Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress.

摘要

It is now possible, using tandem mass spectrometry, to screen newborn infants for more than 20 biochemical disorders of genetic origin. Before screening is widely adopted, it will be necessary to document its efficacy and assess the risks, including the psychologic sequelae of a false-positive result. This prospective study enrolled 50 affected children identified by expanded newborn screening and 33 others who were identified clinically. In addition, 94 screened children with false-positive screening findings and 81 with true-positive results were included in the study. Interviews were conducted with 254 mothers and 153 fathers; both parents of 149 infants responded. The most frequent disorders in screened infants were MCADD (medium-chain acylcoenzyme A [CoA] dehydrogenase deficiency) and very long-chain acyl-CoA dehydrogenase deficiency. The most common clinically diagnosed disorders were propionic acidemia, MCADD, and glutaric acidemia type II. The rate of hospitalization within the first 6 months of life was 28% for screened infants and 55% for those identified clinically. Screened infants were treated a median of 4 months sooner than the clinically detected babies. The number of children having symptoms when diagnosed, or complications after diagnosis, was 60% lower in the screened group. Management was comparable in the 2 groups, but clinically diagnosed infants were at least 3 times likelier to require further interventions or special services such as home nursing care. Two developmental scales demonstrated better performance by screened infants. Significant deficits in communication, daily living skills, socialization, and motor skills were evident in nearly half of the clinically diagnosed children but not in any of those who were detected by screening. Half the parents of affected children felt that they did not have an adequate understanding of newborn screening. They did rate their children's health care positively. Affected children went to a metabolic center a median of 4 times a year and visited their primary physician 6 to 7 times a year. Scores on the Parenting Stress Index indicated significantly less overall stress in mothers whose infants were screened. These mothers also were less likely to report a negative effect on future reproductive plans. Stress levels were significantly higher in mothers whose infants had false-positive screening than in those with normal screening results. Parents need information about newborn screening before the child's birth. Primary care physicians and other healthcare professionals also are in need of education about metabolic disorders. Genetic counselors are rarely consulted but could provide valuable reproductive information and counseling.