Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20‐year period

2021 ◽  
Author(s):  
Zsolt Tidrenczel ◽  
Julia Hajdu ◽  
Aténé Simonyi ◽  
István Szabó ◽  
Nándor Ács ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Congenital Heart

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.

scholarly journals Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

2019 ◽  
Vol 70 (7) ◽  
pp. 2574-2578
Author(s):  
Cristina Crenguta Albu ◽  
Dinu-Florin Albu ◽  
Stefan-Dimitrie Albu ◽  
Anca Patrascu ◽  
Ana-Roxana Musat ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Live Births ◽  
Cardiac Malformations ◽  
Great Vessels

Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious�birth defects [1].�Congenital cardiovascular defects make up one of the largest groups of severe congenital malformations [2].The incidence of congenital heart defects in different studies varies from about 4/1,000 to 50/1,000 live births [3].� Congenital heart disease is frequently described in patients with Down syndrome and is the main cause of death in this population during the first two years of life [4].�Trisomy 21 with cardiovascular malformations have a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population [5].�Prenatal diagnosis of�congenital�heart disease is important for proper perinatal and neonatal management, as congenital cardiac malformations occurs in approximately eight of 1000 live births [6]. We present an extremely rare case of early prenatal diagnosis and management of a fetus with trisomy 21 associated with the transposition of the great vessels, one of the most mysterious congenital cardiac malformations.

Assessment of Needs for Counseling After Prenatal Diagnosis of Congenital Heart Disease – A Multidisciplinary Approach

2018 ◽  
Vol 230 (05) ◽  
pp. 251-256 ◽  
Author(s):  
Alexander Kovacevic ◽  
Andreas Simmelbauer ◽  
Sebastian Starystach ◽  
Michael Elsässer ◽  
Christof Sohn ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Medical Staff ◽  
Congenital Heart ◽  
Multidisciplinary Approach ◽  
Medical Information ◽  
Coping Resources ◽  
Effective Counseling ◽  
Demographical Data

Abstract Background Congenital heart disease is the most common cause of major congenital anomalies. After prenatal diagnosis effective counseling is crucial. However, little research has been undertaken in determining the most effective techniques. Objectives To develop a questionnaire suitable to assess parental needs for counseling. Material and Methods A questionnaire was developed by pediatric cardiologists, maternal-fetal-medicine specialists and sociologists. Likert scaled and open-ended questions are combined with socio-demographical data. The questionnaire was prospectively pilot-tested on 17 parents. We present first analyses of n=41 parents. Results Response rate was 89.5%. The dependent variable “effective counseling” was measured in 5 dimensions (transfer of medical information, trust in medical staff, transparency of treatment process, coping resources and perceived situational control). The questionnaire’s internal consistency is high (Cronbach’s alpha>0.7). First analyses show that 44.7% perceived counseling as successful. Transfer of medical information seems difficult (36.6% success rate). Trust in medical staff was high with 75%. Conclusions This newly developed tool measures counseling success in five dimensions. A multidisciplinary approach is recommended as methodological expertise is essential for constructing adequate tests. Preliminary data indicate that transfer of medical information is not easily achieved. Further analyses are needed to identify factors that determine counseling success.

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