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Last reviewed: 01.06.2018

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A geneticist is a specialist who studies the mechanisms of transmission of diseases from generation to generation. Each of these diseases has its own patterns of transmission. Carriers of a defective gene do not necessarily transmit it to their children, and being a carrier does not always mean getting sick.

In the world, 5% of children are born with congenital diseases. The most common diseases that can be prevented by a geneticist: 

  1. Hemophilia.
  2. Color blindness.
  3. Splitting of the spine.
  4. Down Syndrome.
  5. Congenital dislocation of the hip.

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When should I go to a geneticist?

Consultation of a geneticist is not given to all pregnant women. When should I go to a geneticist? First of all, you should apply to those who already have a child with a hereditary pathology, if the mother is more than 35 years old or, if during pregnancy, a woman underwent a course of chemotherapy or made an x-ray of an extensive area of the body.

What methods of diagnosis does a geneticist use?

Often they are interested in the question, what tests do you need to pass to when you address a geneticist? Those who turn to a geneticist are assigned a study for the presence of a mutant gene that causes the disease.

You, probably, it is interesting to know, what methods of diagnostics the geneticist uses? 

  • Genealogical method. Collection of data on the patient's pedigree. If you have information about the health status of your ancestors in several generations, for a geneticist it can be very valuable. Take an example from those who take care of their roots and know about the lives of their grandparents and their parents.
  • Biochemical method - used to diagnose genetically determined pathologies of metabolism.
  • Antenatal diagnosis - applied to the fetus, already conceived by a woman. The fetal fluid is sampled at the time when the pregnancy can be interrupted. Immunochemical analysis of amniotic fluid is performed on such parameters as alfa-etoprots (AFP), chorionic gonadotropin (CH), estriol and 17-hydroxyprogesterone. Increase AFP - an indicator of the development of the central nervous system (anencephaly, splitting of the spinal cord, etc.). Decreased AFP and estriol and an increase in HG may indicate the presence of a Down's disease in the fetus. The increase in 17-hydroxyprogesterone will indicate a violation of the adrenal glands. 
  • The twin method.
  • Muscle biopsies.

Genetics Tips

Genetics tips that can help you give birth to a healthy baby are fairly simple.

If a woman is pregnant after 35 years, she is given a genetic counseling.

Close-to-marriages are not recommended. With a high degree of kinship between the father and the mother of the child, he can be born with deviations. If you still want to make a closely related marriage, visit the genetics in advance.

The last word always remains with the parents, the geneticist only informs the spouses about the possible pathology.

Genetic diseases

The most common genetic diseases, the prevention of which deals with a geneticist.

  • Alcaptonuria is a congenital deficiency of the enzyme homotenzinase. Symptoms of the disease: staining the urine in black, gradually colored cheeks and sclera. It is recommended dietotherapy, excluding meat and eggs.
  • Histidynemia is a deficiency of the enzyme histidase. As a result, metabolic products are toxic to the nervous system. This affects the child's mental development. He lags behind in growth and suffers from increased nervous excitability. The disease occurs in one of 20,000 children. Such patients can be helped by appointing a special diet with an emphasis on fats and carbohydrates.
  • Polycystic kidney disease is a disease that affects more than 12 million people worldwide. It is characterized by the formation of multiple cysts in the kidneys. They are formed even in the womb, and in adulthood can affect the kidney in such a way that they completely stop their work. Symptoms of the disease: abdominal pain, urinary tract infection, kidney failure. There is no specific treatment, kidney transplants may be required.
  • Marfan's disease is a disease that affects the connective tissue. Characterized by thin thin fingers and heart defects. The disease can affect the functioning of the lungs and the musculoskeletal system. Patients are often disproportionate to limbs, scoliosis, irregular bite, visual impairment and glaucoma, heart rhythm disturbances.
  • Hemophilia is a hereditary disorder of blood coagulability. The disease is of two types: due to a violation of the factor of coagulability of blood VIII and a violation of coagulability by factor IX. The average prevalence is 1: 30000.
  • Symptoms of hemophilia: prolonged bleeding in the joints and muscles.
  • Treatment is carried out with the help of special replacement therapy.
  • Down Syndrome - occurs when a child gets from the mother or father an extra 21 chromosome when forming a zygote.

Patients have a characteristic appearance: a flat face with slanted eyes, a wide tongue, a round head, with small ears. Hair is very soft, straight. The brushes are wide, the little finger is shortened.

With the parents of these children, special work is carried out. Down's syndrome is not treated, but people with it can be adapted to society. More and more children with this vice remain in families.

Modern genetics has reached such a high level of development that it can be argued that a qualified geneticist is your assistant in the birth of healthy and beautiful children. Of course, whether your hereditary diseases will manifest in your children depends largely on your attitude to yourself and your health. Hereditary predisposition is not a verdict. Most diseases are multifactorial. You can help the baby to be born healthy, if you exclude the influence of harmful factors before it appears.

A geneticist can help prevent many serious illnesses in your children. Genetic counseling does not negate the fact that the last word on whether to give this child a life will be yours.

A geneticist can also help you if you want to know about the risk of developing oncological diseases, atherosclerosis, stroke and diabetes. The world was shocked by the case when actress Angelina Jolie, learning about the high risk of developing breast cancer due to her mother's illness, decided to mastectomy. We do not urge you to take extreme measures. But perhaps a geneticist, telling you about the predisposition to cancer, will prompt you to take care of yourself more carefully.

It is important to know!

Monogenic defects (determined by one gene) are observed more often than chromosomal defects. Diagnosis of diseases usually begins with the analysis of clinical and biochemical data, the pedigree of the proband (the person who first discovered the defect), the type of inheritance. Read more..

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