TY  - JOUR
AU  - Miletić, Aleksandra
AU  - Ruml Stojanović, Jelena
AU  - Parezanović, Vojislav
AU  - Rsovac, Snežana
AU  - Drakulić, Danijela
AU  - Soldatović, Ivan
AU  - Mijović, Marija
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Borlja, Nikola
AU  - Milivojević, Milena
AU  - Marjanović, Ana
AU  - Branković, Marija
AU  - Cuturilo, Goran
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1414
AB  - Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing. The most common variant detected was deletion of 22q11.2 region. Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU. What is Known: center dot MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown. What is New: center dot Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.
PB  - Springer, New York
T2  - European Journal of Pediatrics
T1  - Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit
EP  - 3227
IS  - 10
SP  - 3219
VL  - 180
DO  - 10.1007/s00431-021-04097-w
ER  - 

@article{
author = "Miletić, Aleksandra and Ruml Stojanović, Jelena and Parezanović, Vojislav and Rsovac, Snežana and Drakulić, Danijela and Soldatović, Ivan and Mijović, Marija and Bosankić, Brankica and Petrović, Hristina and Borlja, Nikola and Milivojević, Milena and Marjanović, Ana and Branković, Marija and Cuturilo, Goran",
year = "2021",
abstract = "Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing. The most common variant detected was deletion of 22q11.2 region. Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU. What is Known: center dot MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown. What is New: center dot Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.",
publisher = "Springer, New York",
journal = "European Journal of Pediatrics",
title = "Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit",
pages = "3227-3219",
number = "10",
volume = "180",
doi = "10.1007/s00431-021-04097-w"
}

Miletić, A., Ruml Stojanović, J., Parezanović, V., Rsovac, S., Drakulić, D., Soldatović, I., Mijović, M., Bosankić, B., Petrović, H., Borlja, N., Milivojević, M., Marjanović, A., Branković, M.,& Cuturilo, G.. (2021). Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit. in European Journal of Pediatrics
Springer, New York., 180(10), 3219-3227.
https://doi.org/10.1007/s00431-021-04097-w

Miletić A, Ruml Stojanović J, Parezanović V, Rsovac S, Drakulić D, Soldatović I, Mijović M, Bosankić B, Petrović H, Borlja N, Milivojević M, Marjanović A, Branković M, Cuturilo G. Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit. in European Journal of Pediatrics. 2021;180(10):3219-3227.
doi:10.1007/s00431-021-04097-w .

Miletić, Aleksandra, Ruml Stojanović, Jelena, Parezanović, Vojislav, Rsovac, Snežana, Drakulić, Danijela, Soldatović, Ivan, Mijović, Marija, Bosankić, Brankica, Petrović, Hristina, Borlja, Nikola, Milivojević, Milena, Marjanović, Ana, Branković, Marija, Cuturilo, Goran, "Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit" in European Journal of Pediatrics, 180, no. 10 (2021):3219-3227,
https://doi.org/10.1007/s00431-021-04097-w . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Drakulić, Danijela
AU  - Krstić, Aleksandar
AU  - Gradinac, Marija
AU  - Ilisić, Tamara
AU  - Parezanović, Vojislav
AU  - Milivojević, Milena
AU  - Stevanović, Milena
AU  - Jovanović, Ida
PY  - 2013
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/678
AB  - Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The "lesser form" is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with "lesser form" of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.
PB  - Cambridge Univ Press, Cambridge
T2  - Cardiology in the Young
T1  - The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2
EP  - 188
IS  - 2
SP  - 181
VL  - 23
DO  - 10.1017/S1047951112000571
ER  - 

@article{
author = "Cuturilo, Goran and Drakulić, Danijela and Krstić, Aleksandar and Gradinac, Marija and Ilisić, Tamara and Parezanović, Vojislav and Milivojević, Milena and Stevanović, Milena and Jovanović, Ida",
year = "2013",
abstract = "Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The "lesser form" is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with "lesser form" of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.",
publisher = "Cambridge Univ Press, Cambridge",
journal = "Cardiology in the Young",
title = "The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2",
pages = "188-181",
number = "2",
volume = "23",
doi = "10.1017/S1047951112000571"
}

Cuturilo, G., Drakulić, D., Krstić, A., Gradinac, M., Ilisić, T., Parezanović, V., Milivojević, M., Stevanović, M.,& Jovanović, I.. (2013). The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. in Cardiology in the Young
Cambridge Univ Press, Cambridge., 23(2), 181-188.
https://doi.org/10.1017/S1047951112000571

Cuturilo G, Drakulić D, Krstić A, Gradinac M, Ilisić T, Parezanović V, Milivojević M, Stevanović M, Jovanović I. The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. in Cardiology in the Young. 2013;23(2):181-188.
doi:10.1017/S1047951112000571 .

Cuturilo, Goran, Drakulić, Danijela, Krstić, Aleksandar, Gradinac, Marija, Ilisić, Tamara, Parezanović, Vojislav, Milivojević, Milena, Stevanović, Milena, Jovanović, Ida, "The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2" in Cardiology in the Young, 23, no. 2 (2013):181-188,
https://doi.org/10.1017/S1047951112000571 . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Menten, Bjorn
AU  - Krstić, Aleksandar
AU  - Drakulić, Danijela
AU  - Jovanović, Ida
AU  - Parezanović, Vojislav
AU  - Stevanović, Milena
PY  - 2011
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/494
AB  - Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).
PB  - Springer, New York
T2  - European Journal of Pediatrics
T1  - 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
EP  - 1470
IS  - 11
SP  - 1465
VL  - 170
DO  - 10.1007/s00431-011-1533-3
ER  - 

@article{
author = "Cuturilo, Goran and Menten, Bjorn and Krstić, Aleksandar and Drakulić, Danijela and Jovanović, Ida and Parezanović, Vojislav and Stevanović, Milena",
year = "2011",
abstract = "Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).",
publisher = "Springer, New York",
journal = "European Journal of Pediatrics",
title = "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome",
pages = "1470-1465",
number = "11",
volume = "170",
doi = "10.1007/s00431-011-1533-3"
}

Cuturilo, G., Menten, B., Krstić, A., Drakulić, D., Jovanović, I., Parezanović, V.,& Stevanović, M.. (2011). 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics
Springer, New York., 170(11), 1465-1470.
https://doi.org/10.1007/s00431-011-1533-3

Cuturilo G, Menten B, Krstić A, Drakulić D, Jovanović I, Parezanović V, Stevanović M. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics. 2011;170(11):1465-1470.
doi:10.1007/s00431-011-1533-3 .

Cuturilo, Goran, Menten, Bjorn, Krstić, Aleksandar, Drakulić, Danijela, Jovanović, Ida, Parezanović, Vojislav, Stevanović, Milena, "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome" in European Journal of Pediatrics, 170, no. 11 (2011):1465-1470,
https://doi.org/10.1007/s00431-011-1533-3 . .