In Israel, began to be used an innovative method of diagnosis of genetic abnormalities in the fetus, with high accuracy and without risk to the pregnancy research. Thanks to this technology, doctors still in the early stages of pregnancy can detect such severe diseases as Down's syndrome and other dangerous birth defects.
The traditional method of diagnosing chromosomal abnormalities is amniocentesis. However, it often creates a lot of side effects, and including a risk of miscarriage. Therefore, such invasive investigation is prescribed only in exceptional cases at high risk of fetal abnormalities. The accuracy of the analysis of the amniotic fluid is from 60 to 90%. At the same time, the accuracy of the new blood test in detecting major chromosomal abnormalities close to 99%, with almost no associated risks. Doctors are hoping that in the near future it will replace the traditional study of amniotic fluid.
The technique has some limitations on the application, since incorrect results can be observed in multiple pregnancy and in women who received donated eggs and those who have had prior bone marrow transplant.
Analysis is carried out for a fee. The cost ranges from 1100 to 1700 US dollars. Health insurance companies cover only part of that amount, depending on the type of insurance.
The most common disease that the new technique is able to identify - Down syndrome. He meets with an average rate of one case per 1100 pregnancies. For these children, characterized by a specific appearance: a shortened skull, flattened face and Mongoloid eye shape. In all children with this syndrome develop mental retardation, lung cases and to quite severe. Also, in 40% of patients with diagnosed heart disease, and 8% - congenital leukemia.
Almost all men with Down syndrome are infertile, and half of women can still have children. But he, too, with 30 - 50 percent probability born with chromosomal abnormalities. Previously, people with Down syndrome to live about 25 years. But thanks to modern medical technology the average life expectancy have increased to 50 years.
She also pathology, which can be prevented with the help of a new analysis - Edwards syndrome. It occurs with a frequency of one case for every 6,000 pregnancies. For those suffering from this disease is characterized by abnormalities of the skull structure, malformations of the heart and major blood vessels, as well as a profound mental retardation. Most patients die in the first months after birth to one year of live no more than 10% of children.
A third genetic abnormality detectable by analysis of the new technology - Patau syndrome. The frequency of occurrence - one case per 10,000 births. It characterized by microcephaly, cleft palate and upper lip, malformations of the cardiovascular system. Almost 95% of those with the syndrome do not survive even up to one year.
Also, a new diagnostics capable of detecting other genetic abnormalities, such as di Giorgio syndrome, Angelman syndrome, and others.
