What is carrier screening?
A carrier screening is a genetic test to find out whether the person carry a gene for certain genetic disorder. In IVF treatment the Carrier screening test is particularly done before to know the chances of having a child with genetic disorder.
Having a normal healthy baby is very important for the couples planning to have a baby especially if you have a family history of a genetic disorder or an unidentified cause of infertility with multiple implantation failure or miscarriages.
Most carrier screenings are done for recessive disorders. The baby gets one gene from father & one from mother, if only one of the parents has a recessive disorder gene which is passed to the baby then the baby is called a carrier.
If both parents are carriers then there is 25% (1 in 4) chance the baby is affected with the genetic disease / disorder & 50% (1 in 2) chance the baby is a carrier of the disorder.
How is the test performed?
To perform a carrier screening test a simple blood sample is collected from either the Husband or wife & sent to genetic laboratory for testing; the test results can take few weeks.
The parent who is most likely to be a carrier is tested first.
- If the test results show that the first parent is not a carrier, then testing on the other parent is not required.
- However, if the first parent is a carrier in the test result then the other parent is advised to get tested.
- If both husband & wife are positive for a genetic disorder, then Akruti IVF genetic expert doctor will help & guide you with the further course of treatment to avoid the passing on the genetic disorder to your future baby.
What carrier screening tests are available ?
Normally, carrier screening is available for limited diseases including:
- Cystic Fibrosis
- Fragile X syndrome
- Sickle Cell Disease
- Tay-Sachs Disease
- Spinal Muscular Dystrophy
There are two broad tests for carrier screenings:
- Targeted and expanded genetic carrier screenings. – In targeted or ethnic-based carrier screening is based on your ethnicity or family history. In case of family history of a specific disorder, screening for that disorder would be advised.
- Expanded genetic carrier screenings – It are advised in some cases. This type of screening is done to find defects for more than 150 genetic disorders.
Who is this test recommended for?
Anyone can be a carrier for one or more genetic conditions. Usually most doctors would advise to undergo a carrier screening test just to avoid any transferring risk of the known or unknown genetic disorder which may run in the family history.
At Akruti IVF the Genetic Expert Doctor will advise different reproductive approaches in order to avoid transferring of the genetic disorder.
Is carrier screening safe?
A simple blood sample is collected from one or both of the parents thus there are no risks associated with a carrier screening test.