Why do it?
Genetic screening in pre-pregnancy will let you know if you are at an increased risk of having a child with a genetic condition. A test can also be carried out during pregnancy.
These tests can be helpful in giving you a bigger picture of the health of your baby, however they are only useful if you will act on the results.
Disorders which are most commonly screened often include Cystic Fibrosis (CF), Fragile X (FX) and Spinal Muscular Atrophy (SMA).
What happens if I am a carrier?
If a carrier status is confirmed some couples may choose to undergo an invasive diagnostic procedure such as amniocentesis during pregnancy to determine whether their baby is affected. Being informed about a baby’s positive carrier status can help prepare you for future outcomes, and assist you to make informed choices about your pregnancy.
Who should be screened?
Genetic screening is a personal choice and there are no strict guidelines for who should and shouldn’t be screened. However, if there is a family history of a genetically linked condition then the woman and her male partner/donor should be screened. Some people will be carriers of CF, FX or SMA even though they do not have anybody in their family who has the condition. Screening can also be done for couples with a family history of a specific genetic condition or in a population of people where genetic disorders are common.
