Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Genetic Testing
Genetics, Population
Neonatal Screening
Neuromuscular Diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
12
08
2022
accepted:
06
11
2022
medline:
23
6
2023
pubmed:
23
11
2022
entrez:
22
11
2022
Statut:
ppublish
Résumé
Spinal muscular atrophy (SMA) is due to the homozygous absence of The screening test was performed by an in-house-developed qPCR assay, amplifying We found 15 patients/90885 newborns (incidence 1:6059) having the following The molecular diagnosis of SMA needs to adapt to the new era of the disease with specific guidelines and standard operating procedures. In detail, SMA diagnosis should be felt as a true medical urgency due to therapeutic implications;
Sections du résumé
BACKGROUND
Spinal muscular atrophy (SMA) is due to the homozygous absence of
METHODS
The screening test was performed by an in-house-developed qPCR assay, amplifying
RESULTS
We found 15 patients/90885 newborns (incidence 1:6059) having the following
CONCLUSION
The molecular diagnosis of SMA needs to adapt to the new era of the disease with specific guidelines and standard operating procedures. In detail, SMA diagnosis should be felt as a true medical urgency due to therapeutic implications;
Identifiants
pubmed: 36414255
pii: jmg-2022-108873
doi: 10.1136/jmg-2022-108873
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
697-705Investigateurs
Maria Accardo
(M)
Beatrice Gambi
(B)
Simonetta Giampaoli
(S)
Ubah Farah Ahmed
(UF)
Carlo Giannini
(C)
Concetta Alecci
(C)
Valerio Giardini
(V)
Antonella Amendolea
(A)
Monica Guarguagli
(M)
Monica Bartolucci
(M)
Cristina Haass
(C)
Ivana Belisario
(I)
Isabella Innocenti
(I)
Paola Belluomini
(P)
Maria Cristina Innocenti Berti
(MC)
Claudia Bernardini
(C)
Claudia Maggi
(C)
Roberto Bernardini
(R)
Letizia Magi
(L)
Luisa Bertò
(L)
Roccuccia Malorgio
(R)
Rita Bini
(R)
Giovanna Maragliano
(G)
Leonardo Bolgia
(L)
Vita Maraglino
(V)
Mario Boscioni
(M)
Anna Marotta
(A)
Giorgio Bracaglia
(G)
Cristina Martini
(C)
Elisa Brachini
(E)
Palmina Martufi
(P)
Elisa Bruschi
(E)
Stefania Mastropasqua
(S)
Monica Campa
(M)
Maria Rosaria Matera
(MR)
Monica Caprilli
(M)
Graziano Memmini
(G)
Simona Carcione
(S)
Angela Mendicino
(A)
Angelo Cardiello
(A)
Sabrina Mercurio
(S)
Francesco Cartolano
(F)
Alessandra Meucci
(A)
Alessandra Casati
(A)
Osvaldo Milita
(O)
Sandra Ceccarelli
(S)
Zeudi Morano
(Z)
Marzia Chiellini
(M)
Eleonora Nardi
(E)
Rossella Ciccotti
(R)
Sandra Novelli
(S)
Elena Cioli
(E)
Luigi Padovano
(L)
Flavio Civitelli
(F)
Maria Gabriella Palermo
(MG)
Maria Giovanna Colella
(MG)
Serena Pascucci
(S)
Luigina Coppotelli
(L)
Caterini Patrizia
(C)
Francesco Crescenzi
(F)
Assunta Percoco
(A)
Stefania Petrolati
(S)
Roberto Danieli
(R)
Rosanna Pitaro
(R)
Tamara De Angelis
(T)
Marilena Raponi
(M)
Mauro De Martinis
(M)
Francesco Riccobene
(F)
Elena degl'Innocenti
(E)
Giovanni Rosa
(G)
Laura Del Sette
(LD)
Amanda Roversi
(A)
Ambrogio Di Paolo
(AD)
Sabrina Sadocco
(S)
Luigi Di Ruzza
(LD)
Emanuela Santarelli
(E)
Rosalia Di Silvio
(RD)
Luca Tafi
(L)
Dituri Francesco
(D)
Barbara Tomasini
(B)
Gwenna Egho
(G)
Martha Traupe
(M)
Daniela Emili
(D)
Angelina Vaccaro
(A)
Luca Filippo
(L)
Pierluigi Vasarri
(P)
Claudia Foglia
(C)
Valentina Ventura
(V)
Francesco Gabriellini
(F)
Stefano Vitale
(S)
Luigi Gagliardi
(L)
Anna Maria Zingoni
(AM)
Annamaria Gallo
(A)
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.