scholarly journals Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Jingjing Zhang ◽  
Dingyuan Ma ◽  
Yan Wang ◽  
Li Cao ◽  
Yun Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart Defect ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Heart Defect ◽  
Chromosome 22Q11 ◽  
Dependent Probe

scholarly journals Being involved in research as a collaborator with experience of a prenatal diagnosis of congenital heart defect in the fetus: a qualitative study

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Tommy Carlsson ◽  
Ulla Melander Marttala ◽  
Elisabet Mattsson
Keyword(s):  
Prenatal Diagnosis ◽  
Lived Experience ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Qualitative Content Analysis ◽  
Future Research ◽  
Relevant Research ◽  
Research Project ◽  
Heart Defect ◽  
Research Questions

Abstract Background An increasing number of research projects are now collaborating with persons who have lived experience of a specific health-related situation, such as a prenatal diagnosis of congenital heart defect. Such collaboration has the potential to provide valuable insights how to plan future studies, but little is known how these persons experience such involvement. The aim was to explore how persons with lived experience of a prenatal diagnosis perceived collaborating in a research project utilizing patient and public involvement to identify relevant research questions and develop suitable interventions. Methods Persons with experience of a prenatal diagnosis of congenital heart defect in the fetus were interviewed after their participation in a yearlong collaborative research project (n = 9) aiming to explore relevant research questions and develop interventions for expectant parents with a recent prenatal diagnosis. Interviews were analyzed with qualitative content analysis. Results Respondents acknowledged altruistic and personal value related to the collaboration. They valued the opportunity to contribute to future research so that the care of persons experiencing a prenatal diagnosis may be improved. Mixed feelings were described related to sharing and reliving experiences. While it had been emotionally difficult to relive a traumatic event, it also served as an opportunity to process experiences and psychologically adapt. Respondents with terminated pregnancies appreciated the possibility to meet peers, since it was difficult to find peers in everyday life and talk about their experiences with others. Conclusions Researchers who plan to collaborate with persons who have experience of a prenatal diagnosis should be mindful of the potential associated emotional experiences. The appreciation related to meeting peers calls attention to the need for studies that explore peer support.

scholarly journals Multiplex Ligation-Dependent Probe Amplification Analysis ofGATA4Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

2010 ◽  
Vol 28 (5) ◽  
pp. 287-292 ◽  
Author(s):  
Valentina Guida ◽  
Francesca Lepri ◽  
Raymon Vijzelaar ◽  
Andrea De Zorzi ◽  
Paolo Versacci ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Copy Number ◽  
High Performance ◽  
Congenital Heart ◽  
Clinical Symptoms ◽  
Heart Defects ◽  
Gene Mutations ◽  
Copy Number Variations ◽  
Deletion Syndrome ◽  
Dependent Probe

GATA4mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition,GATA4is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role ofGATA4copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence ofGATA4gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated withGATA4gene mutations. The patients were mutation-negative forGATA4,NKX2.5, andFOG2genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution ofGATA4gene CNVs in CHD pathogenesis.

Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array

2014 ◽  
Vol 34 (9) ◽  
pp. 858-863 ◽  
Author(s):  
Can Liao ◽  
Ru Li ◽  
Fang Fu ◽  
Guie Xie ◽  
Yongling Zhang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Resolution ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Snp Array ◽  
Heart Defect ◽  
Genome Wide

scholarly journals ANALYSIS OF GENE COPY NUMBER VARIATIONS IN PATIENTS WITH CARDIAC SEPTAL DEFECTS USING MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION

2019 ◽  
pp. 100-103
Author(s):  
YASHVANTHI BORKAR ◽  
KRISHNANANDA NAYAK ◽  
RANJAN SHETTY K ◽  
RAJASEKHAR MOKA
Keyword(s):  
Transcription Factor ◽  
Copy Number ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Copy Number Variations ◽  
Gene Copy ◽  
Dna Copy Number ◽  
Septal Defects ◽  
Cardiac Septal Defects ◽  
Dependent Probe

Objective: Cardiac septal defects (CSDs), the most common human congenital heart malformations are complex and heterogeneous. Progress in molecular biology has helped to identify many genes responsible for cardiac morphogenesis. However, etiologic factors in familial as well as isolated syndromes are being identified; the root genetic cause still needs to be resolved and its mechanism is yet to be revealed. The objective of this study is to identify DNA copy number variations (CNVs) and their possible association with septal defects. Methods: Multiplex ligation-dependent probe amplification (MLPA) was used to detect DNA copy number in non-syndromic CSDs using the P311-A1 Kit consisting of probes for the key genes, namely, NKX2-5 (NK2 transcription factor related, locus 5), GATA4 (GATA binding protein 4), TBX5 (T-box transcription factor), bone morphogenetic protein 4, and CRELD1 (cysteine rich with EGF-like domains 1). Results: We studied 124 clinically diagnosed CSD subjects, of which 111 (89.5%) had atrial septal defects and 13 (10.5%) had ventricular septal defects. MLPA assay was carried out in all these patients after a thorough clinical and cytogenetic screening. CNVs were identified in 16 (12.9%) cases, of which heterozygous deletions and heterozygous duplications were detected (8 patients each) with apparent phenotypes. Conclusion: MLPA could be a useful assay for the detection of CNVs and to be adopted as the first line of screening in patients with congenital heart diseases.

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