Genetic counseling

Genetic counseling is the process of determining the risk of passing on an inherited disease to your child. Genetic counseling involves a specially trained physician who identifies at-risk families, investigates the problem present in the family, interprets information about the disorder, analyzes transmission routes and risk of relapse, and discusses available options with the family.

Who should seek genetic counseling?

Genetic counseling should be considered for couples who have one or more of the following risk factors:

Abnormal results from routine prenatal testing.
Amniocentesis results that identify a chromosomal defect.
An inherited disease present in a close family member.
A child with a birth defect or genetic disorder.
Mother over 35 years old.

The following represents some of the ethnic groups which have a greater chance of certain genetic defects:

Ethnic Group
Genetic Defect
African Americans
Sickle Cell Anemia
Central or Eastern Jews
Tay– Sachs disease
Italian, Greek, Middle Eastern
Thalassemia

What is genetic counseling?

When working with a genetic counselor, you should expect a few things. You must start with your blood relatives on both sides to begin creating a comprehensive history of specific illnesses and the reasons why they occurred. This is probably the most important part of the genetic risk assessment.

To facilitate this assessment, the doctor will likely ask some of the following questions:

Do you have a history of diabetes, hypertension, cancer or twins?
Are there any diseases that seem to run in your family?
Do you have a history of genetic diseases such as cystic fibrosis, hemophilia, or muscular dystrophy?
Is anyone with mental retardation or any birth defect?
Did any of your sisters, cousins or other relatives have problems with her pregnancy?
Are your parents alive and well?
What is your national origin?
Is there any reason why you suspect that your child may be born with a birth defect or other disease?

What are genes and chromosomes?

A gene is a segment of DNA coded to carry a particular trait; it has a specific task (i.e. to determine the color of your eyes). Genes are the simplest building blocks of heredity. They are grouped together in specific patterns on a person's chromosomes, forming a unique "pattern" for each physical and biological characteristic of that person.

Chromosomes are made up of deoxyribonucleic acid (DNA) molecules. Humans have 46 chromosomes located in pairs in every living cell of our body. When an egg and sperm combine at conception, half of each pair of chromosomes is inherited from each parent.

What causes genetic disorders?

Genetic disorders can be caused by various factors. Genetic disorders can be caused by chromosomal abnormalities. Disorders can also be caused by a single gene.

They can be identified as dominant, recessive, or X-linked disorders:

Dominant Disorders: One gene is defective, and it overrides the normal gene.
Recessive Disorders: Both genes in the pair are defective.
X-linked Disorders: A defective gene is on an X chromosome, which may be recessive or dominant.

The following is a list of potential explanations for birth defects or genetic disorders: