RESUMEN
BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
Asunto(s)
Ano Imperforado , Edad Paterna , Polidactilia , Humanos , Masculino , Ano Imperforado/epidemiología , Factores de Riesgo , América del Sur/epidemiología , Polidactilia/epidemiologíaRESUMEN
OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. OBJECTIVES: This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. METHODS: We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. RESULTS: The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. DISCUSSION: The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.
Asunto(s)
Ano Imperforado/epidemiología , Hernia Umbilical/epidemiología , Escoliosis/epidemiología , Anomalías Urogenitales/epidemiología , Adulto , Ano Imperforado/complicaciones , Ano Imperforado/mortalidad , Estudios de Casos y Controles , Femenino , Hernia Umbilical/complicaciones , Hernia Umbilical/mortalidad , Humanos , Recién Nacido , Masculino , México/epidemiología , Embarazo , Prevalencia , Escoliosis/complicaciones , Escoliosis/mortalidad , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/mortalidadRESUMEN
BACKGROUND: Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). OBJECTIVES: To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. STUDY DESIGN: Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database. The sample consisted of 27,247 live- and stillborn newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. RESULTS: A total of 33 significant minor-major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected. CONCLUSIONS: No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.
Asunto(s)
Anomalías Múltiples/epidemiología , Microtia Congénita/epidemiología , Oído Externo/anomalías , Arterias Umbilicales/anomalías , Anomalías Múltiples/diagnóstico , Ano Imperforado/epidemiología , Microtia Congénita/genética , Bases de Datos Factuales , Trastornos del Desarrollo Sexual/epidemiología , Femenino , Macrosomía Fetal/epidemiología , Hernia Umbilical/epidemiología , Humanos , Recién Nacido , América Latina/epidemiología , Nacimiento Vivo , Masculino , Oportunidad Relativa , Valor Predictivo de las Pruebas , MortinatoRESUMEN
OBJECTIVES: To establish the frequency of imperforate anus (IA) in the population with Down syndrome (DS) and study the associated risk factors. METHODS: An observational clinical study case control type was performed. The patients were evaluated at the Unit of Medical Genetics, University of the Andes, from February 2006 to February 2011. The patients with DS and IA were compared with 20 DS without IA. Antecedents of parents were obtained. RESULTS: The frequency de IA in the population with DS was 4.79%. The presence of fever in the first trimester of gestation and the rural origin were associated as risk factors of AI in patients with DS [OR: 25.33 (IC 95% 2.07- 310.76; P = 0.009) and OR: 7.50 (IC 95% 1.09 - 51.52; P = 0.043), respectively]. The maternal age superior to 35 years presented a marginal significance (P = 0.048). CONCLUSIONS: These papers emphasize the high frequency of IA in patients with DS and recommend to investigate the prenatal and environmental risk factors that can increase the presence of this anorectal anomaly in the population with DS, in order to consider them in the programs of prevention of congenital pathologies.
Asunto(s)
Ano Imperforado/epidemiología , Síndrome de Down/complicaciones , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Factores de Riesgo , Venezuela/epidemiologíaRESUMEN
OBJECTIVES: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are different conditions. DESIGN AND SETTINGS: Included were 1416 cleft cases (CL = 131, CLP = 565, CP = 720), among 8304 live- and stillborn infants with multiple congenital anomalies, from 6,559,028 births reported to the International Clearinghouse for Birth Defects Surveillance and Research by 15 registries between 1994 and 2004. Rates of associated anomalies were established, and multinomial logistic regressions applied to identify significant associations. RESULTS: Positive associations with clefts were observed for only a few defects, among which anencephaly, encephaloceles, club feet, and ear anomalies were the most outstanding. Anomalies negatively associated with clefts included congenital heart defects, VATER complex (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), and spina bifida. CONCLUSION: The strong association between all types of clefts and anencephaly seems to be attributable to cases with disruptions; the association between CP and club feet seems to be attributable to conditions with fetal akinesia. Some negative associations may depend on methodologic factors, while others, such as clefts with VATER components or clefts with spina bifida, may depend on biological factors. The different patterns of defects associated with CL and CLP, indicating different underlying mechanisms, suggest that CL and CLP reflect more than just variable degrees of severity, and that distinct pathways might be involved.
Asunto(s)
Anomalías Múltiples/epidemiología , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Anencefalia/epidemiología , Ano Imperforado/epidemiología , Pie Equinovaro/epidemiología , Anomalías Congénitas/epidemiología , Oído/anomalías , Encefalocele/epidemiología , Salud Global , Cardiopatías Congénitas/epidemiología , Humanos , Recién Nacido , Riñón/anomalías , Vigilancia de la Población , Sistema de Registros/estadística & datos numéricos , Disrafia Espinal/epidemiología , Columna Vertebral/anomalías , Mortinato/epidemiología , Fístula Traqueoesofágica/epidemiologíaRESUMEN
BACKGROUND: Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia. CASE REPORTS: We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 days old) and patient 2 (2 months old) had unremarkable gestational and perinatal histories. Both had normal female external genitalia and a 46,XX karyotype. Patient 1 had a polypoid, protruding 3.0 x 2.0 x 1.5-cm phallic-like mass arising at the inferior border of the left labium majora, and patient 2 had a similar mass of 1.5 x 1.5 x 1.0 cm at the same site and an imperforate anus. In both cases the mass was removed and found to be a lipoma. DISCUSSION: To our knowledge, perineal lipoma has been reported only in eleven girls, nine of them with associated anorectal malformation. Migration and fusion of the labioscrotal folds and formation of the urorectal septum are simultaneous developmental events occurring in the same region, which may explain the association of perineal lipoma and anorectal malformations.
Asunto(s)
Lipoma/congénito , Perineo , Ano Imperforado/epidemiología , Femenino , Genitales Femeninos/embriología , Humanos , Recién Nacido , CariotipificaciónRESUMEN
BACKGROUND: Anorectal atresia is a relatively frequent malformation in the newborn. According to the Latin American Collaborative Study for Congenital Malformations (ECLAMC), its frequency is 4.1 per 10,000 born alive. AIM: To determine the frequency of anorectal malformations at birth, and compare the figures with those of other maternity hospitals in Chile participating in ECLAMC, with the figures of the whole ECLAMC and with figures from other worldwide monitoring systems. PATIENTS AND METHODS: All births occurred in the University of Chile Clinical Hospital between January 1979 and August 1999, were reviewed. RESULTS: During the study period, 70,242 children were born, 4,486 had a malformation and 54 had an anorectal malformation (7.7 per 10,000 born alive). Fifty nine percent had other associated malformations (of the urinary tract in 42.5%, skeletal in 26% and cardiovascular in 18.5%). Five stillborn babies had other severe malformations. Twenty one children had a fistula. Forty three % were male, 39% female and 18% had ambiguous sex. When compared with normal controls, malformed newborns had a lower birth weight, lower gestational age and a higher mean maternal age, a higher frequency of metrorrhagia during the first trimester of pregnancy, a higher number of siblings with malformations and a higher degree of consanguinity among parents. CONCLUSIONS: The participation of recessive genes in the etiology of anorectal malformations is suggested.
Asunto(s)
Anomalías Múltiples/epidemiología , Ano Imperforado/epidemiología , Recto/anomalías , Estudios de Casos y Controles , Chile/epidemiología , Femenino , Humanos , Masculino , Prevalencia , Factores de RiesgoRESUMEN
Background: Anorectal atresia is a relatively frequent malformation in the newborn. According to the Latin American Collaborative Study for Congenital Malformations (ECLAMC), its frequency is 4.1 per 10,000 born alive. Aim: To determine the frequency of anorectal malformations at birth, and compare the figures with those of other maternity hospitals in Chile participating in ECLAMC, with the figures of the whole ECLAMC and with figures from other worldwide monitoring systems. Patients and methods: All births occurred in the University of Chile Clinical Hospital between January 1979 and August 1999, were reviewed. Results: During the study period, 70,242 children were born, 4,486 had a malformation and 54 had an anorectal malformation (7.7 per 10,000 born alive). Fifty nine percent had other associated malformations (of the urinary tract in 42.5 percent, skeletal in 26 percent and cardiovascular in 18.5 percent). Five stillborn babies had other severe malformations. Twenty one children had a fistula. Forty three percent were male, 39 percent female and 18 percent had ambiguous sex. When compared with normal controls, malformed newborns had a lower birth weight, lower gestational age and a higher mean maternal age, a higher frequency of metrorrhagia during the first trimester of pregnancy, a higher number of siblings with malformations and a higher degree of consanguinity among parents. Conclusions: The participation of recessive genes in the etiology of anorectal malformations is suggested
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Canal Anal/anomalías , Recto/anomalías , Anomalías del Sistema Digestivo/epidemiología , Ano Imperforado/epidemiología , Peso al Nacer , Prevalencia , Factores de Riesgo , Edad Gestacional , Edad Materna , Anomalías del Sistema Digestivo/complicacionesRESUMEN
This work analyzed the incidence of risk factors in 138 cases presenting two or more of five components defining VATERL, with no other recognized unrelated anomalies: vertebral anomalies, anal atresia, esophageal atresia with or without tracheoesophageal fistula, renal anomalies, and preaxial defects of the upper limbs, including polydactyly of the thumb. The 138 infants were ascertained among 1,811,461 births examined in the 1967-1994 period by the Latin-American Collaborative Study of Congenital Malformations: ECLAMC. One healthy and one malformed control newborn infant were matched to each VATERL case. The birth prevalence rates (per 100,000 births) for VATERL were significantly lower in Venezuela (3.1) than in the other eight countries (8.8) (P < 0.001). Venezuela also had lower rates for all five VATERL defects, even after excluding the 138 VATERL cases. VATERL cases were preferentially males (male proportion 0.6261) (P < 0.02), and, when compared with healthy controls, they had a higher perinatal mortality rate (63.7%) (P < 0.005), a higher frequency of fetal losses in previous pregnancies (12.6%) (P < 0.05), and lower mean birthweights (2,361.79 +/- 809.63 g) (P < 0.005). VATERL cases showed a higher rate than matched malformed controls for prenatal exposures to drugs and physical agents (P < 0.02 and P < 0.05, respectively), although no specific pharmacological or physical group was involved. The lower birth prevalence rates found in Venezuela, for VATERL as well as for each of the five congenital anomalies involved in this association, seem to be biologically meaningful. Since we could not identify a potential risk factor, nor a common cause of underascertainment unique to the Venezuelan subsample and common to all six hospitals, no hypothesis can be advanced here for this phenomenon. Nevertheless, this unequal geographic distribution strongly suggests a common etiopathogenicity for the five congenital anomalies involved in the VATERL association.
Asunto(s)
Anomalías Múltiples/epidemiología , Ano Imperforado/epidemiología , Atresia Esofágica/epidemiología , Riñón/anomalías , Deformidades Congénitas de las Extremidades/epidemiología , Columna Vertebral/anomalías , Estudios de Casos y Controles , Femenino , Humanos , Incidencia , Recién Nacido , Masculino , Prevalencia , Factores de Riesgo , América del Sur/epidemiologíaRESUMEN
This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants were ascertained by ECLAMC from almost 3,000,000 births examined from 1967 through 1990. Observed association rates among VACTERL components as well as between VACTERL and other defects were compared against randomly expected values obtained from 10,084 multiply malformed infants (casuistic method) from the same birth sample. Conclusions were: 1) Cardiac defects are not a part of VACTERL. 2) Single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies that are secondary to VACTERL components (intestinal and respiratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an "extension" of VACTERL, and cardiac defects should be included in this category. 3) Neural tube defects are negatively associated with VACTERL which could not be explained by selection bias or any other operational artifact. High embryonic lethality or mutually exclusive pathogenetic mechanisms could be suitable explanations. 4) Results were not clear enough to determine whether VACTERL should be defined by at least two or three component defects.