BioNews - Fetal DNA scanned for disease: The complex procedure involved sequencing almost four billion DNA molecules from the pregnant mother's blood sample and separating the fetal DNA strands buried deep within it. They were then able to piece together a genome-wide genetic map of the fetus by using the genetic maps of both the parents, which highlighted places where the inherited DNA differed in the fetus.
Finally, the completed fetal genetic map was scanned for genetic disorders and researchers found that the baby had inherited the beta-thalassemia mutation from the father, and was therefore a carrier of the disease. 'Our study suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders pre-natally in a non-invasive way', the researchers said.
At the moment, prenatal testing of genetic diseases relies on invasive methods, which require taking a tissue sample from the placenta (CVS) or removing amniotic fluid from the womb (amniocentesis) with an injection. These techniques involve a one percent risk of triggering a miscarriage or infection and are therefore only carried out in cases where the probability of disease is high.
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