In order to effectively reduce disability, morbidity and mortality, the newborn screening (NBS) process from specimen collection through diagnosis and treatment must occur within the short window of opportunity between birth and the onset of symptoms. An accumulation of data and empirical evidence suggests a need for increasingly expedited screening, particularly of time-critical conditions (i.e. conditions that may manifest with acute symptoms in the first days of life and require immediate treatment to reduce risk of morbidity and mortality). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (Committee) reviewed current policies and practices relating to timeliness of NBS in the United States. Based on the information and data that were gathered, the following goals were established in April 2015.
- To achieve the goals of timely diagnosis and treatment of screened conditions and to avoid associated disability, morbidity and mortality, the following time frames should be achieved by NBS systems for the initial newborn screening specimen:
- Presumptive positive results for time-critical conditions should be communicated immediately to the newborn’s healthcare provider but no later than five days of life.
- Presumptive positive results for all other conditions should be communicated to the newborn’s healthcare provider as soon as possible but no later than seven days of life.
- All NBS tests should be completed within seven days of life with results reported to the healthcare provider as soon as possible.
- In order to achieve the above goals:
- Initial NBS specimens should be collected in the appropriate time frame for the newborn’s condition but no later than 48 hours after birth, and
- NBS specimens should be received at the laboratory as soon as possible; ideally within 24 hours of collection.
The entire NBS system process, from sample collection through transit, testing and reporting, needs to be time-effective to meet the recommendations. NBS systems can use these goals for timeliness to achieve the best outcomes for affected newborns. The Committee encourages States to monitor their progress in achieving these goals and make the information readily available to providers and the general public.