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Clin Immunol. 2019 Apr 1;202:33-39. doi: 10.1016/j.clim.2019.03.012. [Epub ahead of print]

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.

Author information

1
Service d'oncologie-hématologie et immunologie pédiatrique, CHU Nantes, Nantes, France. Electronic address: caroline.thomas@chu-nantes.fr.
2
AP-HP, URCECo Ile de France, Paris, France.
3
Laboratoire de dépistage néonatal, CHU Nantes, Nantes, France.
4
Service d'oncologie-hématologie et immunologie pédiatrique, CHU Nantes, Nantes, France.
5
Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.
6
CEDI, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France; Institut Imagine, INSERM, U1162 Paris, France; Centre de référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
7
Centre de référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
8
Direction de la Recherche, Cellule Innovation, CHU Nantes, Nantes, France.
9
AFDPHE, Paris, France.
10
Plateforme de Méthodologie et Biostatistique, Direction de la Recherche, CHU Nantes, Nantes, France.
11
Institut Imagine, INSERM, U1162 Paris, France; Centre de référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Unité d'Immunologie-Hématologie et Rhumatologie pédiatrique, Hôpital universitaire Necker- Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Collège de France, Paris, France.
12
Laboratoire d'Immunologie, CHU Nantes, Nantes, France.

Abstract

PURPOSE:

Severe combined immunodeficiency (SCID) refers to a group of genetic disorders characterized by greatly compromised cellular and humoral immunity. Children with SCID are asymptomatic at birth, but they die from infections within the first months of life if not treated. Quantification of T-cell receptor excision circles is an extremely sensitive screening method for detecting newborns who may have SCID.The goal of the DEPISTREC study was to evaluate the feasibility of nationwide newborn screening for severe T-cell lymphopenia in France as well as its economic and clinical utility.

METHODS:

The test universally used for neonatal screening for SCID was the quantification of TRECs on Guthrie cards. We compared a group of 190,517 babies from 48 maternities across the country who underwent newborn SCID screening with a control group of 1.4 million babies out of whom 28 were diagnosed with SCID without such screening during the course of the study.

RESULTS:

Within the screening group, 62 babies were found to be lymphopenic, including three with SCID. The cost of screening ranged from 4.7€ to €8.15 per newborn. The average 18-month cost was €257,574 vs €204,697 in the control group.

CONCLUSIONS:

In this large-scale study, we demonstrate that routine SCID screening is feasible and effective. This screening offers the additional benefit of aiding in the diagnosis of non-SCID lymphopenia. Economic evaluation allowed us to calculate the cost per test. Newborn screening may also prevent death by SCID before any curative treatment can be administered. The difference in cost between screened and control children could not be ascertained because of the very low numbers and death of one of the children tested.

KEYWORDS:

Clinical results; Economics; Newborn screening; SCID; TREC quantification

PMID:
30946917
DOI:
10.1016/j.clim.2019.03.012

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