GENETIC COUNSELLING

Gene and chromosome disorders

Genetics can also affect the health of babies. Single gene disorders are caused by a problem in a single gene and run in families. Examples of single gene disorders are cystic fibrosis and sickle cell anaemia.
Chromosome1 disorders occur when all or part of a chromosome is missing or extra, or if the structure of one or more chromosomes is not normal. Most chromosome disorders that involve whole chromosomes do not run in families.

WARM UP

• What is a gene ?

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1 A chromosome is a DNA (deoxyribonucleic acid) molecule with part or all of the genetic materiai (genome) of an organism.

When to see a doctor

Women should talk to their doctor about their and their partner’s family health histories before becoming pregnant.
This information can help doctors to find out if there are any genetic risks. Depending on the genetic risk factors, doctors might suggest that women meet with a genetic professional. Some reasons a person or couple might need genetic counselling are:

  • a family history of a genetic condition, birth defect, chromosomal disorder, or cancer;
  • two or more pregnancy losses, a stillbirth, or a baby who died;
  • a child with a known inherited disorder, birth defect, or intellectual disability;
  • a woman aged 35 or older who is pregnant or plans to become pregnant;
  • test results that suggest a genetic condition is present;
  • increased risk of getting or passing on a genetic disorder because of one’s ethnic background;
  • people related by blood who want to have children together.
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Genetic testing?

During the consultation, the genetics professional will discuss genetic risks or diagnose, confirm, or find out about a genetic condition. Some tests can help couples to know what the chances are that a person will get or pass on a genetic disorder. The genetics professional can help couples decide if genetic testing is the right choice for them.1

DO

1 The vast majority of babies in the world are born healthy, i.e. without birth defects. The percentage is:
a. 90-91%;
b. 94-95%;
c. 96-97%.