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Non-invasive prenatal diagnosis

June 25 2014
< p style = "text-align: left;"> According to statistics, the number of babies who have an innate genetic pathology ylAnd some of them together make up about 5%. For most parents, the birth of a child with a genetic disease becomes a huge and terrible surprise, entailing a radical change in the whole way of life and worldview. Identify the risk of predisposition and the disease itself can be during pregnancy, analyzing DNA (the carrier of genetic information throughout the unborn child). But the most commonly used diagnostic methods (biochemical, ultrasound) allow only assume the development of pathology, and not to establish an accurate diagnosis. In order to establish an accurate diagnosis is necessary fence and analysis of biological material (amniocentesis or biopsy), which allows aaccurately identify the development of chromosomal abnormalities and genetic diseases. But, unfortunately, such a study is a threat of miscarriage. Therefore, in recent years, is used for genetic research technique, the so-called non-invasive prenatal diagnosis (NAP). For genetic evaluation of the mother's blood is used inwherein fetal DNA fragments are present. The study of these fragments are distinguished from the blood and thereafter is made complete analysis (sequencing) by using a mathematical algorithm. As a result of the NAP, the opportunity to be reliably identified the following genetic diseases (syndromes):
Patau, Edwards, Downand, Turner, Klinefelter,   Di Giorgio, Angelman, « cat's cry & raquo ;, Prader-Willi syndrome.
NAP to determine genetic disorders without the risk of miscarriage.

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