Caroline Thomas1, Isabelle Durand-Zaleski2, Jérôme Frenkiel2, Sophie Mirallié3, Alexandra Léger4, David Cheillan5, Capucine Picard6, Nizar Mahlaoui7, Valéry-Pierre Riche8, Michel Roussey9, Véronique Sébille10, Hasina Rabetrano2, Cécile Dert8, Alain Fischer11, Marie Audrain12. 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.
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.
Authors: Maartje Blom; Rolf H Zetterström; Asbjørg Stray-Pedersen; Kimberly Gilmour; Andrew R Gennery; Jennifer M Puck; Mirjam van der Burg Journal: J Allergy Clin Immunol Date: 2021-09-16 Impact factor: 14.290
Authors: Ana Argudo-Ramírez; Andrea Martín-Nalda; Jose L Marín-Soria; Rosa M López-Galera; Sonia Pajares-García; Jose M González de Aledo-Castillo; Mónica Martínez-Gallo; Marina García-Prat; Roger Colobran; Jacques G Riviere; Yania Quintero; Tatiana Collado; Judit García-Villoria; Antonia Ribes; Pere Soler-Palacín Journal: Front Immunol Date: 2019-10-22 Impact factor: 7.561
Authors: M H D Schoenaker; M Blom; M C de Vries; C M R Weemaes; M van der Burg; M A A P Willemsen Journal: Eur J Pediatr Date: 2019-11-11 Impact factor: 3.183
Authors: Janne Strand; Kiran Aftab Gul; Hans Christian Erichsen; Emma Lundman; Mona C Berge; Anette K Trømborg; Linda K Sørgjerd; Mari Ytre-Arne; Silje Hogner; Ruth Halsne; Hege Junita Gaup; Liv T Osnes; Grete A B Kro; Hanne S Sorte; Lars Mørkrid; Alexander D Rowe; Trine Tangeraas; Jens V Jørgensen; Charlotte Alme; Trude E H Bjørndalen; Arild E Rønnestad; Astri M Lang; Terje Rootwelt; Jochen Buechner; Torstein Øverland; Tore G Abrahamsen; Rolf D Pettersen; Asbjørg Stray-Pedersen Journal: Front Immunol Date: 2020-07-09 Impact factor: 7.561
Authors: Janette S Y Kwok; Stephen K F Cheung; Jenny C Y Ho; Ivan W H Tang; Patrick W K Chu; Eric Y S Leung; Pamela P W Lee; Daniel K L Cheuk; Vincent Lee; Patrick Ip; Y L Lau Journal: Front Immunol Date: 2020-07-16 Impact factor: 7.561
Authors: Maartje Blom; Michiel H D Schoenaker; Myrthe Hulst; Martine C de Vries; Corry M R Weemaes; Michèl A A P Willemsen; Lidewij Henneman; Mirjam van der Burg Journal: Front Immunol Date: 2019-11-06 Impact factor: 7.561
Authors: Anna A Mukhina; Natalya B Kuzmenko; Yulia A Rodina; Irina V Kondratenko; Andrei A Bologov; Tatiana V Latysheva; Andrei P Prodeus; Alexander N Pampura; Dmitrii N Balashov; Natalya I Ilyina; Elena A Latysheva; Ekaterina A Deordieva; Oksana A Shvets; Elena V Deripapa; Irina N Abramova; Olga E Pashenko; Svetlana S Vahlyarskaya; Natalya V Zinovyeva; Sergei B Zimin; Elena V Skorobogatova; Elena B Machneva; Daria S Fomina; Maria G Ipatova; Ludmila Yu Barycheva; Ludmila S Khachirova; Irina A Tuzankina; Michail A Bolkov; Natalya V Shakhova; Elena M Kamaltynova; Farida I Sibgatullina; Marina N Guseva; Raisa N Kuznetsova; Anzhelika M Milichkina; Areg A Totolian; Natalia M Kalinina; Evgenia A Goltsman; Ekatherina I Sulima; Anastasia Yu Kutlyanceva; Anna A Moiseeva; Anna L Khoreva; Zoya Nesterenko; Elena V Tymofeeva; A Ermakova; Dilyara D Proligina; Linara R Kalmetieva; Gulshat A Davletbaieva; Irina A Mirsayapova; Olga A Richkova; Ksenia P Kuzmicheva; Maria A Grakhova; Natalya B Yudina; Ekaterina A Orlova; Olga S Selezneva; Svetlana G Piskunova; Tatiana V Samofalova; Tatiana V Bukina; Anna D Pechkurova; N Migacheva; A Zhestkov; Elena V Barmina; Natalya A Parfenova; Svetlana N Isakova; Elena V Averina; Irina V Sazonova; Svetlana Yu Starikova; Tatiana V Shilova; Tatiana V Asekretova; Roman N Suprun; Elena I Kleshchenko; Vladimir V Lebedev; Elena V Demikhova; Valerii G Demikhov; Veronica A Kalinkina; Alla V Gorenkova; Svetlana N Duryagina; Tatiana B Pavlova; Vera M Shinkareva; Irina V Smoleva; Tatiana P Aleksandrova; Zema V Bambaeva; Marina A Philippova; Elena M Gracheva; Galina I Tcyvkina; Alexey V Efremenkov; D Mashkovskaya; Irina V Yarovaya; Valentina A Alekseenko; Ivan V Fisyun; Galina V Molokova; Ekatherina V Troitskya; Ludmila I Piatkina; Elena V Vlasova; O Ukhanova; Ekaterina G Chernishova; M Vasilieva; Olga M Laba; E Volodina; Ekaterina V Safonova; Kirill A Voronin; Maria V Gurkina; Alexander G Rumyantsev; Galina A Novichkova; Anna Yu Shcherbina Journal: Front Immunol Date: 2020-08-06 Impact factor: 7.561