Early fetal ultrasound screening for major congenital heart defects without Doppler

Author(s):  
Sofía García Fernández ◽  
Javier Arenas Ramirez ◽  
Maria T. Otero Chouza ◽  
Beatriz Rodriguez-Vijande Alonso ◽  
Ángel P. Llaneza Coto
Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 2021
Author(s):  
Katarzyna Kowalczyk ◽  
Magdalena Bartnik-Głaska ◽  
Marta Smyk ◽  
Izabela Plaskota ◽  
Joanna Bernaciak ◽  
...  

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.


2015 ◽  
Vol 41 (4) ◽  
pp. S140
Author(s):  
Nelangi Pinto ◽  
William Grobman ◽  
Sarah Ellestad ◽  
Amen Ness ◽  
Stephen Miller ◽  
...  

2012 ◽  
Vol 7 (6) ◽  
pp. 535-544
Author(s):  
José Manuel Martínez-Moratalla ◽  
David Escribano ◽  
Enery Gómez-Montes ◽  
Ignacio Herraiz ◽  
Alberto Galindo

2012 ◽  
Vol 25 (12) ◽  
pp. 2546-2550 ◽  
Author(s):  
Makarios Eleftheriades ◽  
Elsa Tsapakis ◽  
Alexandros Sotiriadis ◽  
Emmanouil Manolakos ◽  
Demetrios Hassiakos ◽  
...  

2018 ◽  
Vol 1 (1) ◽  
pp. 21-25
Author(s):  
Romina Sima

The congenital heart defect is one of the major causes of neonatal and pediatric mortality. A retrospective study of all the patients with singleton pregnancies, admitted in our hospital between 2010-2012 was performed. The data collected included information referring to the age of the patients, the gestational age, the cardiac diagnosis, the extracardiac anomalies, the prenatal and postnatal management and evolution. Out of 7,195 patients, 23 living newborns had CHDs (congenital heart defects). The mean gestational age was 34.12 weeks (range 30-39 weeks). We recorded VSD (ventricular septal defect) in 47.8% newborns, ASD (atrial septal defect) in 26.1% cases, TGA (transposition of great arteries) in 8.7% cases, coarctation of the aortic artery (COA) in 4.3% cases, TOF (tetralogy of Fallot) in 8.7% cases and HLHS (hypoplastic left heart syndrome) in 4.3% cases. The ultrasound findings in utero were VSD (30.4%), ASD (39.1%), TGA (4.3%), coarctation of the aortic artery (4.3%), TOF (4.3%) and HLHS (4.3%). In our study there was a strong correlation between the antenatal ultrasound findings and the neonatal diagnosis.


2018 ◽  
Vol 42 (1) ◽  
Author(s):  
Sarah Chen ◽  
Narutoshi Hibino ◽  
Juan Garcia

Advances in diagnostic imaging and 3D printing technologyhave enabled the creation of patient-specic models. Thisresearch established a wor kow for creating 3D printedcongenital hear t defec t (CHD) models, focusing specically oncreating aor tic arch models optimized for surgical planning andsimulation for hypoplastic left hear t syndrome (HLHS) stage Ipalliation. Novel methods for creating C T as well as 3Dultrasound and 3D fetal ultrasound derived prints were explored.


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