Advanced maternal age and risk of adverse perinatal outcome among women with congenital heart disease: A nationwide register‐based cohort study

2020 ◽  
Vol 34 (6) ◽  
pp. 637-644
Author(s):  
Stine Kloster ◽  
Anne‐Marie Nybo Andersen ◽  
Søren Paaske Johnsen ◽  
Dorte Guldbrand Nielsen ◽  
Annette Kjær Ersbøll ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Perinatal Outcome ◽  
Maternal Age ◽  
Congenital Heart ◽  
Advanced Maternal Age ◽  
Adverse Perinatal Outcome

Second-Trimester Ductus Venosus Measurement and Adverse Perinatal Outcome in Fetuses With Congenital Heart Disease

2006 ◽  
Vol 25 (8) ◽  
pp. 979-982 ◽  
Author(s):  
Katherine Bianco ◽  
Maria Small ◽  
Svena Julien ◽  
Trace Kershaw ◽  
Maaike Michon ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Perinatal Outcome ◽  
Congenital Heart ◽  
Ductus Venosus ◽  
Second Trimester ◽  
Adverse Perinatal Outcome

scholarly journals In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Diamond Ling ◽  
Jonathan G Dayan
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Congenital Heart ◽  
Genetic Disorder ◽  
Advanced Maternal Age ◽  
Dizygotic Twins ◽  
Increased Risk

Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500–750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.

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.

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