Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Oct;180(10):3219-3227.
doi: 10.1007/s00431-021-04097-w. Epub 2021 May 7.

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit

Aleksandra Miletic  1 , Jelena Ruml Stojanovic  1 , Vojislav Parezanovic  2   3 , Snezana Rsovac  4 , Danijela Drakulic  5 , Ivan Soldatovic  6 , Marija Mijovic  1 , Brankica Bosankic  1 , Hristina Petrovic  1 , Nikola Borlja  7 , Milena Milivojevic  5 , Ana Marjanovic  2 , Marija Brankovic  2 , Goran Cuturilo  8   9
Affiliations

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit

Aleksandra Miletic et al. Eur J Pediatr. 2021 Oct.

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: • 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: • Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.

Keywords: Congenital heart defects; Intensive care unit; MLPA.

PubMed Disclaimer

References

    1. Zaidi S, Brueckner M (2017) Genetics and genomics of congenital heart disease. Circ Res 120:923–940 - DOI
    1. Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire A, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine (2018) Genetic basis for congenital heart disease: revised. Circulation 138:e653–e711 - DOI
    1. Richards AA, Garg V (2010) Genetics of congenital heart disease. Curr Cardiol Rev 6:91–97 - DOI
    1. Jerves T, Beaton A, Kruszka P (2020) The genetic workup for structural congenital heart disease. Am J Med Genet C Semin Med Genet 184(1):178–186
    1. Ahrens-Nicklas RC, Khan S, Garbarini J, Woyciechowski S, D’Alesandro L, Zackai EH, Deardof MA, Deardorff MA, Goldmuntz E (2016) Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Am J Med Genet 9999A:1–8

LinkOut - more resources