STEPS IN GENETIC COUNSELING: BRIEF OUTLINE

Definition:
Genetic counseling is a process of communication and education that addresses concerns relating to the development and/ or transmission of a hereditary/genetic disorder.


The purpose of genetic counseling is to enable a consultand (person who seeks counseling) to understand:
–The medical diagnosis and its implications in terms of prognosis and possible treatment
–The mode of inheritance of the disorder and the risk of developing and/ or transmitting it
–The choices or options available for dealing with the risks

Prenatal Diagnosis: Significance, Indications and Methods

Overview:

Streele and Breg in 1966 established that the chromosomal make up of a fetus could be determined by study of cultured cells from the amniotic fluid. Due to the well-known association between the advanced maternal age and an increased risk of Down syndrome, the role of prenatal diagnosis as a medical service was of utmost importance.

Definition

Prenatal diagnosis in simple term indicates the ability to detect abnormalities in an unborn child.

Chromosome and Chromosomal Disorders

What is a chromosome?

The genes are arranged in precise arrays to form a linear unit known as chromosome. 

It consists of DNA and proteins called Chromatin.

– Heterochromatin refers to highly coiled regions where genes aren’t expressed.

– Euchromatin refers to loosely coiled regions where genes can be expressed.

Chromosomes contain the genetic information necessary to direct the development and functioning of all cells and systems in the body. They pass on hereditary traits from parents to child (like eye color) and determine whether the child will be male or female.