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Danish expanded newborn screening is a successful preventive public health programme
Allan Lund1, Flemming Wibrand, Kristin Skogstrand
1allan.lund@regionh.dk.
Insights
Expanded newborn screening (eNBS) effectively diagnoses treatable metabolic diseases in newborns. Early intervention significantly reduces long-term health issues, confirming eNBS as a vital public health program.
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- Newborn screening is a critical public health initiative for the early detection of treatable diseases.
- Expanded newborn screening (eNBS) for metabolic disorders was implemented in Denmark.
- The study evaluated a large cohort of newborns screened between 2002 and 2019.
Purpose of the Study:
- To assess the effectiveness and outcomes of expanded newborn screening (eNBS) for metabolic diseases.
- To determine the prevalence, positive predictive value, and false positive rates of eNBS.
- To compare the outcomes of screened newborns with unscreened and historic cohorts.
Main Methods:
- Screened 967,780 newborns between 2002-2019, including a pilot phase and routine screening.
- Included a historic cohort (1992-2001) and an unscreened cohort (82,930 newborns) for comparison.
- Analyzed dried blood spot samples, recording true positives, false positives, and false negatives, with clinical follow-up.
Main Results:
- The overall prevalence of eNBS panel diseases was 1:3,900, higher than in the historic cohort (1:8,300).
- The positive predictive value (PPV) improved from 41% to 62% by 2018, with a low false positive rate (FPR) of 0.036% overall.
- 93% of screened children had no significant sequelae; however, 27 unscreened newborns had severe manifestations of eNBS diseases.
Conclusions:
- Expanded newborn screening (eNBS) is a successful public health program in Denmark.
- Early diagnosis and treatment of metabolic diseases during the latent phase are highly effective.
- The study recommends extending eNBS to include additional diseases not currently screened.
Introduction:
Newborn screening is a public health programme for early diagnosis of treatable diseases.
Methods:
The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009, followed by routine screening with informed dissent. A total of 967,780 newborns were screened; 82,930 were unscreened. Furthermore, a historic cohort of clinically diagnosed children born in the 1992-2001 period was included. Children in the unscreened and historic cohorts were evaluated for the same diseases as were the screened children. Dried blood spot samples were collected locally and sent for screening analyses. We recorded newborns with true and false positive results as well as false negative results and their clinical signs at screening and at the last follow-up.
Results:
A total of 603 samples were screen positive: 354 false positives and 249 true positives (222 newborns and 27 mothers). The positive predictive value (PPV) was 41% for the entire screening period; 62% for 2018. The false positive rate (FPR) was 0.036% overall; 0.024% for 2018. The overall prevalence of diseases was 1:3,900; in the historic cohort, the prevalence of the same diseases was 1:8,300; 7.3% had symptoms at the time of screening. At follow-up, 93% of the children had no clinically significant sequelae. Among 82,930 unscreened newborns, 27 (1:3,000) had eNBS panel diseases, some with severe manifestations.
Conclusions:
This update of eNBS in Denmark confirms that eNBS is a successful preventive public health programme. Early treatment in a latent phase of disease is effective and screening should be extended to other diseases not currently in the programme.
Funding:
The work was supported by grants from The Ronald McDonald Børnefond, Danmarks Sundhedsfond, Direktør Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises Børnehospitals Forskningsfond, Læge Sofus Carl Emil Friis og Hustru Olga Doris Friis's Legat, Aase and Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanførefonden, Fonden til Lægevidenskabens Fremme and Danish Medical Research Council.
Trial Registration:
not relevant.
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