Clinical researchAssociated noncardiac congenital anomalies among cases with congenital heart defects
Introduction
Studies of other defects associated with specific congenital anomalies may be helpful to understand embryonic development, identify the causes of congenital anomalies, determine recurrence risks, and guide expectations for the efficacy of prevention strategies [Stevenson et al., 2004]. Congenital heart defects are one of the most common congenital anomaly, representing approximately 45% of all prenatally diagnosed anomalies [Stoll et al., 2001] with a reported rate per 10,000 live births or total births varying from 43 to 124 [Lowry et al., 2013]. CHD occur in as many as 1 in 100 live births and in 1 in 500 fetal ultrasonographic examination [Meberg et al., 2007, Tegnander et al., 2006]. Many cases with CHD will have a coexisting defect involving noncardiac structures. Individual cases of CHD may differ widely in their cause. Specific genetic factors, such as chromosomal abnormalities and inherited mutations in developmental genes, or environmental influences on fetal development i.e. medications [Stoll et al., 1989] may form the underlying cause.
Although it has long been known that CHD are frequently associated with other congenital anomalies, their reported frequency and the type of associated anomalies observed vary considerably among different studies. Using data from our surveillance system of congenital anomalies over a 26-year period, we evaluated the nature and frequency of anomalies associated with CHD to identify recognizable conditions and specific patterns of associated anomalies, which could give hints about the pathogenesis of CHD.
Section snippets
Material and methods
Cases with anomalies for this study were derived from 346,674 consecutive pregnancies of known outcome, including live births and stillbirths, and 157 terminations of pregnancy for fetal abnormality regardless of gestational age, registered by our registry of congenital anomalies described previously [Stoll and Roth, 1985]. Minor anomalies were excluded according to EUROCAT [2009] guidelines for registration of congenital anomalies (http://www.eurocat-network.eu). Cases born in 11 maternity
Results
During the 26-year study period, 4005 infants with CHD were registered. Therefore, the total prevalence is 115.5 per 10,000 (Table 1). No trends in the frequency of CHD were noted during the time frame of the study. The early incidence of CHD over the period 1979 through 2004 was 115.5. Within the period the incidence varied from 97.9 in 1985 to 118.9 in 2001. The distribution and the prevalence of CHD in all malformed cases with CHD, in cases with isolated CHD and in cases with associated
Discussion
During the 26-year study period, the total prevalence of CHD was 115.5/10,000. The most frequent CHD were, (in parentheses the total prevalence per 10,000 and the percentage are given), VSD (44.2; 38), ASD (15.3; 13), PS and atresia (8.0; 7), CoA (5.7; 5), TGA (5.2; 4.5), AVSD (3.8; 3), AS and atresia (3.7; 3), and HLH (3.5; 3). Many studies to assess the prevalence of CHD and the proportion of CHD cases that are isolated compared to those that have extra cardiac associated anomalies have
Conflicts of interest
The authors declare there are no conflicts of interest.
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