Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
复制标题
DOI：
10.1001/jama.290.19.2564
复制
发表时间：
2003-11-19
影响因子：
120.7
通讯作者：
Levy, HL
中科院分区：
文献类型：
--
作者：
Waisbren, SE;Albers, S;Levy, HL
串联质谱法现在允许新生儿筛查20多种生化遗传疾病。有关扩大新生儿筛查生化遗传疾病的有效性和风险的问题，需要回答之前，其广泛接受作为一个国家强制性program.Objectives比较新生儿鉴定扩大筛查与临床鉴定生化遗传疾病，并评估对家庭的影响，在扩大的新生儿筛查项目中，阳性筛查结果与正常结果相比。设计：前瞻性研究，包括新诊断儿童的初始队列。设置：马萨诸塞州，缅因州，和宾夕法尼亚州的一家私人实验室扩大了新生儿筛查;其他新英格兰州的筛查有限。参与者通过扩大新生儿筛查确定了50名受影响儿童的家庭（82%符合条件的病例）; 33名受影响儿童经临床确诊（合格病例的97%）; 94名筛查儿童出现假阳性结果（75%的合格病例）; 81名筛查结果正常的儿童（63%的合格病例）。主要结果测量儿童的健康和发育以及父母压力指数。结果在出生后的前6个月内，28%的新生儿筛查确定的儿童需要住院治疗，而55%的临床确定的儿童需要住院治疗（P= 0.02）。新生儿筛查确诊1例，临床确诊8例（42%），精神发育迟滞（P
Context Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program.Objectives To compare newborn identification by expanded screening with clinical identification of biochemical genetic disorders and to assess the impact on families of a false-positive screening result compared with a normal result in the expanded newborn screening program.Design Prospective study involving an inception cohort of newly diagnosed children.Setting Massachusetts, Maine, and a private laboratory in Pennsylvania with expanded newborn screening; other New England states with limited screening.Participants Families of 50 affected children identified through expanded newborn screening (82% of eligible cases); 33 affected children identified clinically (97% of eligible cases); 94 screened children with false-positive results (75% of eligible cases); and 81 screened children with normal results (63% of eligible cases).Main Outcome Measures Child's health and development and the Parental Stress Index.Results Within the first 6 months of life, 28% of children identified by newborn screening compared with 55% of clinically identified children required hospitalization (P=.02). One child identified by newborn screening compared with 8 (42%) identified clinically performed in the range of mental retardation (P