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Review
. 2018 Dec 12;4(4):40.
doi: 10.3390/ijns4040040. eCollection 2018 Dec.

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

Maartje Blom  1   2 , Robbert G M Bredius  3 , Gert Weijman  4 , Eugènie H B M Dekkers  5 , Evelien A Kemper  6 , M Elske van den Akker-van Marle  7 , Catharina P B van der Ploeg  8 , Mirjam van der Burg  1 , Peter C J I Schielen  2
Affiliations
Review

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

Maartje Blom et al. Int J Neonatal Screen. .

Abstract

The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands.

Keywords: SCID; SONNET study; T-cell receptor excision circles; TREC; newborn screening; severe combined immunodeficiency.

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Conflict of interest statement

Conflicts of InterestThe authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The primary process of the Dutch newborn screening program. Expecting parents will receive information about the newborn screening program during the first [1] and second consultation with the midwife [2]. The first information brochure briefly mentions newborn screening, whereas the second brochure elaborates on the objectives, disorders and newborn screening process. During registration of a newborn at city hall, the second information brochure will be handed out as well (3). The screening organisations (5) will be informed about the registration of the newborn at city hall (4), after which screeners will visit the parents at home or in the hospital (6). They will perform the heel prick and send the heel prick card by post to one of the five screening laboratories (7). The heel prick cards are then analysed and the results are registered in the laboratory information system (LIMS) and the national monitoring database Praeventis (8). Abnormal results are forwarded to the general practitioner (GP) (9a) and paediatrician (9b) by the medical advisor. Medical advisors coordinate logistics of the referral procedure. GPs will visit the parents and their newborn (10) and inform them about the referral of their newborn to the paediatrician within the pre-set referral time (11).
Figure 2
Figure 2
Comparison of TREC-levels in 1272 heel prick cards analysed with both SCID screening assays. Data in the diagram are displayed in a scatter-plot with EnLite Neonatal TREC analyses on the x-axis and SCREEN-ID analyses on the y-axis.
Figure 3
Figure 3
A flow chart of the TREC-assay and the referral procedure. Premature infants are newborns with gestational age ≤36 weeks and birth weight ≤2500 g. TREC are T-cell receptor excision circles and ACTB is β-actin, the internal reference control.
See this image and copyright information in PMC

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