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Screening Newborns Questioned

New research shows screening newborns for biochemical genetic disorders may improve a child’s outcome //and reduce stress in parents. However, researchers say false-positive screening results may increase stress levels in parents.

Previously, screening for genetic disorders required a separate test, but now, doctors can screen for up to 20 genetic disorders with just one sample of blood by using a device called the tandem mass spectrometry. Currently, 24 states are using the expanded newborn screening test.

Researchers from Children’s Hospital in Boston conducted a study to determine how screening for biochemical genetic disorders affects newborns and their families.

Researchers interviewed more than 250 mothers and more than 150 fathers who had children with genetic disorders, which were identified either clinically or by using expanded newborn screening. Overall, 50 affected children had been identified through expanded newborn screening, and 33 affected children were identified clinically. Some of the parents studied received false-positive newborn screening results. A false-positive result was defined as initial out-of-range screening results that did not signify a disorder upon further evaluation.

Results of the study show, within the first six months of life, 28 percent of children with genetic disorders who were identified with expanded newborn screening required hospitalization. In contrast, 55 percent of children clinically identified with genetic disorders required hospitalization. Researchers also say only one child identified by newborn screening, compared with eight identified clinically, performed in the range of mental retardation.

Results also show mothers in the screened group reported lower overall stress than those in the clinically identified group. Children with false-positive results were twice as likely to be hospitalized than those with normal results. Mothers of children in the false-positiv e group also reported higher stress levels.

Researchers thus conclude, “This study highlights some of the challenges to current newborn screening practices. It demonstrates a need for education about newborn screening for parents prior to the birth of their child.”


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