Collaborative Study Of Congenital Malformations Research Articles

Omphalocele: clinical and epidemiological profile of patients born in a tertiary care center in Rio de Janeiro

BackgroundThe objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types.MethodsUsing Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019.ResultsDuring the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%.ConclusionsOur data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.

Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study

Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome, but most of these abnormalities occur as isolated and sporadic forms. The etiology of human CAKUT is unknown in the majority of cases. This case-control study aimed to investigate the association between maternal characteristics and the occurrence of CAKUT and specific CAKUT phenotypes. In this case-control study, 29,653 newborns were evaluated consecutively in a tertiary neonatal unit using the Latin American Collaborative Study of Congenital Malformations (ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic junction obstruction, vesicoureteral reflux, primary megaureter and others (n=239), lower urinary tract obstruction (LUTO) (n=79), cystic diseases (n=59) and agenesis/hypodysplasia (n=28). Multivariable logistic regression analyses were used to calculate crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations between the maternal risk factors and the presence of CAKUT. The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data records allowed the analysis of 405 cases and 1208 controls. After adjustment by the binary regression logistic, three covariates remained associated as risk factors for the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4-20.4), family history of CAKUT (OR, 6.4, 95%CI, 1.9-21.3), and maternal chronic hypertension (OR, 14.69, 95%CI, 3.2-67.5) (Figure). These risk factors persisted consistently across the various CAKUT phenotypes with minor variations. Consanguinity was the only factor consistently associated with almost all CAKUT phenotypes. Maternal hypertension was associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive mothers (0.2%). Our study suggests that an increased risk of CAKUT is associated with consanguinity, a positive family history of CAKUT, and maternal hypertension. However, the prevalence of these risk factors in our cohort was rare and most cases presented as sporadic forms.

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC)

Abstract Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86–7.00) for cloacal exstrophy, of 4.01 (range: 3.14–5.12) for imperforate anus, of 5.52 (range: 3.92–7.78) for horseshoe kidney, and of 13.7 (range: 6.65–28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and horseshoe kidney. Patients with urological abnormalities and Down syndrome have the highest likelihood.

Prevalência de doenças durante a gravidez em uma grande amostra sul-americana não selecionada

Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an unselected sample of women who gave birth in South American countries. We conducted a descriptive, cross-sectional study including 56,232 mothers of non-malformed infants born between 2002 and 2016, using data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC). Diseases with higher- than-expected PTB/SGA frequencies were identified. Odds ratios of confounding variables for diseases and birth outcomes were calculated with a multivariable logistic regression. Of the 14 most reported diseases, hypertension, genitourinary infection, epilepsy, hypothyroidism, diabetes, and HIV/AIDS showed higher PTB and/or SGA frequencies. Advanced and low maternal age, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with PTB, while advanced maternal age, primigravidity, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with SGA. After adjusting for the associated variables, the identified illnesses maintained their association with PTB and all, except epilepsy, with SGA. The description of an unselected population of mothers allowed identifying the most frequent diseases occurring during gestation and their impact on pregnancy outcomes. Six diseases were associated with PTB and two with SGA newborns. To the best of our knowledge, there are no similar reports about women not intentionally selected by specific diseases during pregnancy in South American populations.

Smoking during pregnancy: changes and associated risk factors in Spain, 1980-2016.

Trends for maternal smoking rates have varied substantially across industrialized countries. The objective was to describe how the prevalence of maternal smoking evolved in Spain during 1980-2016. Data came from the Spanish Collaborative Study of Congenital Malformations. Our sample consisted of 40934 mothers of newborns with no congenital defects from hospitals all across Spain. We estimated change points in trend and the mean annual change in smoking prevalence using 'joinpoint' regression. Relevant potential factors (age, country of birth, education, parity, planned pregnancy and alcohol consumption) were examined using multivariate logistic regression. Maternal smoking prevalence in 1980 and 2016 were 14.3% (95% confidence interval [CI]: 11.9-17.0) and 20.4% (95% CI: 15.9-25.8). We identified four periods with distinct trends: a sharp increase during the 80s, a plateau during the 90s, a decrease starting in 2000 and a slowdown of such decrease from 2009 on. Smoking was significantly higher among young women, Spain-born, with low education, unplanned pregnancy, and alcohol consumption. Currently in Spain maternal smoking remains very high. Tobacco consumption trend showed an increase during the 80s, a plateau during the 90s, and a reduction in the 2000s. Several sociodemographic and behavioural factors were associated to greater likelihood of smoking.

Risk factors for congenital heart disease: A case-control study

Objectiveto investigate the prevalence and risk factors in newborns with congenital heart defects (CHD). Methodsthis case-control study included 234,386 births from January 2006 to June 2013 that were evaluated and registered in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) methodology, establishing the Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP). Results234,368 births were registered and 277 of them were identified to have a CHD. The most common defect among all was ventricular septal defect (13.7%) followed by atrial septal defect (10.1%). As main associations we obtained: having any type of pre-gestational diabetes mellitus had an increased risk for the development of CHD (OR 16.36 CI: 4.54–58.35). Low weight newborns (less than 2,500g) (OR: 4.13 CI: 3.13–5.44) and a gestational age lower than 36 weeks (OR: 4.92 CI: 3–5.44) were also linked to malformations. Conclusionswomen with diabetes mellitus represent a high-risk pregnancy group, more work is needed to educate diabetic women, so CHD can be prevented and the outcomes of their pregnancy can be improved. Appropriate glycemic control before and during pregnancy may reduce CHD.

Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014.

Even small amounts of alcohol consumed during pregnancy can have adverse effects on the embryo and the fetus. We estimated how alcohol intake among pregnant women in Spain changed between 1980 and 2014, and identified factors associated with alcohol use. Data came from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The sample includes ECEMC's control mothers, 40,268 pregnant women from all regions of Spain. We classified alcohol consumption during pregnancy into 3 categories: no consumption; sporadic consumption of small amounts of alcohol; and regular consumption, or sporadic but in large quantities including drunkenness. Independent variables included sociodemographic factors, planned/unplanned pregnancy, maternal chronic diseases, gestational diabetes, and tobacco and illegal drug use during pregnancy. Trend analyses were performed using data from 1980 to 2014. The multinomial logistic regression models designed to identify associated factors differentiated between 2 periods: 1994 to 2004 and 2005 to 2014. Prevalence of alcohol consumption declined from 29.6% (95% CI: 27.1 to 32.2) in 1980 to 5.4% (95% CI: 3.7 to 7.6) in 2014, mostly due to the reduction in regular intake. This decline was especially acute between 1980 and 1994. Sporadic and regular consumption increased among women working outside the home, born outside Spain, those whose pregnancy was unplanned, and those reporting using tobacco or other drugs. Comparing 1994 to 2004 versus 2005 to 2014, a stronger association was observed between regular alcohol consumption and tobacco consumption in the latter period (interaction p=0.003). Alcohol consumption among expectant mothers has declined substantially in the last 35years. However, it is worth highlighting the significant and substantial associations between alcohol use and consumption of tobacco, which have become stronger in the most recent years.

NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype.
 

Fatores Clínico-Epidemiológicos e Ultrassonográficos Associados às Malformações Congênitas do Sistema Nervoso Central

Objetivo: Estudos associam a presença de malformações congênitas do sistema nervoso central (SNC) a determinados fatores. Assim, buscou-se determinar os fatores associados à presença de malformações congênitas do SNC em recém-nascidos. Métodos: estudo caso-controle, incluindo pacientes do Estudo Colaborativo Latino-Americano de Malformações Congênitas (ECLAMC). Foram analisadas variáveis maternas, gestacionais, neonatais, ambientais e ultrassonográficas. A associação entre a anomalia congênita e os fatores estudados foi estimada por “Odds Ratio” (OR). Resultados: As variáveis idade e escolaridade dos pais, número de gestações, consultas e ultrassonografias, idade gestacional, imunizações, doenças e hábitos de vida maternos, exposição a teratógenos e a fatores ambientais, hábitos de vida, uso de ácido fólico, sulfato ferroso e polivitamínicos, bem como peso e sexo do recém-nascido não demonstraram diferença significativa na frequência entre os grupos. Os fatores significativamente associados às malformações foram os antecedentes de malformação congênita do SNC na família (1º e 2º graus) e o registro de oligodrâmnio absoluto ou relativo na ultrassonografia obstétrica (OR= 5,33 e p= 0,03; OR= 8,42 e p= 0,05). Conclusão: Malformação familiar congênita do SNC (1º e 2º graus) e oligodrâmnio relativo ou absoluto foram considerados fatores associados com a presença de malformações congênitas do SNC. A investigação de aspectos relacionados à presença destas malformações permite estabelecer grupos com fatores associados, diagnosticar precocemente e promover ações de saúde pertinentes que visem à prevenção primária e secundária, com importantes repercussões prognósticas neonatais.

ICD‐10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system

We compared Brazilian oral cleft (OC) frequencies between the population-based Brazilian System of Live Birth (SINASC) and the hospital-based Latin American Collaborative Study of Congenital Malformations (ECLAMC), trying to understand the paucity of cleft of lip and palate (CLP) in the first system. SINASC uses the International Classification of Disease version 10 (ICD-10) for congenital defects coding, ECLAMC uses ICD-8 with modifications. In SINASC, the CLP frequency was 1.7 per 10,000 (95% confidence limits 1.7-1.8), cleft lip (CL) 1.6 (1.5-1.7), and cleft palate (CP) 2.0 (1.9-2.1). In ECLAMC, the CLP frequency was 10.4 per 10,000 (9.0-12.1), CL 5.5 (4.5-6.7), and CP 4.4. (4.5-6.7). In SINASC, only 33% of the oral clefts were CLP, versus 51% in ECLAMC. Part of this discrepancy may have been due to the relative excess of CP and CL cases. Although congenital defect frequencies are usually lower in population than in hospital-based registries, differences in the proportion of the main OC categories are not expected and are probably due to ICD-10 coding issues, such as lumping of unilateral CL and CL without other specifications. ICD-10 codes, whose deficiency for oral clefts is fully explained in the literature, lack modifiers for severity, or clinical subtypes. This paper shows the practical aspect of the ICD-10 system deficiency in capturing cleft lip and palate (CLP) subtypes, as demonstrated in SINASC covering three million births per year. Such errors are expected to occur in any registry that uses the ICD-10 coding system, and must be adjusted, given its relevance worldwide.

CASE STUDY OF CONGENITAL ANOMALIES OF THE UPPER LIMB IN REFERENCE AMBULATORY CARE FACILITY.

ABSTRACTObjectiveThe epidemiological profile of congenital anomalies of the upper limbs (CAULs) is of major relevance to monitoring and planning. A study of this profile may reveal if there is prevalence of some specific type of malformation in comparison to a more comprehensive epidemiological sample. The Latin American Collaborative Study of Congenital Malformations (ECLAMC) has an extensive database, providing an excellent source of comparison. This study aims to evaluate the epidemiological profile of CAULs at the hand surgery department of the Hospital Federal da Lagoa (HFL) in Brazil, and compare it to the ECLAMC data.MethodsWe conducted a retrospective analysis of patients who underwent treatment at the pediatric outpatient hand surgery clinic. The sample universe consisted of 126 patients (4 of these patients presented with 2 simultaneous anomalies), totaling 130 malformations.ResultsThe results demonstrated that the comparable pathologies have significantly similar incidence rates. It is worth noting the polydactylies (pre- and post-axial), where the percentile of incidence in the ECLAMC was higher.ConclusionThis study showed that the epidemiological profile of patients who underwent treatment at this hospital was equivalent to that found in the ECLAMC database. Level of evidence III, Retrospective epidemiological study.

Prevalence and clinical profile of microcephaly in South America pre-Zika, 2005-14: prevalence and case-control study

Objective To describe the prevalence and clinical spectrum of microcephaly in South America for the period 2005-14, before the start of the Zika epidemic in 2015, as a baseline for...

ECLAMC Study: Prevalence patterns of hypospadias in South America: Multi-national analysis over a 24-year period.

ABSTRACTObjective To evaluate prevalence trends of hypospadias in South-America it is essential to perform multicenter and multinational studies with the same methodology. Herein we present systematic data as part of an international multicenter initiative evaluating congenital malformations in South America over a 24-year period.Materials and Methods A nested case-control study was conducted using the Latin American Collaborative Study of Congenital Malformations (ECLAMC), between January 1989 and December 2012. Cases were stratified as isolated (IH) and non-isolated hypospadias (NIH). Global prevalence was calculated and discriminated by country. Associations between birth weight and gestational age, and NIH distribution by associated abnormality and severity of hypospadias, were analyzed.Results A total of 159 hospitals from six countries participated, reporting surveillance on 4.020.384 newborns. A total of 4.537 hypospadias cases were detected, with a global prevalence of 11.3/10.000 newborns. Trend analyses showed in Chile, Brazil and Uruguay a statistically significant increase in prevalence. Analysis of severity and associated anomalies did not to find an association for distal cases, but did for proximal (RR=1.64 [95% CI=1.33-2.03]).Conclusion This is one of only a few Latin American multicenter studies reporting on the epidemiology of hypospadias in South America in the last two decades. Our data adds to evidence suggesting an increase in some countries in the region at different times. There were also variations in prevalence according to severity. This study adds to literature describing associated anomalies at a hospital-based level.

Prevalence of birth defects in Risaralda, 2010-2013

The data regarding birth defects at local levels in developing countries like Colombia are scarce. To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations. We analyzed the data using Stata 10®. We found a prevalence of nine defects per 1,000 newborns from the total live births in Risaralda. The local clinic registered in the Collaborative Study of Congenital Malformations registered a prevalence of 34 defects per 1,000 births. Most frequent defects were heart defects, followed by cleft lip and palate, abdominal wall defects, skeletal dysplasia, hydrocephalus, polydactyly and Down syndrome. Having a baseline on the prevalence of congenital defects in Risaralda is very useful in the design of prevention policies oriented to decrease congenital defects incidence and severity. Inclusion of maternity hospitals in the Collaborative Study of Congenital Malformations strengthens national recording and reporting of birth defects.

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America.

ABSTRACTIntroduction:Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies.Materials and Methods:A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly.Results:Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns.Discussion:Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly.Conclusion:Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach.

Altitude as a risk factor for the development of hypospadias. Geographical cluster distribution analysis in South America

Hypospadias is the most common congenital anomaly affecting the genitals. It has been established as a multifactorial disease with increasing prevalence. Many risk factors have been identified such as prematurity, birth weight, mother's age, and exposure to endocrine disruptors. In recent decades multiple authors using surveillance systems have described an increase in prevalence of hypospadias, but most of the published literature comes from developed countries in Europe and North America and few of the published studies have involved cluster analysis. Few large-scale studies have been performed addressing the effect of altitude and other geographical aspects on the development of hypospadias. Acknowledging this limitation, we present novel results of a multinational spatial scan statistical analysis over a 30-year period in South America and an altitude analysis of hypospadias distribution on a continent level. A retrospective review was performed of the Latin American collaborative study of congenital malformations (ECLAMC). A total of 4,020,384 newborns was surveyed between 1982 and December 2011 in all participating centers. We selected all patients with hypospadias. All degrees of clinical severity were included in the analysis. Each participating center was geographically identified with its coordinates and altitude above sea level. A spatial scan statistical analysis was performed using Kulldorf's methodology and a prevalence trend analysis over time in centers below and above 2000m. During the study period we found 159 hospitals in six different countries (Colombia, Bolivia, Brazil, Argentina, Chile, and Uruguay) with 4,537 cases ofhypospadias and a global prevalence rate of11.3/10,000 newborns. Trend analysis showed that centers below 2000m had an increasing trend with an average of 10/10,000 newborns as opposed to those centers above 2000m that showed a reducing trend with an average prevalence of 7.8 (p=0.1246). We identified clusters with significant increases of prevalence in five centers along the coast at an average altitude of 219.8m above sea level (p>0.0000). Reduction in prevalence was found in clusters located in two centers on the Andes mountains. Altitude of 2,000m was associated with hypospadias (Figure), with an OR 0.59 (0.5-0.69). There are ethnic arguments to support our results supported by protective polymorphism distribution in high lands. Altitude above 2,000m is suggested to have a protective effect for hypospadias. Specific clusters have been identified with increased risk for hypospadias. Environmental risk factors in these areas need to be further studied given the association seen between altitude and the distribution of more severe cases.

El estrés materno como factor de riesgo para fisuras labio-palatinas

Introduction: several studies have shown an association between stress caused by natural disasters, acts of terrorism and war, which have been corroborated by experimental studies in rats, with presence of oral clefts (FO) in the children of women who suffered stress in the first weeks of pregnancy. Objectives: To demonstrate the relationship between stress caused by the earthquake and tsunami that struck the central and south regions of Chile, on February 27, 2010 and the prevalence rate of FO in the disaster area. Material and Methods: Registration of ECLAMC (Latin American Collaborative Study of Congenital Malformations) Period 2000- 2011. With this information we created two groups: Group 1: Children born before the event, from 2002 to 2009 up to 6 months after earthquake, that means August 2010. Group 2: the postearthquake period, from the seventh month after the earthquake (September) until the end of 2011. Results: the prevalence of oral clefts of the first group was 0.88 per thousand births (0.57 for cleft lip and cleft palate 0.30) .and the second group of 1.07 per thousand, (0.70 cleft lip and cleft palate 0.37) statistically significant difference (p

Biosocial correlates and spatial distribution of consanguinity in South America

To analyze potential biosocial factors in consanguineous unions according to the level of consanguinity and its spatial distribution in South America. The data used came from the Latin American Collaborative Study of Congenital Malformations. Information on 126,213 nonmalformed newborns out of 6,014,749 births was used. This information was collected between 1967 and 2011 at 204 hospitals in 116 cities in 10 South American countries. The spatial scan statistic was performed under a model of nonhierarchical k-means segmentation, based on statistically significant clusters, areas with levels of high, medium, and low consanguinity were determined. Consanguinity in South America is heterogeneously distributed, with two groups of high consanguinity, in northwestern Venezuela and southeast of Brazil, and two clusters of low consanguinity located in the south of the continent, mainly Argentina. The socio-demographic factors associated with consanguinity influence the population structure in areas of high consanguinity. This study demonstrates that consanguinity in the South American continent is strongly associated with a greater magnitude of poverty in the area of high consanguinity. Am. J. Hum. Biol. 28:405-411, 2016. © 2015 Wiley Periodicals, Inc.

Anomalias Congénitas Identificadas ao Nascimento em Recém-Nascidos de Mulheres Adolescentes

To analyze the prevalence of congenital anomalies detected at birth among children of pregnant adolescents, emphasizing the most common types and the time of diagnosis. Retrospective study of type census, in which were analyzed in all newborns, living or dead, weighing more than 500 g of women who gave birth at Hospital São Paulo in a period of six years. The fetuses bearing anomalies were identified prenatally or through postnatal physical examination period, according to the criteria of the Latin American Collaborative Study of Congenital Malformations. The results were expressed descriptively using absolute and relative values, the prevalence of anomalies was calculated, as well as the comparison between groups using nonparametric tests. We analyzed 6 257 pregnancies, of which 577 newborns had some congenital anomaly identified at birth (prevalence 9.2%). Among these 6 257, 907 were adolescents, which showed a 9.9% prevalence of anomalies among their newborns. There was no significant difference between the presence of abnormalities in newborns of adolescents and women with age greater than or equal to 20 years. About 56% of congenital anomalies were diagnosed in the prenatal period. We observed a higher prevalence of defects of neural tube between newborns of adolescents (p = 0.027). We observed high rate of deliveries in adolescents, higher than developed countries. We observed also high frequency of congenital anomalies in newborns, probably because our tertiary reference center. The high prevalence of neural tube defect among young pregnant women could be explained by the absent of acid folic supplementation in non-planned gestations which is typical of adolescents. The prevalence and time of diagnosis of congenital anomalies showed similar behavior among newborns of teenagers and women with age greater than or equal to 20 years, except for the defects of the neural tube, which were more prevalent among newborns of teenagers.

Frequency of holoprosencephaly in Chile

Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. To estimate holoprosencephaly prevalence at birth. All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).