California Department of Public Health, Genetic Disease Screening Program, Richmond, CA, USA.
Prenat Diagn. 2012 Nov;32(11):1077-83. doi: 10.1002/pd.3961. Epub 2012 Aug 18.
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.
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.
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.
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.
加利福尼亚产前筛查计划每年为超过 35 万名妇女提供服务。本研究检查了各种筛查选择的利用率以及患者对后续服务的选择。
该研究跟踪了唐氏综合征筛查结果呈阳性的第一孕期患者,以检查患者对后续服务和/或额外筛查的决策,并确定患者决策的决定因素。对于选择进一步筛查的第一孕期筛查阳性女性,分析了第二孕期综合筛查结果。遗传疾病筛查计划染色体登记处用于识别唐氏综合征病例。
种族,但不是年龄,是接受产前诊断的强有力预测因素。约有 47%的第一孕期筛查阳性女性选择进一步筛查。在这些女性中,46%的人接受了综合筛查阴性结果。该队列中除了一个确认的唐氏综合征病例外,所有病例仍为筛查阳性。
来自加利福尼亚产前筛查计划的数据表明,所有主要的筛查方式仍在继续使用。筛查阳性结果的女性做出的广泛选择表明,在该计划中纳入多种选择非常重要。为第一孕期唐氏综合征筛查阳性的女性提供综合筛查减少了不必要的侵入性手术数量。