Associations of maternal circulating 25-hydroxyvitamin D3 concentration with pregnancy and birth outcomes.

OBJECTIVE: To investigate the association of maternal circulating 25-hydroxyvitamin D3 [25(OH)D3] concentration with pregnancy and birth outcomes. DESIGN: Prospective cohort study. SETTING: Four geographical areas of Spain, 2003-2008. POPULATION: Of 2382 mother-child pairs participating in the INfancia y Medio Ambiente (INMA) Project. METHODS: Maternal circulating 25(OH)D3 concentration was measured in pregnancy (mean [SD] 13.5 [2.2] weeks of gestation). We tested associations of maternal 25(OH)D3 concentration with pregnancy and birth outcomes. MAIN OUTCOME MEASURES: Gestational diabetes mellitus (GDM), preterm delivery, caesarean section, fetal growth restriction (FGR) and small-for-gestational age (SGA), anthropometric birth outcomes including weight, length and head circumference (HC). RESULTS: Overall, 31.8% and 19.7% of women had vitamin D insufficiency [25(OH)D3 20-29.99 ng/ml] and deficiency [25(OH)D3 < 20 ng/ml], respectively. After adjustment, there was no association between maternal 25(OH)D3 concentration and risk of GDM or preterm delivery. Women with sufficient vitamin D [25(OH)D3 ≥ 30 ng/ml] had a decreased risk of caesarean section by obstructed labour compared with women with vitamin D deficiency [relative risk (RR) = 0.60, 95% CI 0.37, 0.97). Offspring of mothers with higher circulating 25(OH)D3 concentration tended to have smaller HC [coefficient (SE) per doubling concentration of 25(OH)D3, -0.10 (0.05), P = 0.038]. No significant associations were found for other birth outcomes. CONCLUSION: This study did not find any evidence of an association between vitamin D status in pregnancy and GDM, preterm delivery, FGR, SGA and anthropometric birth outcomes. Results suggest that sufficient circulating vitamin D concentration [25(OH)D3 ≥ 30 ng/ml] in pregnancy may reduce the risk of caesarean section by obstructed labour.

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

Introducción: Las fisuras labiales y palatinas son los defectos congénitos faciales más frecuentes. Objetivo: Conocer la frecuencia de estos defectos en Asturias y realizar una descripción clinicoepidemiológica de sus anomalías asociadas. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias de los años 1990–2004 sobre una población de 103.452 nacidos y comparación con el European Concerted Action on Congenital Anomalies and Twins y otros registros españoles. Resultados: De los 145 casos registrados, el 26,9% eran fisuras labiales, el 28,3% eran fisuras labiopalatinas y el 44,8% eran fisuras palatinas. La prevalencia total de las fisuras labiales o palatinas fue de 14,4 por 10.000 nacidos. Un 18,6% tenía otros defectos asociados, y fueron más frecuentes las anomalías esqueléticas, las cardiovasculares y las del sistema nervioso central. Un 22,1% de las fisuras labiales y palatinas pertenecía a un síndrome o secuencia reconocida. El diagnóstico prenatal fue del 12,4%, principalmente en los casos polimalformados y síndromes. Conclusiones: La prevalencia total de las fisuras labiales y palatinas en Asturias durante este período fue similar a la de otros registros europeos. Debido a la elevada asociación a otras anomalías, debe realizarse una búsqueda minuciosa de ellas, tanto en la ecografía prenatal como en la exploración del recién nacido (AU)

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 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 (AU)

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

Introducción: Los defectos oculares congénitos (DOC) pueden originar importante discapacidad. Objetivo: El objetivo de este estudio fue conocer la prevalencia total de los DOC en Asturias, su tendencia y realizar una descripción de su forma de presentación. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias (RDCA) de los años 1990–2004. La población estudiada fueron los 103.452 nacidos de madres residentes en Asturias en este periodo. Se calcularon las tasas de prevalencia total. Resultados: De los 3.035 casos con defectos congénitos registrados durante los 15 años estudiados, 70 tenían un DOC. La prevalencia total media fue de 6,8 por 10.000 nacidos, con una tendencia estable. Los más frecuentes fueron: las cataratas congénitas (2,0 por 10.000 nacidos vivos), la anoftalmia/microftalmia (1,4 por 10.000 nacidos vivos) y los colobomas (1,3 por 10.000 nacidos vivos). El 40 % de los DOC se presentaron de forma aislada, 37% pertenecían a un síndrome y 23% se asociaban a otras anomalías congénitas no sindrómicas. Conclusiones: La prevalencia total de los DOC durante este periodo en Asturias fue estable siendo las cataratas congénitas el DOC más frecuente. Más de la mitad de los DOC, en especial la anoftalmia/microftalmia se asociaron a otras malformaciones congénitas (AU)

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 (AU)

[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.

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

Introducción: Las cardiopatías congénitas (CC) son los defectos congénitos (DC) más comunes. Objetivo: Conocer la prevalencia total de las CC en Asturias y su tendencia y realizar una descripción de las anomalías asociadas y los síndromes o las secuencias. Material y métodos: Análisis de los datos del Registro de DC de Asturias de los años 1990–2004. La población estudio fueron los 103.452 nacidos de madres residentes en Asturias en ese período. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: De los 3.035 casos con DC registrados durante los 15 años estudiados, 778 tenían una CC. La prevalencia total media fue de 75,2 por 10.000 nacidos, con una tendencia ascendente. Las más frecuentes fueron la comunicación interventricular (28,8 por cada 10.000 nacidos vivos), los defectos del septo auricular (10,3 por cada 10.000 nacidos vivos) y la persistencia del ductus arterioso (6,0 por cada 10.000 nacidos vivos). El 73,6% de las CC se presentó de forma aislada, el 12,5% asociadas a otras anomalías congénitas y el 14% pertenecía a un síndrome o a una secuencia. El diagnóstico prenatal fue del 7,3% (del 3,8% en los casos aislados). Conclusiones: La prevalencia total de las CC en Asturias durante este período fue similar a la de otros registros europeos. El aparente incremento de la prevalencia se debió a un mayor diagnóstico de los defectos menores, mientras que las CC más graves mantuvieron una frecuencia estable. El diagnóstico prenatal de las CC en Asturias fue inferior al de otros registros europeos (AU)

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 wers 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 10000 births, with an upward trend during this period. The most common CHDs were: ventricular septal defects (28.8 per 10000 births), atrial septal defects (10.3 per 10000 births) and patent ductus arteriosus (6.0 per 10000 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 (AU)

[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.

Evolución del diagnóstico prenatal delas anomalías cromosómicas en Asturias(España). Período 1990-2004 / Prenatal diagnosis trend for chromosomal abnormalities in Asturias (Spain). Period 1990-2004

Fundamento. Evaluar el impacto del diagnóstico prenatal(DP) en las anomalías cromosómicas (AC).Métodos. Durante 15 años (1990-2004) el Registro deDefectos Congénitos de Asturias (RDCA) recogió informaciónsobre AC. El RDCA es un registro de base poblacionalque incluye todos los diagnósticos ya sean abortos, mortinatos,o nacidos vivos hasta los 5 años de edad. Se analizaronlos datos de las AC, particularmente del síndrome deDown, síndrome de Turner, y trisomía 18, y la evolución delDP.Resultados. Se diagnosticaron 356 AC, aumentando elDP con el paso de los años, más en el grupo correspondientea mujeres de 35 años y más (30 % en menores de 35 años entre1990 y 1993, frente a 50 % entre 2002 y 2004; 48 % enmujeres de 35 años y más en el primer período frente a 83%en el segundo). En el síndrome de Down en las mujeres menoresde 35 años entre 2002 y 2004 el DP apenas alcanzó el30 %. En la trisomía 18 y en el síndrome de Turner, el porcentajede DP fue alto, debido principalmente a hallazgosecográficos.Conclusiones. El DP de las AC ha mejorado sus resultadosa lo largo de los 15 años, con una mejoría significativaen el diagnóstico ecográfico, excepto en el síndrome deDown en el grupo de menores de 35 años (AU)

Methods. Over 15 years (1990-2004) the Registro deDefectos Congénitos de Asturias (RDCA) collected informationon CA. The RDCA is a population-based registrythat includes all diagnosed cases whether abortions, stillbirths,or live birth until the age of five. The data obtainedwere analyzed for the CA, particularly for Downsyndrome, Turner syndrome and trisomy 18, and the evolutionof PD.Results. 356 chromosomal abnormalities were diagnosed,the PD increased over the years, especially in womenaged 35 and over (30% under the age of 35 between 1990and 1993, compared with 50% between 2002 and 2004;48% in women aged 35 and over in the first period comparedto 83% in the second). In Down syndrome data in thegroup of women under 35 years in 2002-2004 PD barelyreached 30%. In trisomy 18 and Turner syndrome, the averageof PD was high, mainly due to ultrasound findings.Conclusions. PD on CA has improved its results over15 years, with a significant improvement in the ultrasounddiagnosis, except for Down syndrome in the groupof women under 35 years (AU)

Evolución del diagnóstico prenatal de los defectos congénitos estructurales en Asturias. Período 1990-2004 / Prenatal diagnosis trend for structural birth defects in Asturias (Spain). Period 1990-2004

Fundamento. Evaluar el impacto del diagnóstico prenatal(DP) en los defectos congénitos estructurales (DCE).Métodos. Durante 15 años (1990-2004) el Registro deDefectos Congénitos de Asturias (RDCA) recogió informaciónsobre defectos congénitos (DC). El RDCA es un registrode base poblacional que incluye todos los diagnósticos yasean abortos, mortinatos, o nacidos vivos hasta los cincoaños de edad. Se analizaron datos obtenidos de los defectosde cierre del tubo neural (DTN), hernia diafragmática (HD),onfalocele, gastrosquisis, y cardiopatías congénitas, y la evolucióndel DP de estos defectos.Resultados. Se diagnosticaron un total de 3.035 DC(2,9 % sobre el total de nacimientos), siendo 560 los diagnósticosprenatales (18,5 %). Se registraron 126 casos deDTN con un porcentaje de DP igual o superior al 90 % en losperíodos estudiados, principalmente a expensas del diagnósticoecográfico. Hubo 45 casos de HD, con un incrementosustancial en el DP (68 % en los últimos años). En elcaso del onfalocele y la gastrosquisis, también se produjouna mejoría en la frecuencia del DP, especialmente en elcaso de las gastrosquisis, siendo diagnosticadas el 90%prenatalmente. El 10,6 % de las cardiopatías congénitas sediagnosticaron antes de nacer, y analizando las ocho másseveras y estructuralmente más complejas el DP apenas llegaal 20 % (AU)

Objective. To asses the impact of prenatal diagnosis(PD) on structural birth defects.Methods. Over 15 years (1990-2004) the Registro deDefectos Congénitos de Asturias (RDCA) collected informationon birth defects (BD). The RDCA is a populationbasedregistry that includes all diagnosed cases whetherabortions, stillbirths, or live birth until the age of five.Data obtained were analyzed for the defects of the neuraltube closure (DNT), diaphragmatic hernia (DH), omphalocele,gastroschisis, and congenital heart disease, and theevolution of PD in these defects.Results. 3,035 BD were diagnosed (2.9% of totalbirths), of which 560 were prenatally (18.5%). They wererecorded 126 cases of DNT with an average of PD equalto or exceeds 90% in the periods studied, mainly due toultrasound diagnosis. There were 45 cases of DH, with asubstantial increase in the PD (68% the last years). Omphaloceleand gastroschisis, also show an increase in thefrequency of PD, especially in gastroschisis, being diagnosedthe 90% of them prenatally. 10.6% of congenitalheart diseases were diagnosed prenatally, and the eightvalues harsher and more structurally complex PD barelyreaches 20% (AU)