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Tests based on analysis of fetal DNA
Advantages of testing based on fetal DNA analysis
As early as 10 weeks of pregnancy, the level of fetal DNA concentration is high enough for analysis. This allows testing to be performed early in pregnancy. Importantly, the half-life of cffDNA is about half an hour and it is removed from the mother's blood shortly after birth. It is therefore specific only to a given pregnancy. The great advantage of fetal DNA analysis is the non-invasiveness of the method while obtaining a highly sensitive result. Until now, it was necessary to take samples from the immediate vicinity of the fetus to obtain high sensitivity. As with any intrusion into the body, this involved a small risk of complications, including pregnancy loss. In contrast, the fully safe screening tests that were previously available were often associated with unnecessary referral of patients for amniocentesis due to their lower sensitivity.
Use of fetal DNA analysis
Fetal DNA analysis has invaluable applications in the prenatal diagnosis of fetal genetic defects and is a novelty here, distinguished above all by its complete safety and high sensitivity. Previously available screening tests based on analysis of the mother's blood (e.g., PAPP-A tests) are not as sensitive and women were referred for diagnostic tests to confirm the diagnosis. Prenatal tests that use the isolation of fetal DNA from the mother's blood have a sensitivity of more than 99% for detecting the common trospomies - Down's, Edward's and Patau syndromes. They additionally allow precise determination of the baby's sex and determination of suspected other defect related to the number of chromosomes.
Fetal DNA analysis is also used in the detection of sex-linked diseases and in the selection of a group of women who require close monitoring by a doctor due to a serological conflict. In the case of a conflict, the mother's antibodies can pose a threat to the fetus and cause hemolytic disease.
Fetal DNA analysis also makes it possible to conduct a paternity test even before the baby is born. Blood is then drawn from the mother and the alleged father and the presence of 317,000 genetic markers of the mother, fetus and male is tested. As a result of advanced analysis, a reliable and conclusive result is obtained even after 10 weeks of pregnancy. Again, the use of fetal DNA is a safe alternative to previously available tests performed during prenatal diagnosis - based on amniotic fluid or a chorionic villus fragment.
Tina Pysiewicz
testDNA Laboratory Ltd.