Reasons to Seek Genetics
What the geneticist does
Medical genetics is a part of human genetics that studies diseases and pathologies caused by heredity. A genetic doctor studies hereditary diseases and the conditions under which a hereditary predisposition is realized. It does not cure any organ or system of the body, in its competence the identification of a disease associated with genetics, or the risk of its occurrence.
Tasks of genetics:
diagnose a disease due to heredity;
identify genetic pathologies of the fetus during pregnancy of the mother;
identify the risks of having a baby with a hereditary disease at the planning stage of his birth.
Doctors of the corresponding specialties are involved in the treatment of hereditary diseases.
The competence of genetics includes:
1. Gene diseases caused by mutations in the gene – cystic fibrosis, phenylketonuria, Marfan’s disease, albinism, congenital hypothyroidism.
2. Chromosomal diseases caused by changes in the structure or number of chromosomes – Down syndrome, Klinefelter syndrome, Patau syndrome.
3. Diseases with a hereditary predisposition, manifested under certain conditions under the influence of external factors, such as a cleft lip, clubfoot, congenital dislocation of the thigh, hydrocephalus.
4. Mitochondrial diseases resulting from defects in the mitochondrial DNA – the constituent cells supplying it with energy. These are myopathies, encephalopathies, cardiomyopathies, blindness, deafness, etc. Maternal transmission;
5. Genetic incompatibility of the mother and the fetus, caused by incompatibility of the Rh factor and blood group. This condition leads to hemolytic disease of the newborn.
In what situations is a genetics consultation necessary
As a rule, other specialists are referred to a geneticist for a consultation when a patient is suspected of a hereditary disease.
Most often, they give direction:
gynecologists and reproductologists – for infertility, miscarriage, miscarriages, stillbirths;
obstetrician-gynecologists – when studies have shown abnormalities in the development of the fetus;
neonatologists – with congenital malformations of the child;
pediatricians – with a delay in the 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
During pregnancy, a genetics consultation 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 older than 35 years old or younger than 18 years old;
a woman has a hereditary disease, such a disease was in her family;
the woman has already given birth to children with pathologies or malformations;
a woman was ill at the beginning of pregnancy with viral infectious diseases: chickenpox, rubella, cytomegalovirus or herpes infection, etc .;
a woman in the first trimester used alcohol or drugs, was exposed to radiation;
examination revealed deviations in the results of ultrasound, biochemical studies.
If a hereditary disease is suspected, the geneticist prescribes the necessary studies for both the pregnant woman and the fetus (prenatal diagnosis).
Genetics in family planning
It is advisable for all couples to get advice from a geneticist before pregnancy, when planning the birth of a child, in order to identify the likelihood of diseases of future children. In some cases, genetics consultation is required:
in families of future parents there were cases of serious diseases of a hereditary nature;
the couple already had miscarriages or dead children were born;
the couple had children with a genetic pathology;
woman over 35 years old;
future parents are in consanguinity.
The geneticist first of all collects detailed information about the family medical history of future parents, examining the three generations of each family: illness, life expectancy, childbirth, miscarriage, abortion – it all matters. Next, the doctor prescribes biochemical blood tests and, possibly, special studies – karyotype (chromosome study) and HLA typing (genetic compatibility of the pair).
Based on the results of research, information about family diseases, the history of previous pregnancies, the geneticist calculates the risks of having a baby with hereditary pathologies.
However, it must be borne in mind that the risk of having a baby with genetic abnormalities does not mean that the baby will necessarily show a hereditary disease. At the highest risk, the baby may be born healthy.