Prenatal screening of congenital heart defects in population at low risk of congenital defects. A reality today

2015 ◽  
Vol 82 (1) ◽  
pp. 27-34 ◽  
Author(s):  
J.A. Sainz ◽  
M.J. Zurita ◽  
I. Guillen ◽  
C. Borrero ◽  
J. García-Mejido ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Heart Defects ◽  
Low Risk ◽  
Congenital Defects

scholarly journals Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”

2021 ◽  
Vol 37 (3) ◽  
Author(s):  
Muhammad Sohail Arshad ◽  
Muhammad Aslam ◽  
Shahnab Ahmad ◽  
Muhammad Kashif
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Vascular Malformations ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Tertiary Care ◽  
Primary Diagnosis ◽  
Congenital Defects

Objectives: To assess the frequency and pattern of associated congenital heart disease (CHD) among patients with “non-cardiac congenital defects”. Methods: An observational study was done at Paediatric Cardiology Department, The Children’s Hospital and The Institute of Child Health, Multan, Pakistan, from December 2018 to November 2019. Children from birth to 15 years having non-cardiac congenital defects, referred for cardiac evaluation from surgical unit during the study period were enrolled. Echocardiography was done to confirm diagnosis of CHD by consultant pediatric cardiologist. Results: Out of a total of 323 cases, 176 (54.5%) were male. Out of 323 patients, 160 (49.5%) belonged to age one month to one year. Vascular malformations were the most frequent primary diagnosis among our cases, seen in 69 (21.4%) children followed by cleft lip and palate 55 (17.2%), cleft palate only 52 (16.1%), Cleft lip only 40 (12.4%) and ARM high variety 33 (10.2%). CHD was found among 42 (13.0%) children while patent ductus arteriosus (PDA) and VSD were the commonest finding seen in 14 (33.3%) and 6 (14.3%) children respectively. Conclusion: Frequency of associated CHD among patients with non-cardiac congenital defects was high (13.0%). Children with cleft lip and/or palate should be given more attention because of the high incidence of CHD in this group. Echocardiography must be advised for the timely identification of any possible type of CHD. doi: https://doi.org/10.12669/pjms.37.3.3604 How to cite this:Arshad MS, Aslam M, Ahmad S, Kashif M. Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”. Pak J Med Sci. 2021;37(3):---------. doi: https://doi.org/10.12669/pjms.37.3.3604 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract P515: Dynamics Of Cardiomyocyte Differentiation In Isogenic Induced Pluripotent Stem Cells Derived From Trisomy21 Patients Hints Molecular Pathology Of Congenital Heart Defects In Down Syndrome

2021 ◽  
Vol 129 (Suppl_1) ◽  
Author(s):  
Malay Chaklader ◽  
Beverly A Rothermel
Keyword(s):  
Stem Cells ◽  
Down Syndrome ◽  
Induced Pluripotent Stem Cells ◽  
Congenital Heart Defects ◽  
Pluripotent Stem Cells ◽  
Congenital Heart ◽  
Heart Defects ◽  
Congenital Defects ◽  
Cardiac Progenitors ◽  
Induced Pluripotent

Down syndrome (DS) is the most frequently occurring human chromosomal disorder and is responsible for a range of both congenital defects and progressive, degenerative conditions. For instance, an estimated 50% DS neonates are born with congenital heart defects (CHD) and more than 50% of DS adults develop early onset Alzheimer’s. Using induced pluripotent stem cells (iPSCs) derived from DS patients and isogenic controls we previously demonstrated the presence of a hyper-metabolic, hyper-fused mitochondrial network in trisomic iPSCs (3S-iPSCs) compared to disomic (2S-iPSCs) controls. Furthermore, mitochondrial function was normalized by siRNA depletion of RCAN1, an inhibitor of the protein phosphatase calcineurin (CN). Both CN signaling and mitochondrial metabolism have been implicated in a variety of steps during the progression from embryonic stem cells to cardiac progenitors, including self-renewal, exit from pluripotency, and commitment to cardiac verses hematopoietic lineages. Based on this, we hypothesized that the dynamics of many of these processes will be altered over the course of differentiation of 3S-iPSCs to cardiomyocytes when compared to 2S-iPSCs. Here, we investigate the temporal expression of pluripotency associated genes and lineage associated genes as well as cardiac mesoderm and mature cardiomyocyte specific genes. We also define and compare changes in CN activity, expression of specific CN isoforms, mitochondrial expansion, ROS generation, and activation of stress responses. Our study identifies early developmental and metabolic sequelae capable of contributing to CHD in DS that may result from a disruption in the normal balance in crosstalk between CN and RCAN1.

Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysis

2008 ◽  
Vol 28 (12) ◽  
pp. 1094-1104 ◽  
Author(s):  
Nicholas J. Wald ◽  
Joan K. Morris ◽  
Kate Walker ◽  
John M. Simpson
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Heart Defects ◽  
Meta Analysis ◽  
Nuchal Translucency

Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation

2011 ◽  
Vol 31 (13) ◽  
pp. 1264-1269 ◽  
Author(s):  
Jean-Marie Jouannic ◽  
Anne-Claire Thieulin ◽  
Damien Bonnet ◽  
Lucile Houyel ◽  
Nathalie Lelong ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Heart Defects ◽  
Nuchal Translucency ◽  
Population Based

scholarly journals Congenital heart diseases: A review of echocardiogram records

KYAMC Journal ◽  
2018 ◽  
Vol 9 (1) ◽  
pp. 35-38
Author(s):  
Md Saiful Islam ◽  
Md Moniruzzaman
Keyword(s):  
Blood Flow ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Congenital Defects ◽  
Intrauterine Development ◽  
Heart Defect ◽  
Great Vessels ◽  
Normal Blood Flow

Congenital heart defect (CHD) means an anatomic malformation of the heart or great vessels which occurs during intrauterine development, irrespective of the age at presentation. They can disrupt the normal blood flow through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Broadly congenital heart defects can be acyanotic and cyanotic. We have reviewed retrospectively from echocardiogram record nearly two years of period & collected total 404 patients with congenital heart defects. Among them 329 (81.43%) was acyanotic and 75 (18.57%) was cyanotic congenital defects with variety of diagnosis. Ventricular septal defect was the most common acyanotic heart defect and Tetralogy of Fallot was the most common cyanotic heart defect. There was no significant gender deference.KYAMC Journal Vol. 9, No.-1, April 2018, Page 35-38

Second trimester cardiac diagnosis: screening standards and outcomes

2014 ◽  
Vol 24 (S2) ◽  
pp. 19-25 ◽  
Author(s):  
Sally-Ann B. Clur ◽  
Caterina M. Bilardo
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Low Risk ◽  
Second Trimester ◽  
Detection Rates ◽  
Targeted Interventions ◽  
Chamber View ◽  
Second Trimester Screening ◽  
Trimester Screening

AbstractSecond trimester screening for congenital heart defects occurs during the routine 18–20 weeks’ anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however, have shown that detection rates obtained by experts are not reproducible in the low-risk peripheral practices where most of the foetal screening takes place. As the majority of foetuses with congenital heart defects are born to mothers with no identifiable risk factors, it is important that widespread screening of the low-risk population occurs. To facilitate this, standard protocols have been introduced in several countries, but they are not universal and have differing sensitivities depending on the screening views advocated and the area studied. Initially, only performing the four-chamber view (basic scan) was advocated. By adding the outflow tract views (extended scan), three-vessel, and laterality views, the sensitivity of the examination can be significantly increased. Unfortunately, the sensitivity of these extended protocols still does not meet that obtainable in experienced hands, reflecting the additional skill required to obtain these extended views. Thus, close links are required between the tertiary centres and the screening centres to teach and maintain the skills required to obtain and interpret the required views, and to support the sonographer’s commitment. Furthermore, an audit system is required to trace false-positive and -negative cases so that targeted interventions can be planned. This is important, as a missed case of prenatal congenital heart defect is potentially a missed opportunity to reduce postnatal morbidity and mortality.

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