, 9, sex (X and Y), as well as microdeletions. In case of a positive result, a genetic consultant will discuss with you the significance of the data obtained and determine the optimal strategy for further pregnancy management. The decision to terminate the pregnancy can not be based solely on the NIPT results.
No test can give an absolute guarantee that your child will not have any genetic health problems. The effectiveness and accuracy of the NIPT has been confirmed by several broad clinical studies worldwide. The results obtained have been independently reviewed and verified. For chromosome 21, the accuracy of determining aneuploidies is 99.49%.For other chromosomes – not less than 97.23%. For microdeletions – 91.6%.
Non-invasive prenatal testing (NIPT) is a new way to easily, quickly and accurately provide the Intended Parents with important information about the health of their unborn child even in the first trimester of pregnancy. Moreover, it is absolutely safe for both the mother and the child. A screening test is recommended in case of an increased risk of fetal chromosomal abnormalities as an additional research tool for the following indications: