What are genetic disorders and what causes them?
What is carrier screening?
What is a carrier?
How is carrier screening done?
When can carrier screening be done?
What carrier screening tests are available?
Who should consider carrier screening?
What can the results of a carrier screening test tell me?
What decisions do I need to make if I am a carrier?

What are genetic disorders and what causes them?
A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.

What is carrier screening?
Carrier screening is done to screen genetic disorders that might be present in the child or maybe carried by any of the parent and transferred to the child. Career Screening helps predict the individuals chances of having a child with a genetic disorder.

What is a carrier?
A carrier is a person who has no symptoms (or only mild symptoms) of a disorder but can pass on the defective gene for that disorder to his or her child.

How is carrier screening done?
Carrier screening involves testing a sample of blood or saliva. The sample is tested using CarrierMap that can detect as much as 300 possible genetic disorders.

When can carrier screening be done?
You can have carrier screening before pregnancy (preconception) or during pregnancy. Carrier Screening is most required in case you are planning for egg donation or sperm donation or via IVF. If it is done before pregnancy, you have a broader range of options and more time to make decisions.

What carrier screening tests are available?
Carrier tests with Carrier map is available for a wide range of genetic diseases, including cystic fibrosis, fragile X syndrome, sickle cell disease, and Tay–Sachs disease.

Who should consider carrier screening?
Your doctor or genetic counselor will help you find out if you are at any risk of passing on a genetic disorder by obtaining a family health history. You are at increased risk if
• you have a genetic disorder
• you already have a child who has a genetic disorder
• there is a family history of a genetic disorder
• you belong to an ethnic group that has a high rate of carriers of certain genetic disorders

What can the results of a carrier screening test tell me?
If both parents are carriers, there is a 25% chance that the child will get the abnormal gene and will have the disorder. There is a 50% chance that the child will be a carrier of the disorder—just like the carrier parent.
If only one parent is a carrier, there is a 50% chance that the child will be a carrier of the disorder and a 0% chance that the child will have the disorder.

What decisions do I need to make if I am a carrier?
If you find out before you’re pregnant, that you are a carrier of certain disease, you may decide to try
– Artificial insemination with sperm from a donor or egg donor who is not a carrier
– In-vitro fertilization, with special testing of the embryo before it’s implanted or
– Some couples decide to adopt a child instead or not to have children at all.
– If you’re already pregnant and screened positive for genetic defect you can go for an early screening that may help you to take early treatment in case your child is affected. You can seek prior consultation with the right medical specialists, to start treating your child after delivery.