Geneticist

Genetics is a relatively new medical specialty that is rapidly gaining popularity. And if the future doctors themselves are often attracted by the salary, then consultations with such specialists generally seem priceless to patients.

With their help and on the basis of the analyzes carried out, each applicant will be able to trace the patterns of his heredity and variability. Although genetics as a science has many branches that study microorganisms, plants and animals, in hospitals such doctors study the transmission of diseases in the human body.

Technically, such a doctor does not cure anything. So what do geneticists in private clinics do then? They help to identify genetic pathologies that can harm future offspring. Since hereditary ailments are not always transmitted to future children, it is extremely important to determine whether this will happen in a particular case or will bypass parents.

Even being a carrier of a “bad” gene, mom or dad may not pass it on to a young family member. To play it safe and need a geneticist, along with a lot of auxiliary techniques to establish the truth.

Most couples in the old fashioned way during pregnancy prefer to use the standard set in the form of a blood test, urine test and, at best, a couple of ultrasounds. But such methods do not give a XNUMX% guarantee of checking the fetus for possible congenital deformities or other abnormalities.

Genetic testing is a new step towards the future, since with their help the chances of detecting a pathology increase to almost 100%. Since, according to world statistics, about 5% of babies are born with congenital diseases, many parents want to play it safe in advance.

Reasons for making an appointment

Today, vacancies for genetics experts are available in almost every major city where family planning centers operate. In public clinics, such luxury can hardly be expected, since passing all the tests is a rather expensive procedure. But here private medical institutions help potential mothers and fathers to cope with the task.

Most of these centers additionally offer an initial online consultation. During a brief conversation, the expert explains what can be done with effective tools of genetic expertise. If patients decide that this is a good way to protect future offspring, then further consultation is already transferred to the walls of a specially equipped office.

There, based on the circumstances, it will be decided which specific tests a woman and a man will need to pass, as well as the need to take materials from the fetus. Professionals in their field generally recommend making an appointment even when planning to replenish the family. The preparatory stage will allow you to calculate all the possible risks for the unborn baby. It is likely that already during the gestation of the fetus, it will not be necessary to endanger it with a complex of more traumatic tests and limit itself to a standard absolutely safe set.

Confirm the effectiveness of such foresight and numerous reviews of satisfied patients. By being vigilant, many were able to protect the new family member from possible vices that would worsen his quality of life.

It is believed that the most common genetic diseases are:

• Down syndrome;
• spina bifida;
• hemophilia;
• color blindness;
• hip dislocation.

All of the above and much more not only complicate the life of the person himself, but also require serious financial investments in medical care from the parents.

Do not assume that this can only affect people who themselves have serious diseases. Often a couple are carriers of a gene that for several generations did not manifest itself by a lucky chance, but this time such a joy may not happen. The cause of mutations is the genes of the progenitors, which were changed for the worse by bad habits, ecology and serious past diseases.

If you add to this the mutated genes of both parents, you get an explosive mixture. It is not for nothing that doctors insist that, if they wish to acquire healthy offspring, mother and father should not initially spoil their health with addictions. Requiring a woman to quit smoking only for the period of gestation is a poor prevention of the baby’s diseases.

When should you seek help?

Most of the inhabitants believe that it is necessary to rush to make an appointment with a geneticist already when pregnancy is confirmed in order to check whether the fetus is healthy. But in fact, there are many more reasons for appeals:

• infertility of one of the spouses;
• second non-developing pregnancy;
• repetitions of spontaneous miscarriages;
• problematic heredity;
• pregnancy over the age of 35;
• fetal malformations detected during a planned ultrasound.

A children’s geneticist works separately. Its competence includes confirmation or refutation of chromosomal, hereditary diseases of the infant. Usually, those parents who, for some reason, did not reach a specialist even when planning a family or pregnancy, are registered for a laboratory test.

It is mandatory to visit an expert office if the crumbs have:

• ZPR;
• deviations in terms of physical or psychoverbal development;
• congenital defects;
• autistic disorders.

Timely assistance provided by genetics allows you to start timely prevention even at the prenatal stage. Also, the work of a doctor allows for prenatal diagnosis at the risks of the genetic spectrum.

Confirmed anomalies deserve special attention. If this is found, the doctor will give preliminary forecasts of the life and subsequent development of the child. Based on the results obtained, a strategy is developed with the involvement of therapeutic or surgical intervention.

How is the appointment going?

There are no significant differences between visiting a geneticist and other specialized doctors. The patient still goes through the initial examination, talks about his complaints and suspicions, receives a medical card and goes to take the prescribed tests.

In addition to the main reasons that prompt you to turn to the new generation of pros for help, there are a number of secondary reasons:

• stillborn children;
• marriage between close relatives;
• planning ICSI or IVF.

Separately, situations are considered when, during the gestation of the fetus, a healthy woman had ARVI or another disease, and also accidentally or unknowingly took pharmacological preparations. Sometimes the reason for applying is occupational hazard or staying in an unfavorable ecological zone even before the “interesting situation” was known.

For all this, you first need to carry out a series of procedures to clarify the diagnosis. For this, the following technologies are used:

• biochemical;
• cytogenetic:
• genealogical;
• immunological.

It will not do without a family history, which takes into account the pathology of absolutely all the next of kin. In the most serious scenarios, it will even be necessary to conduct an additional examination of other problematic family members in order to eliminate any risks in the bud.

Further, a good doctor prescribes a detailed prognosis. At this stage, the geneticist tells the couple who applied about what features the nature of the discovered disease carries. The forecast itself will be based on one of three types of inheritance:

• chromosomal;
• monogenic;
• multifactorial.

The final research part is a record with conclusions, where there is information about the health prognosis for a particular family. The risks of giving birth to sick children are also prescribed there.

Also, the specialist will provide a complete set of recommendations, which include advice on whether it is worth planning a pregnancy for a certain couple. They indicate the severity of the disease, life expectancy, as well as the risks not only for the child, but also for the mother.

But here is an unambiguous answer to the question: “Is it possible to give birth?” even at high risks, a geneticist cannot give. Here everything depends entirely on the decision of the spouses themselves.

Diagnostic approach

As science moves forward by leaps and bounds, the new generation of doctors have to learn new things every day. And if ten years ago, ultrasound was considered the best method for identifying possible pathologies, today this option is considered to be significantly outdated. Instead, geneticists are accustomed to using innovative techniques:

1. Provides for the study of the compatibility of partners at the genetic level.
2. Genealogy. The version is based on the collection of information about the ailments of the next of kin of several generations at once.
3. Preimplantation. The study of possible deviations of embryos that are obtained in the laboratory when referring to the IVF procedure.
4. Combined screening for serum markers. A non-invasive technique is carried out even at the stage of gestation and is aimed at searching for pathologies of the chromosomal format.
5. Biochemical screening. Mandatory point of the plan, as well as ultrasound. With its help, it will be possible to exclude the main chromosomal anomalies like Down syndrome.
6. Newborn screening. It helps to negate the risks of sudden development of galactosemia, cystic fibrosis and many other serious diseases. If the markers are positive, then the baby is immediately sent for an appointment with a geneticist.

Some of these methods, in addition to their direct purpose, also work as a test for paternity and other biological relationship.

The group of invasive techniques stands apart. And although they are considered quite popular solutions around the world, most of them provoke various deviations in the development of the fetus. Because of this, physicians prefer to postpone them until later, in order to use them as a last resort, when the risks of possible pathologies exceed the risks of intervention.

They are usually prescribed after screening has given a high percentage of the probability of any pathology. If a safer alternative cannot be found, or the results of the survey according to its scheme turned out to be inaccurate, then there is nothing left to do but use invasive suggestions.

One of the most popular options for this part is amniocentesis. This analysis is carried out during the period of “interesting situation”. Here amniotic fluid is the material for further study.

It is allowed to conduct it exclusively in the period from 17 to 20 weeks of development of the crumbs. Based on the results obtained, it will be possible to find out the karyotype, as well as the concentration of certain enzymes and hormones that adversely affect the baby. Amnicentesis also helps isolate the DNA of the future heir.

A little earlier, a chorion biopsy is performed. It is allowed to do from 8 to 11 weeks. Doctors decide on the appointment of the procedure only if the family already has children with genetic abnormalities. The material used is the fetal bladder, which can only be accessed by piercing the peritoneal wall.

One of the latest permitted invasive methods is cordocentesis. It is carried out for 17 weeks. For examination, blood is taken from the umbilical cord vessels. This is indispensable for those parents in whose family diseases of the cardiovascular system and the immune system are a frequent occurrence.

Embryoscopy can be performed at 5-12 weeks. To do this, a special device is introduced into the uterus, which looks like a flexible hose. The results obtained will indicate the state of the blood circulation of the crumbs.

He prescribes one of these tests only after prior agreement with the doctor, and not at his own request or unconfirmed suspicions.