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美国妇产科医师学会委员会意见第 778 号:新生儿筛查与妇产科医生的角色。

ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist.

出版信息

Obstet Gynecol. 2019 May;133(5):e357-e361. doi: 10.1097/AOG.0000000000003245.

Abstract

Newborn screening is the largest genetic screening program in the United States, with approximately 4 million infants screened annually. Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with testing and necessary follow-up health care for a variety of medical conditions. The goal of this public health program is to decrease morbidity and mortality by screening for disorders in which early intervention will improve neonatal and long-term health outcomes. The program's functions include the initial screening of all newborns, identifying screen-positive newborns, diagnosing conditions, communicating with families, ensuring that affected children are referred to treatment centers, following up with long-term outcomes, and educating physicians and the public according to individual state or jurisdictional guidelines. All states and the District of Columbia have newborn screening programs with varying screening panels, policies, statutes, and regulations. Most programs have adopted the guidelines suggested by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Obstetrician-gynecologists and other obstetric care providers should make resources about newborn screening available to patients during pregnancy. Providing newborn screening information during prenatal care visits can be accomplished in several ways and should be adapted to individual practice style. Integrating education about newborn screening into prenatal care allows parents to be prepared for having their child undergo screening as well as for receiving newborn screening test results. This document includes updated information on the Recommended Uniform Screening Panel (RUSP) and recommendations for incorporating newborn screening into obstetric practice.

摘要

新生儿筛查是美国最大的遗传筛查项目,每年约有 400 万婴儿接受筛查。新生儿筛查是一项强制性的州立公共卫生计划,为美国所有新生儿提供各种医疗条件的测试和必要的后续医疗保健。该公共卫生计划的目标是通过筛查可以通过早期干预改善新生儿和长期健康结果的疾病,来降低发病率和死亡率。该计划的功能包括对所有新生儿进行初步筛查、识别筛查阳性的新生儿、诊断疾病、与家庭沟通、确保将受影响的儿童转介到治疗中心、跟踪长期结果,并根据个别州或司法管辖区的指南对医生和公众进行教育。所有州和哥伦比亚特区都有新生儿筛查计划,筛查小组、政策、法规和法规各不相同。大多数计划都采用了新生儿和儿童遗传障碍自主咨询委员会建议的指导方针。妇产科医生和其他产科护理提供者应在怀孕期间向患者提供有关新生儿筛查的资源。可以通过多种方式在产前护理就诊期间提供新生儿筛查信息,并应适应个人的实践风格。将新生儿筛查教育纳入产前护理可以使父母为孩子接受筛查以及接受新生儿筛查测试结果做好准备。本文档包含有关推荐统一筛查小组(RUSP)的最新信息以及将新生儿筛查纳入产科实践的建议。

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