Previously, all newborns screened for two hereditary diseases, now they are tested for five.

Science already knows about 5,000 genetic diseases. Of course, no country in the world, even the richest, there is no way to check every newborn for all diseases. However, there is probably, and makes no sense. In the U.S., infants are tested no more than 7-8 hereditary diseases. Only those that are most commonly found in the region. By the same token were selected diseases and we.


All newborns in this country for 15 years are required for the analysis of two hereditary diseases: phenylketonuria and congenital hypothyroidism. In the hospital on the fifth day of their lives, each child take a drop of blood and sent to a genetic counselor. There is, first, it is determined whether the baby damage of those genes which are responsible for processing phenylalanine. This amino acid is present in virtually all protein products. If such damage is, the baby should be as soon as possible – three weeks – to transfer to a special medical diet. Scarce will receive products that contain protein (he allows the child to grow and develop), freed from the harmful amino acids for him. In Russia there is a factory that produces such products, and now do not have to buy health food in the West.

If non-diet the child is doomed to severe mental retardation. On a special diet patients with phenylketonuria are about 10-12, sometimes up to 18 years. Children develop normally, go to a regular school, in general, a genetic disease can not handle directly by altering the gene, and, if I may say so, a roundabout way.

The second analysis of a drop of blood of a newborn passes for congenital hypothyroidism. Research shows whether the thyroid gland produces the hormone thyroxine. If you do not have to take it for a lifetime. With a little damaged thyroid gland, taking small doses of the hormone, a person will feel quite healthy.

Every year in Russia reveal about 150 children suffering from phenylketonuria, and 450-460, who do not produce the hormone thyroxine. Almost all of them can help, if diagnosed in a timely manner.

Now, as part of the national project “Health” will test all newborns for three hereditary diseases: congenital adrenal hyperplasia, galactosemia and cystic fibrosis.


In some cases, spouses, awaiting the birth of a child is worth visiting genetic counseling?

If you have met in the old hereditary disease: hemophilia, diabetes, Getingtona chorea, Duchenne myopathy… Doctors will determine whether you are a carrier of the defective gene that causes this disease, and can give it to your child.
If you are a member of the sister marriage: married to her second cousin, for example. You have shared great-grandfathers and great-grandfathers, and you can be carriers of the same defective gene.
If any of your relatives had mental retardation or physical disabilities.
If you decide to have offspring in adulthood. According to statistics, for women after 37 years increases the risk of having a baby with chromosomal abnormalities, including Down syndrome. And according to the latest scientific data, and an underage girl if she got pregnant, it is necessary to undergo prenatal genetic counseling. It used to be that “daunyata” come to light only in the elderly parents. Now science knows that they are often born and 15-16-year-old mother.


Prenatal testing – another way to prevent the birth of a terminally ill child. This area of diagnostics of inherited diseases are now developing very fast. These tests can detect about 70% of birth defects! Down syndrome and Edwards’ illness – chromosomal disease that predict mental retardation, malformations of the nervous system, heart, brain, limb abnormalities…

If the fetus has malformations, doctors say the baby is born viable or not, how serious pathology and how it will affect his health. And because studies done on 14-16th weeks of pregnancy, there is time to make a decision – will she break her or not. Genetics only put the parents in popularity: healthy fruit or defective development, and the last word spouses.

Genetics annually save thousands of families from the tragedy – the birth of a terminally ill child.

Doctors know that sometimes for religious reasons women refuse abortion and continue to bear a disabled child. But 4.5-5 thousand pregnancies are aborted every year precisely because the fetus were discovered congenital malformations or chromosomal disorders.


One of the reasons why women are reluctant to undergo screening during pregnancy, and even try to avoid them – they are afraid that the survey will damage the development of the fetus and a healthy baby in search of anomalies to hurt.

To attend Genetic counseling should be prepared: take a statement from a medical clinic card, ask in detail about the family illness of relatives.

Blood is nothing wrong in itself is not every woman in the months of pregnancy have so much time to donate blood that any will get used to this procedure. As for taking the amniotic fluid or chorionic fetal membranes, it decades ago, when these methods are being developed, there was a real threat of termination of pregnancy due to incorrectly performed procedures. But now that the technique worked, and research is being done under ultrasound guidance, nothing to fear. The threat of termination of pregnancy as a result of antenatal surveys ranges from 1 to 1.5%. Threat rather than fetal death! This is due more to the fact that the technique is not perfect, but with the fact that now many pregnant women suffer from various diseases: gynecological, allergies, kidney disease, and many others. These related problems and complicate the study. They themselves do not harm the fetus and does not affect his development. On the contrary, help to avoid the birth of a seriously ill child.

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