NEWBORN SCREENING PILOT STUDIES - CORE FUNCTION ACTIVITIES

新生儿筛查试点研究 - 核心功能活动

• 批准号: 10912414
• 负责人: CAGGANA MICHELE
• 金额: $ 0.25万
• 依托单位: NYSDOH/HEALTH RESEARCH, INC.
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-28 至 2024-09-27
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10912414
• 关键词: Advisory Committees; Affect; American; Annual Reports; Authorization documentation; Biological Assay; Cessation of life; Child; Child Health; Clinical; Clinical Treatment; Collaborations; Contractor; Contracts; Development; Developmental Disabilities; Disease; Early Diagnosis; Early treatment; Evaluation; Goals; Hereditary Disease; Intellectual functioning disability; Laboratories; Left; Medical Genetics; National Institute of Child Health and Human Development; Neonatal Screening; Nervous System Trauma; Newborn Infant; Pilot Projects; Published Comment; Rare Diseases; Recommendation; Reporting; Schedule; Severities; authority; medical schools; meetings; member; new technology; physically handicapped; programs; screening guidelines; screening panel

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 25 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. 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. It has become evident, however, that a major impediment to implementing new technologies in high throughput newborn screening laboratories is the ability to provide evidence of the feasibility of the assay, both scientifically and logistically, in a timely manner. A majority of disorders considered for newborn screening are rare diseases where the likelihood of detecting cases during standard newborn screening in a single laboratory is very low. For this reason, collaborative efforts, implemented across multiple states or newborn screening laboratories, are necessary for the successful development and implementation of new assays and the addition of new conditions to the Recommended Uniform Screening Panel (RUSP).

新生儿筛查的目标是在新生儿中发现可能致命或致残的疾病，从而为早期治疗提供机会，通常是在儿童仍无症状时进行治疗。这种早期发现和治疗可对受影响儿童病情的临床严重程度产生深远影响。如果不加以诊断和治疗，目标疾病的后果可能是可怕的，许多疾病会造成不可逆转的神经损伤、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项“核心疾病”筛查，并报告在核心评估期间确定的25项次要疾病。这些建议已被卫生与公众服务部部长新生儿和儿童遗传性疾病咨询委员会（ACHDNC）（由2000年《儿童健康法》授权）和卫生与公众服务部部长接受。大多数州现在使用这种或非常类似的小组进行新生儿筛查。目前，已经确定了数千种罕见疾病，数百种可能从新生儿筛查中受益。