Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease

2014 ◽  
Vol 436 ◽  
pp. 140-142 ◽  
Author(s):  
Yvonne KY Cheng ◽  
Jin Huang ◽  
Kwok Ming Law ◽  
Yiu Man Chan ◽  
Tak Yeung Leung ◽  
...  
2019 ◽  
Vol 29 (11) ◽  
pp. 1328-1334 ◽  
Author(s):  
Ewa-Lena Bratt ◽  
Stina Järvholm ◽  
Britt-Marie Ekman-Joelsson ◽  
Antje Johannsmeyer ◽  
Sven-Åke Carlsson ◽  
...  

AbstractIntroduction:A diagnosis of congenital heart disease (CHD) in offspring triggers psychological distress in parents. Results of previous studies have been inconsistent regarding the psychological impact of a prenatal versus a postnatal diagnosis. The aim of this study was to evaluate the influence of the time of diagnosis on levels of parental distress.Methods:Pregnant women and their partners with a fetus diagnosed with complex CHD, parents of children with postnatally diagnosed CHD, and pregnant women and their partners with uncomplicated pregnancies were invited to participate. Data were collected during pregnancy and 2–6 months after delivery using the Hospital Anxiety and Depression Scale, sense of coherence, life satisfaction, and Dyadic Adjustment Scale.Results:During pregnancy, the prenatal group scored lower sense of coherence compared to controls (p=0.044). Postnatally the prenatal group scored lower on sense of coherence compared to the postnatal group and controls (p=0.001; p=0.001). Postnatally, the prenatal and postnatal groups had higher levels of anxiety compared to controls (p=0.025; p=0.0003). Life satisfaction was lower in the prenatal group compared to that in the postnatal group and in controls (p=0.000; p=0.0004).Conclusion:Parents with a prenatal diagnosis of CHD in offspring report a low sense of coherence already during pregnancy which decreased further at follow-up. The same group reported a lower satisfaction with life compared to parents of a child with postnatal diagnosis of CHD and parents of a healthy child. This motivates further efforts to improve counselling and support during pregnancy and for parents after a prenatal diagnosis.


2010 ◽  
Vol 31 (5) ◽  
pp. 587-597 ◽  
Author(s):  
Allison Levey ◽  
Julie S. Glickstein ◽  
Charles S. Kleinman ◽  
Stephanie M. Levasseur ◽  
Jonathan Chen ◽  
...  

2019 ◽  
Vol 58 (8) ◽  
pp. 931-934
Author(s):  
Afshin A. Khan ◽  
Christopher Schmitt ◽  
Gabriella Pridjian ◽  
Alston E. Dunbar ◽  
Song-Gui Yang

2015 ◽  
Vol 28 (2) ◽  
pp. 158 ◽  
Author(s):  
Marta Correia ◽  
Fabiana Fortunato ◽  
Duarte Martins ◽  
Ana Teixeira ◽  
Graça Nogueira ◽  
...  

<strong>Introduction:</strong> Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease.<br /><strong>Material and Methods::</strong> Retrospective study of complex congenital heart disease patients of our Hospital, born between 2007 and 2012.<br /><strong>Results::</strong> There were 126 patients born with complex congenital heart disease. In 95%, pregnancy was followed since the first trimester, with prenatal diagnosis in 42%. There was a statistically significant relation between birth place and prenatal diagnosis. Transposition of great arteries was the most frequent complex congenital heart disease (45.2%), followed by pulmonary atresia with ventricular septal defect (17.5%) and hypoplastic left ventricle (9.5%). Eighty-two patients (65.1%) had prostaglandin infusion and 38 (30.2%)were ventilated before an intervention. Surgery took place in the neonatal period in 73%. Actuarial survival rate at 30 days, 12 and 24 months was 85%, 80% and 75%, respectively. There was no statistically significant relation between prenatal diagnosis and mortality.<br /><strong>Discussion::</strong> Most patients with complex congenital heart disease did not have prenatal diagnosis. All cases with prenatal diagnosis were born in a tertiary center. Prenatal diagnosis did not influence significantly neonatal mortality, as already described in other studies with heterogeneous complex heart disease.<br /><strong>Conclusion::</strong> prenatal diagnosis of complex congenital heart disease allowed an adequate referral. Most patients with complex congenital heart disease weren’t diagnosed prenatally. This data should be considered when planning prenatal diagnosis of congenital heart disease.


2009 ◽  
Vol 34 (S1) ◽  
pp. 129-129
Author(s):  
A. Levey ◽  
L. L. Simpson ◽  
C. S. Kleinman ◽  
J. Glickstein ◽  
S. M. Levasseur ◽  
...  

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