[The epidemiology of congenital heart disease in Asturias (Spain) during the period 1990-2004]. / Epidemiología de las cardiopatías congénitas en Asturias durante el período 1990-2004.

INTRODUCTION: Congenital heart diseases (CHDs) are the most common type of birth defect. OBJECTIVE: The purpose of this investigation was to assess the prevalence and trends of CHDs, and to describe the associated malformations and syndromes or sequences in a geographically defined population. MATERIAL AND METHODS: Data were collected from the Asturias Registry of Congenital Defects. The period studied was from 1990 to 2004, and the study population was the 103,452 births of mothers living in the region. Total prevalence and birth prevalence were calculated. RESULTS: A total of 3035 cases with congenital defects were recorded, of these 778 had CHDs. The total prevalence was 75.2 per 10,000 births, with an upward trend during this period. The most common CHDs were: ventricular septal defects (28.8 per 10,000 births), atrial septal defects (10.3 per 10,000 births) and patent ductus arteriosus (6.0 per 10,000 births). A total of 73.6% of CHDs occurred as isolated defects, 12.5% with other congenital defects and 14% were syndromes or sequences. Prenatal diagnosis was effective in only 7.3% (3.8% in isolated cases). CONCLUSIONS: The prevalence of CHDs in Asturias over this period falls within the range reported for other European registries. The apparent increase in prevalence of CHD results mainly from improved diagnosis of minor defects, but there has been no change over time in birth prevalence of more serious defects.

[The quality of the registry of perinatal deaths. Asturias, 1986-90]. / Calidad del registro de muertes perinatales. Asturias, 1986-90.

The quality of official perinatal mortality statistics in a geographical and administratively well defined region (Asturias, Spain) is studied in a five years period (1986-90). The official figures were compared with those collected, retrospectively, from multiple hospital sources. Under-registration of perinatal death was 35% (45.5% of fetal death and 22.5% of early neonatal death, these occurred in the first 24 hours). Validity of mentioned statistics is discussed.

[Prevalence of Down's syndrome in Asturias, 1987-1993. Members of the Work Group of the RCDA]. / Prevalencia del síndrome de Down en Asturias, 1987-1993. Miembros del grupo de Trabajo del RDCA.

OBJECTIVE: To determine the frequency of Down Syndrome (DS) in Asturias and the prenatal diagnosis impact on the birth prevalence of this chromosomal anomaly. METHODS: The analysed data came from the Registry of Congenital Defects of Asturias (1990-1993) and from a retrospective study conducted by the same working group (1987-1989). The total prevalence rates and the prevalence at birth were calculated. RESULTS: Out of 55,601 births, DS was recorded in 83 cases: 69 livebirths, two fetal deaths and 12 induced abortions following prenatal diagnosis, giving a total prevalence rate of 14.9 per 10,000 and a birth prevalence of 12.8. The proportion of induced abortions was 15 per cent in this period; the proportion of cases in the high risk maternal age group (35 years and over) was around 50% of the total. The proportion of induced abortions was 15 per cent in this period. CONCLUSIONS: The frequency of DS in Asturias is comparable to the other populations. Prenatal diagnosis had little impact on the birth prevalence figures. These results may help us draw up prevention and prenatal diagnosis policies for these defects in Asturias when giving the frequency of this health problem.

[Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990-2004]. / Frecuencia y presentación clínica de los defectos oculares congénitos en Asturias (1990-2004).

INTRODUCTION: Congenital ocular anomalies (COAs) can produce serious disability. OBJECTIVE: The purpose of this investigation was to assess the prevalence of COAs, their trends and to describe the associated malformations and syndromes in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used. The period studied was from 1990 to 2004 and the study population the 103,452 births of mothers living in the region. Total prevalence was calculated. RESULTS: A total of 3035 cases with congenital defects were recorded, of these 70 had COAs. The total prevalence was 6.8 per 10000 births, with a stable trend during this period. The most common COAs were: congenital cataract (2.0 per 10000 births), anophthalmos/microphthalmos (1.4 per 10000 births) and coloboma (1.3 per 10000 births). 40% of COAs occurred as isolated defects, 37% were syndromes and 23% were associated with other congenital defects. CONCLUSIONS: The prevalence of COAs in Asturias over this period had a stable trend and the congenital cataract was the commonest COAs. COAs, particularly the anophthalmos/microphthalmos were associated with other congenital anomalies.

[The epidemiology of cleft lip and palate over the period 1990-2004 in Asturias]. / Epidemiología de las fisuras labiales y palatinas durante los años 1990-2004 en Asturias.

INTRODUCTION: Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.

[Limb reduction defects in Asturias (1986-1997): prevalence and clinical presentation]. / Defectos de reducción de extremidades en Asturias, 1986-1997: prevalencia y presentación clínica.

AIM: To determine the prevalence and clinical presentation of limb reduction defects in Asturias (Spain). PATIENTS AND METHODS: Among the 92300 newborns, stillbirths and induced abortions for congenital defects surveyed by the Registry of Congenital Defects in Asturias (population-based registry) during 1986-1997, we studied the children with limb reduction defects. Frequency is expressed as total prevalence per 10000 births. RESULTS: Seventy-three children with limb reduction defects were identified, with a total prevalence of 8 per 10000 births (CI 6.2-9.8): upper limbs were affected in 65.7%, lower limbs in 23.3% and both upper and lower limbs were affected in 11%. Transverse terminal defects were present in 49.3%, and were intercalary in 16.4%, preaxial longitudinal in 8.2%, postaxial longitudinal in 9.6%, split hand/foot in 9.6% and multiple in 6.8%. Limb deficiencies were found in 52%; of these, 48% were associated with other congenital defects. Four had chromosomal anomalies and 20 were syndromes. 31% had low birth weight for their gestational age. Alcohol exposure during pregnancy was recorded in three mothers. CONCLUSIONS: A detailed study of limb reduction defects could lead to a better understanding of clinical presentation and to an etio-pathogenic diagnosis to control risk factors.