Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services

Abstract

Objectives: The California Prenatal Screening Program serves over 350,000 women annually. This study examines utilization rates for the various screening options and patient choices regarding follow-up services.

Methods: The study tracked patients with first trimester positive results for Down syndrome to examine patient decisions regarding follow-up services and/or additional screening and to identify determinants of patient decisions. For first trimester screen positive women who elected further screening, second trimester integrated screening results were analyzed. The Genetic Disease Screening Program Chromosome Registry was used to identify Down syndrome cases.

Results: Ethnicity, but not age, was a strong predictor of acceptance of prenatal diagnosis. Approximately 47% of first trimester screen positive women opted for further screening. Among these women, 46% percent received an integrated screen negative result. All but one confirmed Down syndrome case in this cohort were still screen positive.

Conclusions: Data from the California Prenatal Screening Program indicate that all of the major screening modalities continue to be utilized. The wide range of choices made by women with screen positive results demonstrate the importance of including multiple options within the Program. Providing integrated screening to first trimester Down syndrome screen positive women reduced the number of unnecessary invasive procedures.