SUPPORT FOR THE NEWBORN SCREENING PILOT STUDIES RELATED ACTIVITIES

支持新生儿筛查试点研究相关活动

• 批准号: 10709464
• 负责人: WILLIAM WILCOX
• 金额: $ 0.25万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-28 至 2023-09-27
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10709464
• 关键词: Advisory Committees; Affect; American; Cessation of life; Child; Child Health; Clinical; Collaborations; Contracts; Developmental Disabilities; Disease; Early Diagnosis; Early treatment; Evaluation; Goals; Hereditary Disease; Intellectual functioning disability; Left; Medical Genetics; Neonatal Screening; Nervous System Trauma; Newborn Infant; Pilot Projects; Rare Diseases; Recommendation; Reporting; Severities; medical schools; physically handicapped; screening guidelines; tool

The goal of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. Such early detection and treatment can have a profound impact on the clinical severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of the targeted disorders can be dire, many causing irreversible neurological damage, intellectual, developmental, and physical disabilities, and even death. In 2006, the American College of Medical Genetics (ACMG) developed newborn screening guidelines that recommend that all newborn infants be screened for 29 "core conditions" and that 26 secondary conditions identified during the core evaluations be reported. These recommendations have been accepted by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and by the Secretary of HHS. Since acceptance of the core conditions, 5 additional ones have been added. Most states now use this or very similar panels for newborn screening. Currently, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening.

新生儿筛查的目的是发现新生儿潜在的致命或致残状况，从而为早期治疗提供机会（通常是在孩子还没有症状时）。这种早期发现和治疗可以对受影响儿童病情的临床严重程度产生深远的影响。如果不及时诊断和治疗，目标疾病的后果可能是可怕的，许多会导致不可逆的神经损伤、智力、发育和身体残疾，甚至死亡。 2006年，美国医学遗传学学院（ACMG）制定了新生儿筛查指南，建议对所有新生儿进行29种“核心病症”筛查，并报告核心评估期间发现的26种次要病症。这些建议已被 HHS 秘书新生儿和儿童遗传性疾病咨询委员会 (ACHDNC)（经 2000 年《儿童健康法》授权）和 HHS 秘书接受。自核心条件获得通过以来，又新增了5个条件。现在大多数州都使用此或非常类似的面板进行新生儿筛查。目前，已发现数千种罕见疾病，还有数百种可能受益于新生儿筛查。