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Abstract：
Aim This study aims to assess the effect of implementing an enhanced prenatal genetic checklist to guide the provider\'s discussion on both screening and diagnostic options for fetal aneuploidy testing at the initial prenatal visit. Methods A retrospective quality improvement (QI) project was performed at a single, large, urban academic medical center. The implementation of this project was prospective; however, data was examined retrospectively after the QI initiative was implemented for three months. Patients were included if they were less than 24 weeks gestational age with a live intrauterine gestation at their initial obstetric (OB) visit. Patients less than 18 years old at the initial OB visit were excluded. The results were analyzed using the statistical software R. Chi-squared tests were used to examine proportional differences between the pre- and post-intervention groups with respect to demographic and clinical characteristics and documented genetic counseling discussions. Results A total of 416 patients were included in the final cohort. As measured by documentation, the rate of discussion of diagnostic prenatal genetic testing increased significantly from the pre-intervention proportion of 54% to the post-intervention proportion of 72% (p < 0.001). In the subgroup analysis of patients with advanced maternal age, the rate of discussion of diagnostic prenatal genetic testing increased significantly from the pre-intervention proportion of 53% to the post-intervention proportion of 83% (p = 0.003), and the rate of genetics counseling referrals made at the initial prenatal visit increased significantly from 4% pre-intervention to 38% post-intervention (p < 0.001). Conclusions The use of an enhanced prenatal genetic checklist led to increased discussion of diagnostic fetal aneuploidy testing and increased rates of referral to genetics counseling.
摘要：
目的本研究旨在评估实施增强的产前遗传检查表的效果，以指导提供者在初次产前检查时对胎儿非整倍体检测的筛查和诊断选择的讨论。方法采用回顾性质量改进(QI)项目,大,城市学术医疗中心。该项目的实施是有前景的；然而，在实施QI计划3个月后对数据进行回顾性检查.如果患者小于24周孕龄，在初次产科（OB）就诊时进行了子宫内动态妊娠，则将其包括在内。在初次OB就诊时年龄小于18岁的患者被排除在外。使用统计软件R对结果进行分析。卡方检验用于检查干预前后组之间在人口统计学和临床特征方面的比例差异，并记录了遗传咨询讨论。结果最终队列共纳入416例患者。根据文档衡量，诊断性产前基因检测的讨论率从干预前的54%增加到干预后的72%(p<0.001)。在对高龄产妇的亚组分析中，诊断性产前基因检测的讨论率从干预前的53%上升到干预后的83%(p=0.003),初次产前检查时的遗传学咨询转诊率显着从干预前的4％增加到干预后的38％（p<0.001）。结论使用增强的产前遗传检查表导致对诊断胎儿非整倍体测试的讨论增加，并增加了转诊到遗传学咨询的比率。
