The Genetic Counseling and Human Cytogenetics GENETIC COUNSELING SERVICE AND HUMAN CYTOGENETICS

GENETIC COUNSELING

Genetic counseling is a process of genetic information communication that deals with human problems associated with the risk of occurrence or recurrence of a genetic disorder in a family. This process involves many professionals trying to help the person or family (1) comprise the facts, including the diagnosis likely course of disease and conduct available, (2) assess the manner in which the hereditary disorder contributes to the risk of recurrence in relatives at risk, (3) understand the alternatives for dealing with the risk of recurrence, (4) choose the course of action they deem appropriate on their risk, considering their family goals and principles within their cultural, ethical and religious; (5) adapt as best as possible, the disturbance of an affected family member and / or risk of recurrence of that disorder.

INDICATIONS FOR GENETIC COUNSELING

1. Assessment of a person with mental retardation or developmental delay.
2. Evaluation of a person with one or multiple malformations.
3. Syndrome or disease etiology gene.
4. Affected with possible chromosomal disorder.
5. Couples with a history of recurrent miscarriage.
6. Consanguinity in a couple, usually first cousins ​​or close relatives.
7. Teratogen when advice was used before or during gestation.
8. Advanced Maternal Age.

Although the value of genetic information grows every day in the medical community, few are those familiar with the practice of genetic counseling, so the need specialized services in this practice. In every pregnancy there is a risk of approximately 3% of the child being born with a serious genetic disease or congenital defect. Birth defects and / or mental retardation may occur as part of monogenic syndromes or chromosomal disorders or may result from an interaction of genetic and environmental factors (multifactorial). In each case, the correct diagnostic evaluation and information from genetic factors are important parts of the action to be taken, which can be crucial to prevent recurrence in other family members. We can cite some examples of genetic inheritance as the different types of dwarfisms, albinism and phenylketonuria, a metabolic disorder, genetic inheritance, better known. Pregnancy in women over 35 years is associated with an increased risk of the occurrence of trisomies, the most common trisomy 21 or Down syndrome. Thus the genetic information should be offered to parents who already have a child with Down syndrome or wish to conceive it when the mother already has more than 35 years. Some viral infections, such as rubella and drugs such as retinoic acid and its derivatives, used for the treatment of cystic acne, and anticonvulsants, which are used in the treatment of epilepsy are known to be teratogens. Although not strictly genetic information should be given to mothers exposed to potential teratogens during pregnancy. The offspring of consanguineous marriages increases the risk of being affected for rare autosomal recessive diseases. The magnitude of this risk varies in different populations, depending on their culture, religion or ethnic group. These variables are also important when it comes to inheritance multifactorial disorders such as anencephaly.

Source: www.dbc.uem.br