Geneticist

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

A geneticist is a specialist who detects, prevents and treats diseases of a genetic nature.

An appointment with a geneticist is addressed if a person in the family already has an established or only suspected hereditary disease, if a child with developmental disabilities was born, or with age he began to experience a delay in mental and physical development.

A geneticist can help women who often have miscarriages or still have dead babies, or have a poor pregnancy.

Helps geneticists and consanguineous couples.

Most often, they turn to genetics at the stage of family planning or women during pregnancy.

Geneticist during pregnancy

Today, when the state of the environment leaves much to be desired, a consultation with a geneticist is an obligatory measure for a family that wants to give birth to a healthy child. Globally, approximately 5% of children are born with a genetic disorder.

To prevent such serious hereditary diseases as hemophilia, Down syndrome, spina bifida, muscoviscytosis, neurofibromatosis, early idiocy, color blindness and others, it is very important to consult a geneticist even before conceiving a child, so as not to make difficult life decisions in fact. In addition to the pathologies listed, sometimes incompatible with life, a geneticist will be able to warn parents and minimize the risk of developing cardiovascular and cancer diseases in a child.

At the same time, the obtained results of genetic tests are not always a sentence. There is a certain percentage of the possible birth of a healthy child. But parents should take risks consciously and, as a last resort, if the prognosis is poor, choose donor conception or adoption. Also, we must not forget that many genetic abnormalities are amenable to correction.

In particular, it is important to understand that a geneticist is especially needed during pregnancy (or at the planning stage) if the parents or only the mother are 35 years old, if the family already has one or more children with genetic abnormalities, if chromosomal changes are detected in parents, if studies of the parents' biochemical markers have shown abnormalities. In addition, a consultation with a geneticist is considered mandatory if a developmental abnormality was noticed on the ultrasound of the fetus.

What is genetic research

In most cases, a consultation with a geneticist begins with the study of the pedigree of a person or a married couple who applied for an appointment with genetics. Thus, according to certain signs, the doctor can suspect the presence of a hereditary disease, determine the type of inheritance.

The patient is sent by a geneticist for a general examination - to exclude or confirm and treat infectious, endocrine and other diseases.

After obtaining general data about the patient's health, studying his heredity, a geneticist can issue a referral for such studies:

karyotype;
genetic screening;
DNA diagnostics - most often assigned to future parents who have a burdened heredity;
research on the fragile X chromosome.

If possible, after receiving the test data, the geneticist will prescribe corrective treatment.

If a pregnant woman comes to see a geneticist, then, in addition to the above studies, a fetal examination may be prescribed to identify malformations. They can be non-invasive - this is ultrasound, analysis of biochemical markers of the mother, or invasive - the collection of biological materials from the uterine cavity for research.

Invasive studies by a geneticist are prescribed in extreme cases if a pregnant woman is at risk for many indicators, since such tests, although they are highly accurate, can pose a threat to the fetus.

How to choose a geneticist

Since the conclusion of a geneticist in most cases determines a person's ability to have children, such a doctor should be chosen with great care.

In this case, you cannot do without reviews of the geneticists in your city. What matters is his reputation and the reputation of the institution in which he works, his experience. If there are no people in your environment who would turn to such a doctor and could say something, the Internet can help. Today, reviews about geneticists, as well as about other specialists, can be found on numerous Internet sites on medical topics. Women's community sites can be especially useful when it comes to family planning.

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