Newborn Screening in a Pandemic—Lessons Learned

Author:

Mlinaric Matej12,Bonham James R.34,Kožich Viktor5ORCID,Kölker Stefan6ORCID,Majek Ondrej7,Battelino Tadej12ORCID,Torkar Ana Drole12,Koracin Vanesa8,Perko Dasa9ORCID,Remec Ziga Iztok9,Lampret Barbka Repic9,Scarpa Maurizio10ORCID,Schielen Peter C. J. I.3ORCID,Zetterström Rolf H.1112,Groselj Urh12ORCID

Affiliation:

1. Department of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Bohoričeva Ulica 20, 1000 Ljubljana, Slovenia

2. Faculty of Medicine, University of Ljubljana, Vrazov Trg 2, 1000 Ljubljana, Slovenia

3. Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands

4. Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK

5. Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine, and General University Hospital in Prague, Ke Karlovu 455/2, 128 08 Praha, Czech Republic

6. Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany

7. National Screening Centre, Institute of Health Information & Statistics of the Czech Republic, 128 01 Prague, Czech Republic

8. Department of Dermatovenerology, General Hospital Novo Mesto, 8000 Novo Mesto, Slovenia

9. Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, UMC Ljubljana, 1000 Ljubljana, Slovenia

10. Regional Coordinating Center for Rare Diseases, European Reference Network for Hereditary Metabolic Diseases (MetabERN), Udine University Hospital, Piazzale Santa Maria Della Misericordia 15, 33100 Udine, Italy

11. Center for Inherited Metabolic Diseases, Karolinska University Hospital, 141 86 Stockholm, Sweden

12. Department of Molecular Medicine and Surgery, Karolinska Institutet, 141 86 Stockholm, Sweden

Abstract

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start of the pandemic, but from the beginning, solutions began to be proposed and implemented. Contingency plans were arranged, and these are reviewed and described in this article. Staff shortage emerged as an important issue, and as a result, new work schedules had to be implemented. The importance of personal protective equipment and social distancing also helped avoid disruption. Staff became stressed, and this needed to be addressed. The timeframe for collecting bloodspot samples was adapted in some cases, requiring reference ranges to be modified. A shortage of essential supplies and protective equipment was evident, and laboratories described sharing resources in some situations. The courier system had to be adapted to make timely and safe transport possible. Telemedicine became an essential tool to enable communication with patients, parents, and medical staff. Despite these difficulties, with adaptations and modifications, some centers evaluated candidate conditions, continued developments, or began new NBS. The pandemic can be regarded as a stress test of the NBS under real-world conditions, highlighting critical aspects of this multidisciplinary system and the need for establishing local, national, and global strategies to improve its robustness and reliability in times of shortage and overloaded national healthcare systems.

Funder

Slovenian Research Agency Program

Publisher

MDPI AG

Subject

Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health

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