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More about genetic counseling

What are genes and how are they connected to diseases like sickle cell?
Genes are made up of DNA molecules, which are the simplest building blocks of heredity. They are grouped together in specific patterns within a person's chromosomes, forming the unique "blueprint" for every physical and biological characteristic of that person.

Humans have 46 chromosomes, arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent. This newly formed combination of chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to each new cell in the growing fetus. Current science suggests that human chromosomes carry from 25,000 to 35,000 genes. An error in just one gene can sometimes be the cause for a serious medical condition.

In most cases with sickle cell disease, both the mother and father pass along the gene that causes the disorder.

How does genetic testing work?
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders. Genetic tests don't yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes or chromosomes. Deciphering what these complex tests mean is where a genetic counselor comes in.

Who are genetic counselors?
Genetic counselors are professionals who have either a master's or bachelor's degree or who have completed a certification course in medical genetics and counseling. They then pass a certification exam administered by the American Board of Genetic Counseling. Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, suggest testing, and lay out possible scenarios. (They refer you to a doctor or a laboratory for the actual tests.) They will explain the meaning of the medical science involved, provide support, and address any emotional issues often raised by the results of the genetic testing.

Why should I see a genetic counselor?
The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after you become pregnant, a meeting with a genetic counselor can still be helpful. If you or your partner either knows or suspects that you may have sickle cell trait, then counseling can help you confirm and understand the risks that it poses to any child you might conceive.

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