Most of our genes are inherited in pairs with one copy coming from each parent. We all carry 5 to 7 non-working (altered) genes. For many genetic diseases, one working copy of a gene is enough to prevent disease. If an individual carries one working copy and one non-working copy of a gene, he or she is called a carrier for that genetic disease. If both partners carry one copy of the same non-working gene, and they both pass on this non-working copy to their baby, the baby will not have a working copy and will be affected with the disease.
Screening involves giving a blood sample.
What if both parents are carriers?
If each parent has the same non-working gene, there is a 25% chance with each pregnancy of having a baby born with the disease. It is possible to test the unborn child to see if he or she has both non-working copies.
For more information about genetic carrier screening, visit www.med.umich.edu/obgyn/pac/carrierscreen.htm.