How to Undergo Carrier Genetic Screenings

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Get screened before you get pregnant, if possible.,
Research your family’s medical history.,
Get your partner tested, if necessary.,
Choose between at-risk and expanded carrier screening.,
Weigh the pros and cons of undergoing genetic screening.

Ideally, undergo carrier genetic screening before you get pregnant. Your doctor should offer you and your partner this at your preconception visit; if they do not, ask about it specifically. Learn your family health history so that you can understand your risks. That way you can choose whether to pursue pregnancy and can proceed in the safest way., Some serious illnesses can be passed to your child even if you don’t have symptoms; often, someone else in your family has had the illness. Find out the medical history of your parents, grandparents, and siblings. Look for the following conditions in your family history:Cystic fibrosis
Sickle cell anemia
Thalassemia
Tay-Sachs disease
Canavan disease
Familial dysautonomia
Familial hyperinsulinism
Gaucher disease
Fragile X syndrome
Klinefelter syndrome
Duchenne muscular dystrophy
Turner syndrome

, Carrier genetic screenings check for diseases that are recessive – for your child to inherit the illness, they have to get the disease gene from both parents. This means that if both you and your partner carry the gene for an illness, even if you have no symptoms of it, then your child has a 1 in 4 chance of being born with the disease. Both parents can get tested together, if you’d like.A common approach is to screen one partner first, then screen the other only if the first carries any disease genes. If only one parent is a carrier, the child will not inherit the disease.

, Usually, people are only screened for those diseases for which they are at higher risk. This is based on ethnicity and family history. However, this approach is limited because many people are mixed-ethnicity, adopted, or do not know their family history. In this case, consider expanded carrier screening. You’ll be tested for over 100 different diseases, rather than only for what you’re specifically at risk., There are pros and cons to undergoing genetic screening, and it is important to consider them carefully before you decide.

Some of the benefits of getting tested might include reducing your anxiety about passing on a certain disease to your offspring, having the opportunity to change your lifestyle if you know you are at risk, and helping you decide if you want to move forward with family planning.
Some of the negatives may include having a strong emotional reaction, such as anger, guilt, depression, or anxiety about getting or passing on a certain disease. You might also see the financial aspect as a negative since many insurance companies don’t cover the testing.

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