Testing for rare genetic diseases
Genetic screening for disease processes and birth defects are increasingly available with advances in research. New tests are becoming available and the information we can share with our patients is constantly being updated. Thankfully, most of these tests are for rare conditions and are not necessary for the majority of our patients.
You will be asked to complete a history sheet outlining any genetic diseases that you are aware of in your family at your ﬁrst prenatal visit. Your doctor will also ask you about any medical conditions that run in your family. This information could affect your care during pregnancy.
A few genetic conditions are statistically common enough that screenings are available for them to every patient or certain patient types. Some of these conditions include Down syndrome, spinabiﬁda and cystic ﬁbrosis. Getting screened for these conditions is not required and usually is a personal decision.
Genetic screening is complicated and not always diagnostic so we strive to explain the advantages and disadvantages of any screening. Insurance companies can be vastly different in their coverage of any testing, so be sure to double-check with your insurance on costs. Most screenings should be completed during the ﬁrst half of pregnancy to provide you with as much information as possible.