Development of a Computer-Aided Genetics Education Module (CAGEM) on Screening and Testing for Fetal Chromosome Conditions and Carrier Status: A Clinical Trial

Rationale Cytogenetic abnormalities are present in nearly 1% of live births, in approximately 2% of pregnancies in women older than 35 years who undergo prenatal diagnosis, and in fully half of all spontaneous, first-trimester abortions. Genetic counseling and screening for cytogenetic abnormalities are an integral part of routine obstetrical care. There are various screening options and strategy available commercially, including screening for the fetus and parental carrier screening. Currently American College of Obstetrics and Gynecology (ACOG) recommends that all pregnant women should be offered screening for fetal aneuploidy. ACOG also recommends panethnic screening for cystic fibrosis, hemoglobinopathies and spinal muscular atrophy carrier status. For other conditions, glycogen storage diseases and fragile X syndrome, the recommendation currently is to screen based on ethnicity and family history. Without thorough counseling, pregnant women may accept multiple screenings without considering the downstream consequences, including anxiety created by additional, sometimes uncertain, information.

Numerous professional societies guidelines have emphasized the importance of pre-test counseling in this setting due to the delicate and complicated nature of genetic conditions. Along with these guidelines, typically minimal recommended information to be provided during a pre-test counseling was included. Generally it involves, the optional nature of the test, general information about condition tested, nature of testing (screening, carrier screening or diagnostic), testing options, possible testing result, implication of each result, cost and availability of genetic counseling should needed. The responsibility of offering these tests and to perform pre-test counseling lie primarily on the obstetrical care providers and has become more burdensome as the number of testing options expands and also due to limited time for discussion during a prenatal care.

Technology may be able to address these limitations. Various studies have evaluated the use of Computerized Decision Aids (CDAs) in facilitating high-quality decision making in various health related contexts with promising results (17-20). CDAs are generally superior to traditional decision aids such as, paper-based or video-based, due to the possibility to tailor CDAs based on the information provided, the ease of information dissemination and also their interactive features which reinforce participation. This study is looking to evaluate the use of computer-based pre-test education for prenatal cytogenetic abnormalities screening.

Statement of Problem Per professional society guidelines, all women should be offered prenatal screening and/or diagnostic testing for fetal aneuploidy (chromosome conditions such as Down syndrome, trisomy 18, trisomy 13, and sex chromosome abnormalities) during pregnancy. Women should also be offered population-based carrier screening but have the option of expanded carrier screening as well. There are an increasing number of testing and screening options available during pregnancy. The obstetrics provider is primarily responsible for ensuring patients are informed about their options and the benefits, risks, and limits of each. These discussions can be time intensive in a setting where the time available is often limited. As such, there is a need to find alternate ways to educate women about their prenatal testing and screening options.

Objectives The overarching purpose of the full project is to determine whether a computer aided genetics education module can improve pregnant women's knowledge about their options for fetal aneuploidy (chromosome) screening and testing and carrier screening and facilitate informed decision making.