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Expanded newborn screening: outcome in screened and unscreened patients at age 6 years
Bridget Wilcken1, Marion Haas, Pamela Joy
1Department of Biochemical Genetics, Children's Hospital at Westmead, Sydney, Australia. bridgetw@chw.edu.au
Insights
Newborn screening using tandem mass spectrometry significantly improves long-term outcomes for infants with inborn errors, reducing deaths and disabilities by age six.
Area of Science:
- Biomedical Science
- Clinical Medicine
- Pediatrics
Background:
- Tandem mass spectrometry (TMS) is a common method for newborn screening.
- Long-term outcome studies for infants identified through TMS screening are limited.
- Assessing the 6-year clinical outcomes of screened versus unscreened infants is crucial.
Purpose of the Study:
- To evaluate the long-term clinical outcomes at six years of age for infants screened using tandem mass spectrometry.
- To compare the intellectual and physical condition, school placement, and other health indicators between screened and unscreened cohorts.
Main Methods:
- A cohort study analyzed over 2 million infants born between 1994 and 2002 in Australia.
- Infants were categorized as screened or unscreened, with data collected on clinical condition, growth, and medical history up to age six.
- Outcomes were analyzed for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other inborn errors, distinguishing between early-onset, later-diagnosed, and benign disorders.
Main Results:
- Screening identified a higher incidence of inborn errors (15.2/100,000) compared to unscreened infants (7.5/100,000), excluding phenylketonuria.
- Excluding MCADD, screened infants had significantly fewer deaths or severe disabilities (0.43/100,000) compared to unscreened infants (1.35/100,000).
- Normal growth distribution was observed across all studied cohorts.
Conclusions:
- Newborn screening with tandem mass spectrometry leads to improved clinical outcomes at six years of age.
- TMS screening effectively reduces mortality and the incidence of significant disabilities in infants with inborn errors.
- Early detection through TMS screening positively impacts long-term health and development in affected children.
Objective:
Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia.
Methods:
In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by clinical diagnosis among >2 million infants born from 1994 to 1998 (1,017,800, all unscreened) and 1998 to 2002 (461,500 screened, 533,400 unscreened) recording intellectual and physical condition, school placement, other medical problems, growth, treatment, diet, and hospital admissions. Results were analyzed separately for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other disorders, and grouped patients as those who presented clinically or died in the first 5 days of life; patients presented later or diagnosed by screening, and those with substantially benign disorders.
Results:
Inborn errors, excluding phenylketonuria, were diagnosed in 116 of 1,551,200 unscreened infants (7.5/100,000 births) and 70 of 461,500 screened infants (15.2/100,000 births). Excluding MCADD, 21 unscreened patients with metabolic disorders diagnosed after 5 days of life died or had a significant intellectual or physical handicap (1.35/100,000 population) compared with 2 of the screened cohort (0.43/100,000; odds ratio: 3.1 [95% CI: 0.73-13.32]). Considering the likely morbidity or mortality among the expected number of never-diagnosed unscreened patients, there would be a significant difference. Growth distribution was normal in all cohorts.
Conclusion:
Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities.
