TY  - CONF
AU  - Miletić, Aleksandra
AU  - Cuturilo, Goran
AU  - Ruml Stojanović, Jelena
AU  - Drakulić, Danijela
AU  - Mijović, Marija
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2180
AB  - Background/Objectives: Genetic tests may facilitate rapid and
effective diagnostics but unfortunately their high costs usually
limit their application in all patients (1). We aimed to investigate
the utility of rapid, cost effective and high sensitive Multiplex
ligation probe amplification analysis (MLPA) for detection copy
number variants (CNV) in newborns with critical CHD, admitted to
the Neonatal Intensive Care Unit (NICU).
Methods: Study included 100 consecutive newborns admitted
to the NICU, University Children’s Hospital in Belgrade from
August 2014 to September 2019. Patients with viable trisomies
(21, 18 and 13) were excluded. All participants were tested by
MLPA analysis using SALSA MLPA P250-B2 Di George and SALSA
MLPA P311-B1 Congenital Heart Disease probemixes (MRC Holland,
The Netherland).
Results: Pathogenic CNVs were identified in ten (10%) patients.
Nine of them had 22q11.2 deletion detected by both kits while
one patient had 3p25 deletion detected by P311 kit.
Conclusion: Genetic evaluation of all newborns with critical
CHD admitted to the NICU by rapid and inexpensive MLPA analysis
using combination P250 and P311 SALSA probemixes could
contribute to high detection rate of pathogenic variants.
PB  - Springer Nature
C3  - European Journal of Human Genetics
T1  - 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis
EP  - 140
IS  - Suppl 1
SP  - 140
VL  - 31
DO  - 10.1038/s41431-023-01339-3
ER  - 

@conference{
author = "Miletić, Aleksandra and Cuturilo, Goran and Ruml Stojanović, Jelena and Drakulić, Danijela and Mijović, Marija and Bosankić, Brankica and Petrović, Hristina and Stevanović, Milena",
year = "2023",
abstract = "Background/Objectives: Genetic tests may facilitate rapid and
effective diagnostics but unfortunately their high costs usually
limit their application in all patients (1). We aimed to investigate
the utility of rapid, cost effective and high sensitive Multiplex
ligation probe amplification analysis (MLPA) for detection copy
number variants (CNV) in newborns with critical CHD, admitted to
the Neonatal Intensive Care Unit (NICU).
Methods: Study included 100 consecutive newborns admitted
to the NICU, University Children’s Hospital in Belgrade from
August 2014 to September 2019. Patients with viable trisomies
(21, 18 and 13) were excluded. All participants were tested by
MLPA analysis using SALSA MLPA P250-B2 Di George and SALSA
MLPA P311-B1 Congenital Heart Disease probemixes (MRC Holland,
The Netherland).
Results: Pathogenic CNVs were identified in ten (10%) patients.
Nine of them had 22q11.2 deletion detected by both kits while
one patient had 3p25 deletion detected by P311 kit.
Conclusion: Genetic evaluation of all newborns with critical
CHD admitted to the NICU by rapid and inexpensive MLPA analysis
using combination P250 and P311 SALSA probemixes could
contribute to high detection rate of pathogenic variants.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetics",
title = "22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis",
pages = "140-140",
number = "Suppl 1",
volume = "31",
doi = "10.1038/s41431-023-01339-3"
}

Miletić, A., Cuturilo, G., Ruml Stojanović, J., Drakulić, D., Mijović, M., Bosankić, B., Petrović, H.,& Stevanović, M.. (2023). 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis. in European Journal of Human Genetics
Springer Nature., 31(Suppl 1), 140-140.
https://doi.org/10.1038/s41431-023-01339-3

Miletić A, Cuturilo G, Ruml Stojanović J, Drakulić D, Mijović M, Bosankić B, Petrović H, Stevanović M. 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis. in European Journal of Human Genetics. 2023;31(Suppl 1):140-140.
doi:10.1038/s41431-023-01339-3 .

Miletić, Aleksandra, Cuturilo, Goran, Ruml Stojanović, Jelena, Drakulić, Danijela, Mijović, Marija, Bosankić, Brankica, Petrović, Hristina, Stevanović, Milena, "22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis" in European Journal of Human Genetics, 31, no. Suppl 1 (2023):140-140,
https://doi.org/10.1038/s41431-023-01339-3 . .