The Physical, Emotional, and Financial Trauma Incurred by Infants and Their Families When an Existing Condition Is Not Detected by Newborn Screening: In Reply

Abstract

We thank Ms Leight for her comments, which emphasize the success of newborn screening in preventing mental retardation, significant health problems, and/or death in children affected by these rare disorders. Indeed, our research also documented severe medical and developmental effects of biochemical genetic disorders in children whose conditions were not diagnosed through newborn screening. As reported previously, Waisbren et al1 found that compared with a clinically identified group, infants in a newborn-screened group showed significantly better health and developmental status and their parents experienced lower levels of stress.We support expanded newborn screening. However, long-term follow-up research must be conducted so that the meaning of the newborn screening results is clearer (ie, transient abnormalities versus true disorders), optimally effective treatments can be developed, better confirmatory testing can become routine, and physicians can more accurately provide parents with information about how the metabolic disorder will affect their child in the future.Expanded newborn screening is a reality. As states continue to add disorders to their screening panels, it is important to pause and examine the effects of newborn screening. Therefore, we advocate further research on the newborn screening process, long-term follow-up, and increased parental education.