Advisory Department

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We certainly dream of our offspring being healthy, capable, beautiful, and of course, happy in life. As parents, we want our children to be like us, but we hope that they will inherit our strengths, not weaknesses and shortcomings. And no one would want to leave their children a legacy of diseases leading to disability, to a short defective life. However, it is well known not only that not all children are born healthy and develop normally, but also that there are families, as if marked with the seal of trouble, in which certain diseases are transmitted from generation to generation.

For many people, the issues of family planning, the birth of a child are sometimes a painful, or even insoluble problem without friendly and qualified medical care. In fact, where and how can you find out the health problem of the unborn child; to find out whether there is a great danger of a serious illness that one of the parents, brothers or sisters, or other relatives has. Are miscarriage, infertility, the birth of a sick child, early infant mortality in the family related to genetic and hereditary causes or are they caused by external factors. These and many other questions arise in almost all future parents. The total frequency of hereditary diseases and malformations among newborns and young children is 5%. In order to get answers to these questions, you need to consult a geneticist.

Indications for medical genetic counseling:

• having a child with a hereditary disease or congenital malformations
• the presence of a chromosomal rearrangement, hereditary disease or malformation in one of the spouses
• consanguineous marriage
• the age of the expectant mother is over 35 years old
• the impact of adverse factors in early pregnancy (infectious diseases, especially viral etiology, massive drug therapy; x-ray diagnostic procedures; occupational hazards);
• the presence of spontaneous miscarriages, stillbirths of unknown origin, primary amenorrhea, infertility of spouses;
• unfavorable course of pregnancy (the threat of termination, polyhydramnios, fetal hypotrophy, the presence of congenital malformations in the fetus by ultrasound and a high risk of having a child with chromosomal pathology.

Reception is conducted by:

• doctor-geneticist, head of MGK, doctor of the highest qualification category Khramikhina Svetlana Sergeevna
• The geneticist Yudina Svetlana Sergeevna.

Reception hours: from 8.00 to 14.00 daily from Monday to Friday office No. 2.

Contact the registry of MGK 1st floor.

MGK registry tel. 72-05-27

Working hours from 8:00 to 15:48

To have with you for the initial and repeated admission / consultation / examination:

• referral from the attending physician
• passport/birth certificate (for a child)
• compulsory medical insurance policy
• for employees of law enforcement agencies (Ministry of Internal Affairs, UFSIN, FSB, etc.) employee ID
• referral from the departmental polyclinic.

Prevention of hereditary pathology.

Primary prevention is action. which should prevent the conception of a sick child. These include planning childbearing and improving the human environment.

Critical periods in fetal development coincide with periods of the most intensive formation of systems and organs and are characterized by increased sensitivity of the embryo to damaging environmental factors. The first critical period in humans falls at the end of the first to the beginning of the second week of pregnancy, when the damaging factor often leads to the death of the embryo. The second period begins with the third week of pregnancy, when a similar factor induces a malformation.

Generally recognized risk factors for the occurrence of congenital malformations are unplanned pregnancies, late maternal age, insufficient prenatal (prenatal)control, viral infections (primarily rubella), taking medications with teratogenic effects, alcohol, smoking, drugs, malnutrition, occupational hazards.

Childbearing planning includes 3 main positions:

the optimal reproductive age, which for women is 21-35 years (earlier or later pregnancies increase the likelihood of having a child with congenital and chromosomal diseases).
• refusal of childbearing in cases of high risk of hereditary and congenital diseases (in the absence of reliable methods of prenatal diagnosis, treatment, adaptation and rehabilitation of patients);
• refusal to procreate in marriages with blood relatives and between two heterozygous carriers of a pathological gene.

The improvement of the human environment should be aimed mainly at preventing newly emerging mutations through strict control of mutagens and teratogens in the environment.

All spouses planning childbearing are shown to carry out periconceptional prevention of congenital malformations-taking folic acid 1 mg per day for 1-2 months before (both spouses) and in the first 3 months of pregnancy (taking the drug only for pregnant women). Folic acid is a water-soluble vitamin and is easily excreted from the body, so its overdose is almost impossible. The main sources of folic acid are: rye flour, green peas, beans, parsley, lettuce, spinach, asparagus, avocado, citrus fruits, liver and offal, cheeses, meat, fish.

Secondary prevention involves termination of pregnancy with a high probability of fetal diseases or prenatally diagnosed disease. It is possible to terminate a pregnancy only within the prescribed time and with the consent of the woman. Termination of pregnancy is not the best solution, but so far it is the only method of secondary prevention of most severe and fatal genetic defects.

Tertiary prevention is the correction (correction) of the manifestation of pathological genotypes. With its help, it is possible to achieve complete normalization of functions or a decrease in the severity of the pathological process. Typical examples of diseases in which tertiary prevention of phenylketonuria, hypothyroidism, galactosemia is possible. For example, celiac disease manifests with the beginning of the introduction of complementary foods to the child. Gluten intolerance is at the heart of the disease . The exclusion of this protein from the diet completely guarantees getting rid of severe damage to the gastrointestinal tract.

Every woman dreams of becoming a mom. After all, it's so wonderful to hold a healthy baby in your arms, which becomes the meaning of your whole life. How amazing it is to watch his first steps and first victories. The joy of healthy motherhood is now available to all women, regardless of genetic predisposition. You just need to be very attentive to yourself and, of course, believe in miracles! Remember this and never give up on your dream!