Stevens Evelyn M, Patterson Chavis A, Tchume-Johnson Trudy, Antiel Ryan M, Flake Alan, Smith-Whitley Kim, Barakat Lamia P
Division of Oncology, The Children's Hospital of Philadelphia.
Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA.
J Pediatr Hematol Oncol. 2019 Nov;41(8):579-585. doi: 10.1097/MPH.0000000000001592.
Uptake of prenatal genetic testing (PGT) is low among those with sickle cell disease (SCD). This study evaluated the association of knowledge and attitudes towards prenatal genetic counseling (PGC), awareness of posttesting intervention options and omission bias with attitudes towards PGT. In addition, we explored changes among knowledge, attitudes, and awareness of options following exposure to an educational, clinical vignette among parents of children with SCD. Parents (n=44) completed a questionnaire and an educational, clinical vignette presenting a detailed account of a pregnant woman with sickle cell trait seeking PGT and PGC was read to each participant. t Tests, Spearman correlations, multivariable regressions, and moderation/mediation analyses were used. More positive attitudes towards PGC (P=0.01), lesser tendency of omission bias (P<0.01) and private insurance (P=0.04) were significant correlates of more positive attitudes towards PGT. Omission bias mediated the relationship of attitudes towards PGC and attitudes towards PGT (95% confidence interval: 0.13, 3.03). Awareness of options (P=0.02), knowledge of PGC (P=0.01) and knowledge of PGT (P=0.01) significantly improved after exposure to the clinical vignette. Patients and families with SCD can benefit from education about the importance of prenatal diagnosis to improve attitudes, address omission bias and promote more informed decisions of PGT.
镰状细胞病（SCD）患者中，产前基因检测（PGT）的接受率较低。本研究评估了对产前遗传咨询（PGC）的知识和态度、对检测后干预选项的知晓情况以及遗漏偏差与对PGT态度之间的关联。此外，我们还探讨了SCD患儿家长在接触教育性临床案例后，其知识、态度和对选项的知晓情况的变化。44名家长完成了一份问卷，并阅读了一个教育性临床案例，该案例详细描述了一名携带镰状细胞性状的孕妇寻求PGT和PGC的情况。使用了t检验、Spearman相关性分析、多变量回归分析以及调节/中介分析。对PGC的更积极态度（P = 0.01）、较小的遗漏偏差倾向（P < 0.01）和私人保险（P = 0.04）是对PGT更积极态度的显著相关因素。遗漏偏差介导了对PGC的态度与对PGT的态度之间的关系（95%置信区间：0.13，3.03）。接触临床案例后，对选项的知晓情况（P = 0.02）、对PGC的知识（P = 0.01）和对PGT的知识（P = 0.01）有显著改善。SCD患者及其家庭可从关于产前诊断重要性的教育中受益，以改善态度、解决遗漏偏差并促进对PGT做出更明智的决策。
