Such a profession as a geneticist, is quite popular, because in the world, according to statistics, 5% of children are born with various congenital diseases.
The highest prevalence are:
- Down Syndrome;
- Spina Bifida;
- Dislocation of the hip.
Hereditary and congenital diseases significantly reduce the quality of life, shorten its duration, require the provision of competent medical care. To touch the problem of the birth of a sick child can any married couple, as people bear the burden of mutations in genes from the previous generations, and these mutations occur in the germ cells of the parents.
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When to refer to genetics?
Seek the advice of a specialist is necessary at the planning stage of pregnancy.
This is especially true for the following pairs:
- The couple, who faced infertility problem.
- Women who have a second missed miscarriage.
- Repeated cases of spontaneous abortion.
- The identified hereditary diseases in families.
- Age women older than 35 years.
- Malformations of the fetus that was discovered during a routine ULTRASOUND screening.
Genetics counseling may be required by the child. So, in Pediatrics science allows to confirm or refute chromosomal or genetic disease in a child. Definitely the baby needs to be genetics, if he has mental retardation, disorders infizicheskom ili psihorechevom razvitii, imeutsya vrozhdennye poroki ili autisticheskie rasstrojstva.
ne stoit dumat, chto konsultaciya genetika – eto kakaya-to neobychnaya procedura. ona otnositsya k razryadu specializirovannyh medicinskih uslug i napravlena na okazanie pomoshi bolnomu. ee cel – vyyavlenie i profilaktika nasledstvennyh boleznej i porokov razvitiya.
pomosh genetika pozvolyaet svoevremenno nachat profilaktiku, v tom chisle i dorodovuu, osushestvit kompleksnuu prenatalnuu diagnostiku ploda, esli est geneticheskij risk razvitiya rebenka. esli vrozhdennye anomalii podtverzhdautsya, to genetik mozhet dat predvaritelnyj prognoz razvitiya i zhizni rebenka. vozmozhno, budet izmenena taktika vedeniya beremennoj zhenshiny, predprinyaty mery po vypolneniu terapevticheskij, libo hirurgicheskoj korrekcii vyyavlennyh narushenij.
prichiny obrasheniya k genetikuakusher-ginekolog – vot tot vrach, kotoryj chashe vsego otpravlyaet semejnye pary na konsultaciu k genetiku, pediatry i neonatologi – specialisty, rekomenduushie konsultaciu u genetika detyam i novorozhdennym.
prichiny, dlya obrasheniya k genetiku, mogut byt sleduushimi:
- pervichnoe besplodie;
- pervichnoe nevynashivanie beremennosti;
- mertvorozhdenie ili vykidyshi;
- imevshiesya vrozhdennye i nasledstvennye bolezni v semejnom anamneze;
- zakluchenie braka mezhdu blizkimi rodstvennikami;
- planirovanie procedury eko i iksi;
- neblagopoluchnyj hod beremennosti s riskom hromosomnoj patologii;
- veroyatnost vrozhdennogo poroka razvitiya (po rezultatam uzi);
- perenesennye orvi, priem lekarstvennyh sredstv, professionalnye vrednosti, kak negativnye faktory, okazyvaushie vliyanie na hod beremennosti.
kak prohodit priem u genetika?
pacientu, prishedshemu na konsultaciu, neobhodimo budet projti cherez neskolko etapov:
- utochnenie diagnoza. esli imeetsya podozrenie na nasledstvennuu patologiu, to vrach budet ispolzovat razlichnye metody issledovaniya, chtoby eto podozrenie oprovergnut ili podtverdit: biohimicheskie, immunologicheskie, citogeneticheskie, genealogicheskie i pr. krome togo, potrebuetsya izuchenie semejnogo anamneza, vyyavlenie dannyh ob imeushihsya u blizhajshihrelatives pathologies. You may need a more thorough examination of relatives of patients.
- Forecast. At this stage, the doctor will explain applying for assistance to the family nature of this disease. Directly forecast is based on a certain type of inheritance is monogenic, chromosomal, multifactorial.
- The conclusion is given to patients in written form, where the prediction of health for offspring of a particular family. The doctor evaluates the risk of a sick child and inform the spouses.
- Recommendations genetics boil down to the fact that he gives advice, whether the family to plan the birth of a child, given the severity of the disease, life expectancy and possible risks for the baby's health and for the health of parents. With regard to the decision and whether to bear a child or not, then it will take the couple on their own.
Diagnostic techniques in geneticsGenetics in their work using a variety of sophisticated methods to diagnose possible disorders.
- The genealogical method that aims to collect information about diseases relatives in several generations.
- HLA testing or the study of genetic compatibility. This method of diagnosis is recommended for passage of the spouses during the planning of a future pregnancy. In addition, it is possible to study the karyotypes of husband and wife, the analysis of gene polymorphisms.
- Preinflation the study of genetic abnormalities in the development of the embryos were obtained by IVF.
- Non-invasive combined screening serum markers women and fetus. This method is executed at the stage of carrying a child and allows us to identify existing chromosomal abnormalities.
- Invasive testing of the fetus is used only when absolutely necessary. The fetal genetic material obtained via chorionic villus sampling, cordocentesis or amniocentesis.
- Fetal ultrasound is also quite informative method and allows you to see gross defects and anomalies development of the fetus. Perform mandatory three times during the carrying a child.
Biochemical screening is a mandatory procedure for all women who bears a child. This method allows to exclude a chromosomal abnormality, such as:patau syndrome, down syndrome, Edwards syndrome, etc.
- Newborn screening is performed to detect cystic fibrosis, galactosemia, phenylketonuria, congenital hypothyroidism, androgenital syndrome. If markers for these diseases are detected, the child is referred to a geneticist, and he repeats the procedure. Upon confirmation of the diagnosis, a doctor appointed by the appropriate treatment.
In addition to the above methods, the geneticist is able to establish paternity and maternity, as well as biological kinship.
Prevention of hereditary diseases
For preventive purposes in genetics there are three directions:
- Prevention primary. It boils down to planning childbirth, waived when there is a high risk of disease, and to improve the environment of the person.
- Secondary prevention is to select embryos with defects in pre-implantation stage. This also includes termination of pregnancy, if there is an obvious pathology.
- Tertiary prevention aimed at correcting those manifestations that give damaged genotypes.
When a child is born with the already existing defects, the more often he needs surgery (for congenital defects). Social support and appropriate therapy and lifelong follow-up is needed when genetics genetic and chromosomal anomalies.