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Reasons to seek advice from genetics

What does a geneticist do?
Medical genetics is a part of human genetics that studies diseases and pathologies caused by heredity. A geneticist studies hereditary diseases and the conditions under which hereditary predisposition is realized. It does not cure any organ or system of the body, it is within its competence to identify the disease associated with genetics, or the risk of its occurrence.

Tasks genetics:
diagnose a hereditary disease;
identify genetic pathology of the fetus during pregnancy of the mother;
determine the risks of having a child with a hereditary disease at the planning stage of his birth.
The treatment of hereditary diseases is performed by the doctors of the respective specialties.

The competence of genetics includes:

1. Gene diseases caused by mutations in the gene – cystic fibrosis, phenylketonuria, Marfan disease, albinism, congenital hypothyroidism.

2. Chromosomal diseases due to changes in the structure or number of chromosomes – Down syndrome, Klinefelter syndrome, Patau syndrome.

3. Diseases with hereditary predisposition, manifested under certain conditions under the influence of external factors, – “hare” lip, clubfoot, congenital dislocation of the hip, hydrocephalus.

4. Mitochondrial diseases arising from mitochondrial DNA defects – components of the cell that supply it with energy. These are myopathies, encephalopathies, cardiomyopathies, blindness, deafness, etc. The transmission is carried out along the maternal line;

5. Genetic incompatibility of mother and fetus, caused by incompatibility of Rh factor and blood group. This condition leads to hemolytic disease of the newborn.

In what situations is genetics consultation necessary?
As a rule, other specialists refer to a genetics consultation when a hereditary disease is suspected in a patient.

Hereditary diseases
Most often, the direction given is:

gynecologists and fertility specialists – with infertility, miscarriage, miscarriages, stillbirths;
obstetricians and gynecologists – when research has shown abnormalities in the development of the fetus;
neonatologists – with congenital malformations of the child;
pediatricians – in case of delayed mental or physical development of the child, developmental abnormalities, including sexual;
narrow specialists – when the disease is not treatable by conventional methods.
Genetics during pregnancy
In pregnancy, genetic counseling helps to identify the risks of having a baby with hereditary pathologies.

During pregnancy, genetic counseling is necessary in cases of:

when a woman is over 35 years old or younger than 18 years old;
the woman has a hereditary disease, the disease was in her family;
the woman already had children with pathologies or malformations;
at the beginning of pregnancy, the woman had viral infectious diseases: chickenpox, rubella, cytomegalovirus or herpes infection, etc .;
a woman in the first trimester took alcohol or drugs, was exposed;
the examination revealed deviations in the results of ultrasound, biochemical studies.
If a hereditary disease is suspected, the geneticist prescribes the necessary research for both the pregnant woman and the fetus (prenatal diagnosis).

Genetics in family planning
It is advisable to get a consultation from a geneticist to all couples before pregnancy, when planning the birth of a child, in order to determine the likelihood of future children’s diseases. In some cases, a genetics consultation is required:

Genetics
there were cases of serious hereditary diseases in families of future parents;
the couple already had miscarriages or dead children were born;
the couple had children with a genetic pathology;
woman over 35;
future parents are consanguineous.
A geneticist first of all collects detailed information about the family medical history of future parents, considering three generations of each family: diseases, life expectancy, childbirth, miscarriages, abortions — everything matters. Next, the doctor prescribes biochemical blood tests and, possibly, special studies – the karyotype (chromosome study) and HLA-typing (genetic compatibility of the pair).

Based on the results of research, information about family diseases, history of previous pregnancies, a geneticist calculates the risks of having a child with hereditary pathologies.

However, it must be borne in mind that the risk of having a child with genetic abnormalities does not mean that the hereditary disease is definitely found in the baby. At the highest risk, a child can be born healthy.

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