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
Autori
Miletić, AleksandraCuturilo, Goran
Ruml Stojanović, Jelena
Drakulić, Danijela
Mijović, Marija
Bosankić, Brankica
Petrović, Hristina
Stevanović, Milena
Konferencijski prilog (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
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 P...311 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.
Ključne reči:
heart disease / newborns / SerbiaIzvor:
European Journal of Human Genetics, 2023, 31, Suppl 1, 140-140Izdavač:
- Springer Nature
Finansiranje / projekti:
- Ministarstvo nauke, tehnološkog razvoja i inovacija Republike Srbije, institucionalno finansiranje - 200042 (Univerzitet u Beogradu, Institut za molekularnu genetiku i genetičko inženjerstvo) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (MIKRONEURO_no. 01-2021)
Napomena:
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .