MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease

Moldovan, Elena; Moldovan, Valeriu; Banescu, Claudia; Puscasiu, Lucian; Cucerea, Manuela

Elena Moldovan, Valeriu Moldovan, Claudia Banescu, Lucian Puscasiu, Manuela Cucerea

MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease

Abstract:

Congenital heart disease(CHD) is the most frequent malformative pathology seen in newborns, with an incidence of 10/1000 births, and is considered a major cause of neonatal morbidity and mortality. About one third of congenital heart disease cases are of genetic origin, particular copy number variations being described as possible nonsyndromic and syndromic congenital heart disease causes. Here, we set out to find whether the MLPA technique could be used as a first-tier screening assay in newborns with apparently nonsyndromic CHDs, and thus to genetically confirm the CHD diagnosis. The study cohort included 60 newborns diagnosed with apparently nonsyndromic congenital heart disease, recruited for a period of 18 months. MLPA analysis was performed using the SALSA MLPA P311 and P250 kits. 10 newborns (16.67%) showed known genetically relevant copy number variations, namely three patients with 22q11.21 deletion, that were diagnosed with DiGeorge syndrome, and seven patients with a probable single exon 8p23.1 duplication that will be subjected to further molecular testing, in order to correctly assess their diagnosis. We can conclude that the screening of patients with apparently nonsyndromic congenital heart disease may lead to their early and correct diagnosis, and thus them benefitting from the detection of clinically relevant copy number variations using the MLPA technique.

Keywords:
MLPA; newborn; congenital heart disease; DiGeorge syndrome; 22q11.21 deletion

Issue: 2020, Volume 71, Issue 2

Pages: 175-178

Publication date: 2020/3/3

https://doi.org/10.37358/RC.20.2.7912

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This article is published under the Creative Commons Attribution 4.0 International License

Citation Styles

Cite this article as:
MOLDOVAN, E., MOLDOVAN, V., BANESCU, C., PUSCASIU, L., CUCEREA, M., MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease, Rev. Chim., 71(2), 2020, 175-178.

Vancouver
Moldovan E, Moldovan V, Banescu C, Puscasiu L, Cucerea M. MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease. Rev. Chim.[internet]. 2020 Feb;71(2):175-178. Available from: https://doi.org/10.37358/RC.20.2.7912

APA 6th edition
Moldovan, E., Moldovan, V., Banescu, C., Puscasiu, L. & Cucerea, M. (2020). MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease. Revista de Chimie, 71(2), 175-178. https://doi.org/10.37358/RC.20.2.7912

Harvard
Moldovan, E., Moldovan, V., Banescu, C., Puscasiu, L., Cucerea, M. (2020). 'MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease', Revista de Chimie, 71(2), pp. 175-178. https://doi.org/10.37358/RC.20.2.7912

IEEE
E. Moldovan, V. Moldovan, C. Banescu, L. Puscasiu, M. Cucerea, "MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease". Revista de Chimie, vol. 71, no. 2, pp. 175-178, 2020. [online]. https://doi.org/10.37358/RC.20.2.7912

Text
Elena Moldovan, Valeriu Moldovan, Claudia Banescu, Lucian Puscasiu, Manuela Cucerea,
MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease,
Revista de Chimie,
Volume 71, Issue 2,
2020,
Pages 175-178,
ISSN 2668-8212,
https://doi.org/10.37358/RC.20.2.7912.
(https://revistadechimie.ro/Articles.asp?ID=7912)
Keywords: MLPA; newborn; congenital heart disease; DiGeorge syndrome; 22q11.21 deletion

RIS
TY - JOUR
T1 - MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease
A1 - Moldovan, Elena
A2 - Moldovan, Valeriu
A3 - Banescu, Claudia
A4 - Puscasiu, Lucian
A5 - Cucerea, Manuela
JF - Revista de Chimie
JO - Rev. Chim.
PB - Revista de Chimie SRL
SN - 2668-8212
Y1 - 2020
VL - 71
IS - 2
SP - 175
EP - 178
UR - https://doi.org/10.37358/RC.20.2.7912
KW - MLPA
KW - newborn
KW - congenital heart disease
KW - DiGeorge syndrome
KW - 22q11.21 deletion
ER -

BibTex
@article{RevCh2020P175,
author = {Moldovan Elena and Moldovan Valeriu and Banescu Claudia and Puscasiu Lucian and Cucerea Manuela},
title = {MLPA - first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease},
journal = {Revista de Chimie},
volume = {71},
number = {2},
pages = {175-178},
year = {2020},
issn = {2668-8212},
doi = {https://doi.org/10.37358/RC.20.2.7912},
url = {https://revistadechimie.ro/Articles.asp?ID=7912}
}

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