Conotruncal Anomalies

2021 ◽  
pp. 453-480
Author(s):  
Laura M. Mercer-Rosa ◽  
Meryl S. Cohen
Keyword(s):  
Conotruncal Anomalies

The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study

2021 ◽  
pp. 1-8
Author(s):  
Fionnuala Mone ◽  
Bethany K. Stott ◽  
Susan Hamilton ◽  
Anna N. Seale ◽  
Elizabeth Quinlan-Jones ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Genetic Diagnosis ◽  
Uncertain Significance ◽  
Conotruncal Anomalies

<b><i>Introduction:</i></b> The objective was to evaluate: (i) the proportion of prenatally diagnosed congenital heart disease (CHD) associated with an abnormal quantitative fluorescence-PCR (QF-PCR), chromosome microarray (CMA), and exome sequencing (ES) result; and (ii) the diagnostic yield of these technologies based on CHD category and presence of extra-cardiac anomalies (ECAs). <b><i>Methods:</i></b> This prospective cohort study was set across 12 UK foetal medicine centres. All cases underwent QF-PCR, CMA, and ES, and the diagnostic yield in <i>n</i> = 147 cases of prenatally diagnosed CHD was assessed. <b><i>Results:</i></b> In 34.7% (<i>n</i> = 51/147), a genetic diagnosis was obtained. Using a stepwise testing strategy, the diagnostic yield for QF-PCR, CMA, and ES was 15.6% (<i>n</i> = 23/147), 13.7% (<i>n</i> = 17/124), and 10.2% (<i>n</i> = 11/107), respectively. Abnormal QF-PCR/shunt (septal) defects 31.4% (<i>n</i> = 11/35), <i>p</i> = 0.046, and abnormal CMA/conotruncal anomalies 22.7% (<i>n</i> = 10/44), <i>p</i> = 0.04, had significant associations. Monogenic variants were commonest in complex CHD 36.4% (<i>n</i> = 4/11). Multisystem CHD had a greater diagnostic yield overall compared to isolated OR 2.41 (95% CI, 1.1–5.1), particularly in association with brain and gastrointestinal tract anomalies. The proportion of variants of uncertain significance was 4.7% (<i>n</i> = 5/107) with ES, with none in the CMA group. <b><i>Conclusion:</i></b> In the era of prenatal ES, there remains an important role for QF-PCR and CMA. Identification of monogenic pathologic variants further allows delineation of prognosis in CHD.

Outcomes Data of Surgery for Conotruncal Anomalies from the Congenital EACTS and STS Databases

2016 ◽  
pp. 101-109
Author(s):  
Jeffrey P. Jacobs ◽  
Bohdan Maruszewski ◽  
Francois Lacour-Gayet
Keyword(s):  
Conotruncal Anomalies

Fetal Conotruncal Anomalies

2020 ◽  
pp. 254-289
Author(s):  
Maria Virgina Lima Machado
Keyword(s):  
Conotruncal Anomalies

scholarly journals Conotruncal anomalies in prenatal life

1996 ◽  
Vol 8 (4) ◽  
pp. 241-246 ◽  
Author(s):  
D. Paladini ◽  
M. Rustico ◽  
T. Todros ◽  
S. Palmieri ◽  
P. Gaglioti ◽  
...  
Keyword(s):  
Conotruncal Anomalies

320-multidetector cardiac computed tomography in the evaluation of conotruncal anomalies

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
R Elnagar ◽  
U Ghieda ◽  
A Ibrahim ◽  
M Dawoud
Keyword(s):  
Computed Tomography ◽  
Effective Dose ◽  
Predictive Value ◽  
Cardiac Computed Tomography ◽  
Preoperative Evaluation ◽  
Mdct Angiography ◽  
Complex Anatomy ◽  
Conotruncal Anomalies ◽  
The Mean ◽  
Sensitivity Specificity

Abstract Background Multi-detector computed tomography (MDCT) has become an effective tool in the assessment of congenital heart disease in infants and children. Purpose To evaluate the role of 320-row MDCT in the assessment of conotruncal anomalies and compare it with echocardiography (echo) considering the operative and/or catheter findings as the gold standard. Methods The studied group included 50 patients having conotruncal anomalies. All patients were evaluated with 320-row MDCT angiography. Sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of MDCT and echo were calculated. The patient effective dose was reported. Results The overall sensitivity, specificity, accuracy, PPV and NPV for MDCT angiography in assessment of various abnormalities in patients with conotruncal anomalies were 98.97%, 100%, 99.75%, 100% and 99.67% for MDCT angiography. Sensitivity, specificity, PPV and NPV of MDCT angiography were 97.87%, 100%, 100% and 99.04% and 99.49%, 100%, 100% &99.86% for the detection of intracardiac defects and extracardiac vascular anomalies respectively. The mean absorbed radiation dose was 63.63 mGy-Cm per scan and the mean effective dose was 1.56±0.47 mSv. Conclusion 320-MDCT angiography offers an excellent diagnostic procedure in the preoperative evaluation of the complex anatomy of the conotruncal anomalies. Funding Acknowledgement Type of funding source: None

Conotruncal anomalies in the trisomy 16 mouse: An immunohistochemical analysis with emphasis on the involvement of the neural crest

2000 ◽  
Vol 260 (3) ◽  
pp. 279-293 ◽  
Author(s):  
B.R. Waller ◽  
T. McQuinn ◽  
A.L. Phelps ◽  
R.R. Markwald ◽  
C.W. Lo ◽  
...  
Keyword(s):  
Neural Crest ◽  
Immunohistochemical Analysis ◽  
Trisomy 16 ◽  
Conotruncal Anomalies

scholarly journals Intramural Ventricular Septal Defect Is a Distinct Clinical Entity Associated With Postoperative Morbidity in Children After Repair of Conotruncal Anomalies

Circulation ◽  
2015 ◽  
Vol 132 (15) ◽  
pp. 1387-1394 ◽  
Author(s):  
Jyoti K. Patel ◽  
Andrew C. Glatz ◽  
Reena M. Ghosh ◽  
Shannon M. Jones ◽  
Shobha Natarajan ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Postoperative Morbidity ◽  
Septal Defect ◽  
Clinical Entity ◽  
Distinct Clinical Entity ◽  
Conotruncal Anomalies

scholarly journals OP17.10: Prognostic value of prenatal diagnosis of conotruncal anomalies

2009 ◽  
Vol 34 (S1) ◽  
pp. 117-117
Author(s):  
D. D. Di Martino ◽  
S. M. Boito ◽  
R. Lauletta ◽  
L. Villa ◽  
I. Sandaite ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Prognostic Value ◽  
Conotruncal Anomalies
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