Methods of prevention of the hereditary diseases.

Date: 2015-10-07; view: 414.

Multifactorial disorders.

Multifactorial disorders are formed by influence of a lot of factors. One part of the factors is genes. And other part of is factors of environment. As more genes predispose a disease, as more the probability of one. And as more there is a quantity of bad factors, as more the probability of diseases origin. Examples of the diseases are hypertension disease, diabetes, and peptic ulcer

The hereditary diseases are characterized by bad disorders of health, bad prognosis. And, in many cases, there aren't good methods of treatment. So, the main direct of struggle against hereditary diseases is prevention.

One of effective forms of prevention is consultation by physician – geneticist (or genetic consultation). Genetic consultation (GC) – is the kind of specialized medical serves. GC has the following tasks:

1) To define of posterity prognosis in the families having cases of hereditary diseases.

2) To elaborate the diagnosis by special genetically methods.

3) To make a clinical genetic conclusion.

4) To explain the sense of clinical genetic conclusion for members of the family by ways that are clear for they.

5) Distribution of genetic knowledge.

GC has three stages:

1. Elaborating the diagnosis by special genetically methods.

2. Definition of prognosis of sick children birthing.

3. Making a clinical genetic conclusion and explanation of the sense of the conclusion for members of the family by ways that are clear for they.

There are two kinds of GC: prospective consultation and retrospective consultation. Prospective consultation means proband doesn't have sick children yet. Retrospective consultation means proband has sick children.

A lot of special methods are used to elaborate of genetic diagnosis. Among them there are postnatal methods (genealogical analysis (pedigree analysis), cytogenetic analysis, biochemical analysis, DNA analysis, dermatoglyphic maps method) and prenatal methods (ultrasonic examination, X-ray examination, examination of embryo's tissues, tissues of chorion, amnion and placenta, and amnion liquid).

Definition of genetic risk is conducted on the base of certain regularities (see the describing of pedigree analysis). Genetic risk may be low – less than 5%, easy increased – from 5% to 10%, increased of average degree – from 11% to 20%, high – more than 20%.