Chung Jeffrey, Smith Andrea L, Hughes Sarah C, Niizawa Gabriela, Abdel-Hamid Hoda Z, Naylor Edwin W, Hughes Timothy, Clemens Paula R
Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Muscle Nerve. 2016 Apr;53(4):570-8. doi: 10.1002/mus.24880. Epub 2015 Sep 10.
An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995.
For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed.
All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety.
There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.
1987年至1995年间，宾夕法尼亚州匹兹堡的两家医院实施了一项针对杜氏肌营养不良症（DMD）和贝克肌营养不良症（BMD）的退出式新生儿筛查（NBS）项目。
对于通过NBS或症状出现后通过传统诊断被诊断为DMD或BMD的患者及其家庭中的父母，评估他们对DMD和BMD的NBS态度。
所有患者和大多数父母都支持对DMD和BMD进行NBS。与NBS父母队列相比，非NBS队列认为通过NBS进行诊断会引起焦虑。
在通过NBS或传统诊断获得诊断的家庭中，患者及其父母都强烈支持对DMD和BMD进行NBS。在通过NBS获得诊断的家庭中，未发现NBS有负面的社会心理影响。
