Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit
Нема приказа
Аутори
Miletić, AleksandraRuml 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
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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 fir...st-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%.
Кључне речи:
MLPA / Intensive care unit / Congenital heart defectsИзвор:
European Journal of Pediatrics, 2021, 180, 10, 3219-3227Издавач:
- Springer, New York
Финансирање / пројекти:
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
DOI: 10.1007/s00431-021-04097-w
ISSN: 0340-6199
PubMed: 33963417
WoS: 000648262400001
Scopus: 2-s2.0-85105429508
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .