Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR.
Clin Chem
; 61(1): 182-90, 2015 Jan.
Article
em En
| MEDLINE
| ID: mdl-25388430
ABSTRACT
BACKGROUND:
The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatment. Owing to the high impact of 22q11DS on public health, propositions have been made to include 22q11DS in newborn screening panels; however, the method of choice for detecting 22q11DS, fluorescent in situ hybridization, requires specialized equipment and is cumbersome for most laboratories to implement as part of their routine screening. We sought to develop a new genetic screen for 22q11DS that is rapid, cost-effective, and easily used by laboratories currently performing newborn screening.METHODS:
We evaluated the accuracy of multiplex droplet digital PCR (ddPCR) in the detection of copy number of 22q11DS by screening samples from 26 patients with 22q11DS blindly intermixed with 1096 blood spot cards from the general population (total n = 1122).RESULTS:
Multiplex ddPCR correctly identified all 22q11DS samples and distinguished between 1.5- and 3-Mb deletions, suggesting the approach is sensitive and specific for the detection of 22q11DS.CONCLUSIONS:
These data demonstrate the utility of multiplex ddPCR for large-scale population-based studies that screen for 22q11DS. The use of samples from blood spot cards suggests that this approach has promise for newborn screening of 22q11DS, and potentially for other microdeletion syndromes, for which early detection can positively impact clinical outcome for those affected.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 22
/
DNA
/
Reação em Cadeia da Polimerase
/
Síndrome de DiGeorge
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Teste em Amostras de Sangue Seco
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Clin Chem
Assunto da revista:
QUIMICA CLINICA
Ano de publicação:
2015
Tipo de documento:
Article