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Newborn Screening for Biochemical Genetic Disorders May Confer Benefits to Both Children and Parents

Children with biochemical genetic disorders identified by newborn screening have better health outcomes than do children identified clinically, and parents of the screened newborns report lower stress levels according to the initial findings of a prospective newborn screening study.

"However, false-positive screening results may place families at risk for increased stress," writes Susan E. Waisbren, PhD, of Children's Hospital Boston, Massachusetts, United States, and colleagues. The researchers compared health outcomes of 50 affected children identified through expanded newborn screening and 33 affected children identified clinically, as well as 94 children with false positive newborn screening results and 81 unaffected children with normal newborn screening results. They also analysed parental stress levels in a total of 254 mothers and 153 fathers of these children.

Among the screening group, the most frequent disorders were acyl-CoA dehydrogenase deficiencies with 20 medium-chain (MCADD) cases, 5 positive and 2 presumptive very long-chain cases, and 4 positive and 1 presumptive short-chain cases. Among children in the clinically identified group the most frequent disorders were 6 cases of propionic acidemia, 5 cases of MCADD, and 4 cases of glutaric acidemia type II.

Overall, 28% of the screened group and 55% of the clinically identified group required hospitalisation within 6 months of birth, with those in the screened group receiving treatment a median of 4 months sooner than the clinically identified group. While the groups were not significantly different in the medical treatment regimens required, the investigators report those clinically identified group were at least 3 times more likely to need additional interventions or special services. In the screening group 1 child performed in the range of mental retardation compared with 8 in the clinically identified group.

Among the children with false-positive newborn screening, 21% underwent hospitalisation compared with 10% of the children with normal results.

On the Parental Stress Index, mothers of affected children in the screened group reported lower overall stress than mothers of the clinically identified group and mothers of false-positive children reported higher levels of stress than mothers of children with normal screens (P < .001 for both comparisons). Fathers did not show significant differences in stress levels in either comparison.

These short-term preliminary results indicate that children with biochemical genetic disorders may experience fewer developmental and health problems when their disorders are identified by newborn screening, and that such screening confers benefits to the parents of these children. The authors suggest, however, that "long-term follow-up is needed to determine if children identified and treated on the basis of newborn screening continue to experience better health and development than children identified because of clinical symptoms."

JAMA 2003;290:2564-2572.

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