title: Associated noncardiac congenital anomalies among cases with congenital heart defects.
abstract: Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France. Electronic address: cstoll@unistra.fr.
authors.forename: Claude
authors.initials: C
authors.lastname: Stoll
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dott
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Alembik
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Marie-Paule
authors.initials: MP
authors.lastname: Roth
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D005260:Female; D005602:France / Q000453:epidemiology; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011159:Population Surveillance; D011247:Pregnancy; D015995:Prevalence
keywords: Ascertainment; Cardiac anomalies; Congenital heart defects; Congenital heart disease; Etiology; Noncardiac anomalies; Surveillance; Syndromes