National Testing Centre, P O Box 872, Auckland, New Zealand.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):104-3.
The challenge of newborn screening programmes is to maximise benefits and minimise harms. These harms include pain inflicted as a result of taking the test, reduced by pain relief and training of specimen takers; from false positive and negative test results (impacting both affected families and healthcare professionals), minimised effectively by taking the sample at the correct time, precise and specific tests, appropriate disorder definition, well chosen cut-offs (which may be informed by a large series of diagnosed cases of the screened disorders) second-tier tests, age adjusted normal ranges and anxiety which may be appropriate but limited by the availability of information. Programme audit is important in early detection of problems.
新生儿筛查项目面临的挑战是使效益最大化，同时将危害最小化。这些危害包括测试带来的疼痛，可通过止痛和对取样者的培训来减轻；假阳性和假阴性测试结果（既影响受影响的家庭，也影响医疗保健专业人员），可通过在正确的时间取样、进行精确和特定的测试、适当的疾病定义、选择合适的截断值（可根据大量已确诊的筛查疾病病例来确定）、二级测试、年龄调整的正常范围以及可能适当但受信息可用性限制的焦虑来有效降低。项目审核对于早期发现问题很重要。
