Genetic screening in patients of reproductive age

PREVIEW

“My brother has Down syndrome. Do you think my children could inherit it?” “My sister died of cystic fibrosis. Should I be tested to find out if I could pass this on to my children?” Primary care physicians are faced with such questions fairly often these days as the general public becomes more familiar with genetic testing. People of reproductive age are especially concerned about the pros and cons of testing and its implications for the future. How do you help them with the difficult decisions such testing might lead to? This article reviews ways to determine which patients have an increased risk of having children with a genetic condition and which are likely to benefit from genetic screening and counseling.