Are hereditary diseases observed in marriages between close relatives?

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QUESTION: Is it possible to determine the marriage of close relatives by submitting an analysis to prevent future unhealthy births? If so, what analyzes should be submitted?

Fayzullo Tursunovich, andrologist:

ANSWER: Medical-genetic counseling is the most common method of preventing congenital malformations. The essence of this method is that it calculates the probability of giving birth to a defective child. Based on this advice, she decides whether to get married, have children or not. Medical-genetic counseling is most effective in preventing congenital malformations and hereditary diseases before the fetus emerges or in the early stages of pregnancy.

This process goes in 3 stages:

1. Special genetic methods of diagnosis:

A. Genealogical examination and genealogy.

B. Hereditary-related metabolism by biochemical-genetic methods, determination of heterozygous transport of recessive allele genes.

C. Prenatal diagnostics (ultrasound, biochemical screening of protein markers in the blood of pregnant women, amniocentesis - obtaining amniotic fluid for fetal karyotyping).

2. Determining the prognosis of future generations. This is based on data on the type and variant of hereditary acquisition of the pathological condition, the results of prenatal diagnosis.

3. Giving hereditary risk in the form of an understandable conclusion.

Ideally, any family planning to have a child should undergo medical-genetic counseling.

The direct prerequisites for consultation with a geneticist are:

• Possibly inherited or identified hereditary diseases;

• Marriage of close blood relatives;

• The presence of an effect that causes a genetic change (teratogenic, mutagenic) in the first 3 months of pregnancy;

• Significant deviation from the norm of the result of protein screening markers in pregnancy;

• Markers of chromosomal diseases in the fetus and the detection of developmental birth defects on ultrasound.

RECOMMENDATION: You can go to the screening center and get relevant and other additional tips.