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Page 4 of 15 Magnifico et al. Rare Dis Orphan Drugs J 2023;2:16 https://dx.doi.org/10.20517/rdodj.2023.17
Figure 1. Venn diagram that shows the different sources of the articles.
Figure 2. Grouping of the papers’ categories.
Downie et al.’s systematic review “Principles of Genomic Newborn Screening Programs: a systematic
review” published in 2021 was considered the benchmark and the 36 final articles were included in our
initial database .
[21]
The three sources all together yielded 262 articles, some of which were duplicated in two or all the sources,
as shown in Figure 1. The final articles to be screened were 219.
Documents selection
The selection of articles to be included in the review followed two steps, both of which were performed
independently by two people:
(1) Titles screening
The first screening was made considering the title of the articles. Articles focusing on one disease only,
carrier screening, case reports, protocols only, and infective outbreaks in the Neonatal Intensive Care Unit
(NICU) were excluded. After this first step, 151 articles were excluded for relevance reasons.
(2) Abstracts screening
