Paternal age and risk for selected birth defects in a large South American sample.

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.

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

Use of polymethylmethacrylate plaque as a treatment of cranioschisis associated with meningocele in a Girolando heifer: A case report / Uso de placa de polimetilmetacrilato (PMMA) no tratamento de craniosquise associada à meningocele em uma bezerra girolando: relato de caso

Most genetic diseases affect purebred animals and are inherited as recessive genes. Cranioschisis refers to dysraphism, which occurs in the midline of the skull due to failure to close the cranial symphysis, which can lead to herniation of the meninges filled with cerebrospinal fluid (meningocele), where there is usually a projection of the meningeal tissue. Diagnosis is performed based on clinical examination, characteristic anatomopathological data, and complementary imaging tests. The surgical approach for correction of cranioschisis is the only described as a therapeutic solution and is indicated in cases in which the cranial synthesis defect does not allow for brain protrusion and there is only the occurrence of meningocele, in addition to the absence of severe signs of neurological alteration. This paper reports a case of the use of polymethylmethacrylate (PMMA) plaque to treat cranioschisis associated with meningocele in a Girolando heifer. The surgical opening of the frontonasal sacculation allowed draining a total liquid content of 488 mL, inspection, and suture of the envelope membrane. APMMA plaque, molded to the bone surface and anchored in the adjacent soft tissue, was used to cover the evidenced frontonasal bone opening. Despite the unfavorable prognosis of the disease, the cranioplasty surgery for the treatment of cranioschisis associated with meningocele using PMMA plaque obtained satisfactory results relative to the quality and maintenance of this animal's life, evaluated at 19 months postoperatively.(AU)

A maioria das doenças genéticas acometem animais de raça pura e herdados como genes recessivos.Acraniosquise refere-se à disrafia, que acontece na linha média do crânio pelo não fechamento da sínfise craniana, podendo levar a herniação das meninges repletas de líquido cefalorraquidiano (meningocele), onde geralmente existe projeção do tecido meningeal. O diagnóstico é realizado a partir do exame clínico, dados anatomopatológicos característicos e através da realização de exames complementares de imagem. Como solução terapêutica, a abordagem cirúrgica para correção das craniosquises é a única descrita, e é indicada em casos em que o defeito de síntese craniana não permita a protrusão encefálica e exista a ocorrência apenas da meningocele, além da inexistência de sinais graves de alteração neurológica. O artigo relata um caso de uso de placa de polimetilmetacrilato (PMMA) no tratamento de craniosquise associada à meningocele em uma bezerra Girolando. Instituiu-se a abertura cirúrgica da saculação fronto-nasal, permitindo a drenagem de conteúdo líquido total de 488 mL, inspeção e rafia de membrana envoltória. Para recobrimento da abertura óssea fronto-nasal evidenciada, utilizou-se uma placa de polimetilmetacrilato (PMMA), moldada à superfície óssea e ancorada em tecido mole adjacente. Concluiu-se que, apesar do prognóstico desfavorável da enfermidade, a cirurgia de cranioplastia para tratamento de craniosquise associada à meningocele, com a utilização de placa de PMMA, neste caso, obteve resultados satisfatórios em relação a qualidade e manutenção da vida deste animal, avaliando-se em 19 meses pós-operatório.(AU)

Impact of Pesticides on Cancer and Congenital Malformation: A Systematic Review.

Pesticide exposure has deleterious effects on human health and development; however, no review has been conducted on human exposure to pesticides and the risk of congenital malformations and cancer in the same cohort. We systematically reviewed the evidence for this relationship following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Four databases, namely, PubMed, Scopus, Cochrane Library, and BVS, were searched for studies deposited till July 2020 that examined the influence of pesticide exposure on congenital malformations and cancer outcomes in the same cohort. Seven studies were systematically included in this review. Among these, four were case-control studies, two were cross-sectional studies, and one was a longitudinal cohort study. The sources of contamination were food, water, or exposure during agricultural work. A link between the occurrence of cancer, congenital malformations, and exposure to pesticides was observed in most studies.

The legacy of ZikaPLAN: a transnational research consortium addressing Zika.

Global health research partnerships with institutions from high-income countries and low- and middle-income countries are one of the European Commission's flagship programmes. Here, we report on the ZikaPLAN research consortium funded by the European Commission with the primary goal of addressing the urgent knowledge gaps related to the Zika epidemic and the secondary goal of building up research capacity and establishing a Latin American-European research network for emerging vector-borne diseases. Five years of collaborative research effort have led to a better understanding of the full clinical spectrum of congenital Zika syndrome in children and the neurological complications of Zika virus infections in adults and helped explore the origins and trajectory of Zika virus transmission. Individual-level data from ZikaPLAN`s cohort studies were shared for joint analyses as part of the Zika Brazilian Cohorts Consortium, the European Commission-funded Zika Cohorts Vertical Transmission Study Group, and the World Health Organization-led Zika Virus Individual Participant Data Consortium. Furthermore, the legacy of ZikaPLAN includes new tools for birth defect surveillance and a Latin American birth defect surveillance network, an enhanced Guillain-Barre Syndrome research collaboration, a de-centralized evaluation platform for diagnostic assays, a global vector control hub, and the REDe network with freely available training resources to enhance global research capacity in vector-borne diseases.

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study.

BACKGROUND: Major birth defects increase the risk of fetal death and pediatric hospitalization, which also impact on healthcare costs. Sociodemographic factors can drastically affect reproductive health and be used to discriminate the exposure to hidden risk factors. Foz do Iguassu is a Brazilian city located in the triple-border region of Brazil / Paraguay / Argentina with high rates of birth defects. However no study aimed to verify factors associated with this incidence or preventive care is reported. The current work investigated the prevalence of major birth defects and its association with maternal sociodemographic factors in Foz do Iguassu. METHODS: In this population-based cross-sectional study we used data of all live births occurred in Foz do Iguassu from 2012 to 2017. The associated sociodemographic variables such as maternal age, maternal education, maternal race, country of residence, maternal parity and onset of prenatal care were analyzed. Each major birth defect was described according to absolute and relative frequencies, Kruskal-Wallis and logistic regression models were used to evaluate variables associated with selected birth defects. RESULTS: The most prevalent major birth defects were Cleft Lip and/or Palate (9.5/10,000), gastroschisis (6.93/10,000), spina bifida (5.53/10,000), hydrocephalus (5.53/10,000), hypospadias (4.55/10,000), Down syndrome (4.23/10,000), anencephaly (2.93/10,000), anorectal atresia / stenosis (1.95/10,000), undetermined sex (1.95/10,000), esophageal atresia / stenosis with or without fistula (1.63/10,000) and limb reduction defects (1.30/10,000). Maternal age was associated with gastroschisis and Down syndrome. Only maternal education up to 7 years was statistically associated with major birth defects considering all other sociodemographic variables. CONCLUSION: Cleft Lip and/or Palate and Gastroschisis prevalence were higher than those found in the literature. This findings may suggest a distinct epidemiological behavior regarding major birth defects in the region. The work opens new perspectives for birth defects risk factors in the triple-border.

Zika virus detection in amniotic fluid and Zika-associated birth defects.

BACKGROUND: Zika virus infection during pregnancy can cause serious birth defects, which include brain and eye abnormalities. The clinical importance of detection of Zika virus RNA in amniotic fluid is unknown. OBJECTIVE: The purpose of this study was to describe patterns of Zika virus RNA testing of amniotic fluid relative to other clinical specimens and to examine the association between Zika virus detection in amniotic fluid and Zika-associated birth defects. Our null hypothesis was that Zika virus detection in amniotic fluid was not associated with Zika-associated birth defects. STUDY DESIGN: We conducted a retrospective cohort analysis of women with amniotic fluid specimens submitted to Colombia's National Institute of Health as part of national Zika virus surveillance from January 2016 to January 2017. Specimens (maternal serum, amniotic fluid, cord blood, umbilical cord tissue, and placental tissue) were tested for the presence of Zika virus RNA with the use of a singleplex or multiplex real-time reverse transcriptase-polymerase chain reaction assay. Birth defect information was abstracted from maternal prenatal and infant birth records and reviewed by expert clinicians. Chi-square and Fisher's exact tests were used to compare the frequency of Zika-associated birth defects (defined as brain abnormalities [with or without microcephaly, but excluding neural tube defects and their associated findings] or eye abnormalities) by frequency of detection of Zika virus RNA in amniotic fluid. RESULTS: Our analysis included 128 women with amniotic fluid specimens. Seventy-five women (58%) had prenatally collected amniotic fluid; 42 women (33%) had amniotic fluid collected at delivery, and 11 women (9%) had missing collection dates. Ninety-one women had both amniotic fluid and other clinical specimens submitted for testing, which allowed for comparison across specimen types. Of those 91 women, 68 had evidence of Zika virus infection based on detection of Zika virus RNA in ≥1 specimen. Testing of amniotic fluid that was collected prenatally or at delivery identified 39 of these Zika virus infections (57%; 15 [22%] infections were identified only in amniotic fluid), and 29 infections (43%) were identified in other specimen types and not amniotic fluid. Among women who were included in the analysis, 89 had pregnancy outcome information available, which allowed for the assessment of the presence of Zika-associated birth defects. Zika-associated birth defects were significantly (P<.05) more common among pregnancies with Zika virus RNA detected in amniotic fluid specimens collected prenatally (19/32 specimens; 59%) than for those with no laboratory evidence of Zika virus infection in any specimen (6/23 specimens; 26%), but the proportion was similar in pregnancies with only Zika virus RNA detected in specimens other than amniotic fluid (10/23 specimens; 43%). Although Zika-associated birth defects were more common among women with any Zika virus RNA detected in amniotic fluid specimens (ie, collected prenatally or at delivery; 21/43 specimens; 49%) than those with no laboratory evidence of Zika virus infection (6/23 specimens; 26%), this comparison did not reach statistical significance (P=.07). CONCLUSION: Testing of amniotic fluid provided additional evidence for maternal diagnosis of Zika virus infection. Zika-associated birth defects were more common among women with Zika virus RNA that was detected in prenatal amniotic fluid specimens than women with no laboratory evidence of Zika virus infection, but similar to women with Zika virus RNA detected in other, nonamniotic fluid specimen types.

Prenatal detection of congenital anomalies and related factors in Argentina.

Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Sources were reports of RENAC from the 2013-2016 period. Congenital anomalies included were those detectable by ultrasound or by a prenatal karyotype. PDR was calculated by region, health subsector, clinical presentation, maternal age, sex, and twining. Using multiple logistic regression analysis, we evaluated predictors of prenatal detection. In total, 9976 cases were defined as prenatal detectable; 5021 were detected (PDR = 50.3%). Multiple presentation increased the chances of prenatal detection (Adj. OR = 1.6; 95%CI 1.4-1.9). Prenatal detection was lower in the public subsector (Adj. OR = 0.8; 95%CI 0.7-0.9) and in the northern regions of the country. PDR was higher than 75% in isolated cases of urinary malformation, anencephaly, and gastroschisis. Prenatal detection increased the chance of birth in higher complexity-level hospitals (Adj. OR = 2.5; 95%CI 2.3-2.8). PDR was within the range previously reported. Heterogeneity between regions and health subsector suggests the need for training to achieve equity in detection.

ZikaPLAN: addressing the knowledge gaps and working towards a research preparedness network in the Americas.

Zika Preparedness Latin American Network (ZikaPLAN) is a research consortium funded by the European Commission to address the research gaps in combating Zika and to establish a sustainable network with research capacity building in the Americas. Here we present a report on ZikaPLAN`s mid-term achievements since its initiation in October 2016 to June 2019, illustrating the research objectives of the 15 work packages ranging from virology, diagnostics, entomology and vector control, modelling to clinical cohort studies in pregnant women and neonates, as well as studies on the neurological complications of Zika infections in adolescents and adults. For example, the Neuroviruses Emerging in the Americas Study (NEAS) has set up more than 10 clinical sites in Colombia. Through the Butantan Phase 3 dengue vaccine trial, we have access to samples of 17,000 subjects in 14 different geographic locations in Brazil. To address the lack of access to clinical samples for diagnostic evaluation, ZikaPLAN set up a network of quality sites with access to well-characterized clinical specimens and capacity for independent evaluations. The International Committee for Congenital Anomaly Surveillance Tools was formed with global representation from regional networks conducting birth defects surveillance. We have collated a comprehensive inventory of resources and tools for birth defects surveillance, and developed an App for low resource regions facilitating the coding and description of all major externally visible congenital anomalies including congenital Zika syndrome. Research Capacity Network (REDe) is a shared and open resource centre where researchers and health workers can access tools, resources and support, enabling better and more research in the region. Addressing the gap in research capacity in LMICs is pivotal in ensuring broad-based systems to be prepared for the next outbreak. Our shared and open research space through REDe will be used to maximize the transfer of research into practice by summarizing the research output and by hosting the tools, resources, guidance and recommendations generated by these studies. Leveraging on the research from this consortium, we are working towards a research preparedness network.

ZikaPLAN: addressing the knowledge gaps and working towards a research preparedness network in the Americas

Zika Preparedness Latin American Network (ZikaPLAN) is a research consortium funded by the European Commission to address the research gaps in combating Zika and to establish a sustainable network with research capacity building in the Americas. Here we present a report on ZikaPLAN's mid-term achievements since its initiation in October 2016 to June 2019, illustrating the research objectives of the 15 work packages ranging from virology, diagnostics, entomology and vector control, modelling to clinical cohort studies in pregnant women and neonates, as well as studies on the neurological complications of Zika infections in adolescents and adults. For example, the Neuroviruses Emerging in the Americas Study (NEAS) has set up more than 10 clinical sites in Colombia. Through the Butantan Phase 3 dengue vaccine trial, we have access to samples of 17,000 subjects in 14 different geographic locations in Brazil. To address the lack of access to clinical samples for diagnostic evaluation, ZikaPLAN set up a network of quality sites with access to well-characterized clinical specimens and capacity for independent evaluations. The International Committee for Congenital Anomaly Surveillance Tools was formed with global representation from regional networks conducting birth defects surveillance. We have collated a comprehensive inventory of resources and tools for birth defects surveillance, and developed an App for low resource regions facilitating the coding and description of all major externally visible congenital anomalies including congenital Zika syndrome. Research Capacity Network (REDe) is a shared and open resource centre where researchers and health workers can access tools, resources and support, enabling better and more research in the region. Addressing the gap in research capacity in LMICs is pivotal in ensuring broad-based systems to be prepared for the next outbreak. Our shared and open research space through REDe will be used to maximize the transfer of research into practice by summarizing the research output and by hosting the tools, resources, guidance and recommendations generated by these studies. Leveraging on the research from this consortium, we are working towards a research preparedness network.

Periconception Exposure to Air Pollution and Risk of Congenital Malformations.

OBJECTIVE: To evaluate the association between increased exposure to airborne fine particulate matter (PM2.5) during the periconception period with risk of congenital anomalies. STUDY DESIGN: Using birth certificate data from the Ohio Department of Health (2006-2010) and PM2.5 data from the US Environmental Protection Agency's 57 monitoring stations located throughout Ohio, the geographic coordinates of the mother's residence for each birth were linked to the nearest PM2.5 monitoring station and monthly exposure averages were calculated. The association between congenital anomalies and increased PM2.5 levels was estimated, with adjustment for coexistent risk factors. RESULTS: After adjustment for coexisting risk factors, exposure to increased levels of PM2.5 in the air during the periconception period was modestly associated with risk of congenital anomalies. Compared with other periconception exposure windows, increased exposure during the 1 month before conception was associated with the highest risk increase at lesser distances from monitoring stations. The strongest influences of PM2.5 on individual malformations were found with abdominal wall defects and hypospadias, especially during the 1-month preconception. CONCLUSIONS: Increased exposure to PM2.5 in the periconception period is associated with some modest risk increases for congenital malformations. The most susceptible time of exposure appears to be the 1 month before and after conception. Although the increased risk with PM2.5 exposure is modest, the potential impact on a population basis is noteworthy because all pregnant women have some degree of exposure.

The Effect of Level of Care on Gastroschisis Outcomes.

OBJECTIVE: To examine the relationship between level of care in neonatal intensive care units (NICUs) and outcomes for newborns with gastroschisis. STUDY DESIGN: A retrospective cohort study was conducted at 130 California Perinatal Quality Care Collaborative NICUs from 2008 to 2014. All gastroschisis births were examined according to American Academy of Pediatrics NICU level of care at the birth hospital. Multivariate analyses examined odds of mortality, duration of mechanical ventilation, and duration of stay. RESULTS: For 1588 newborns with gastroschisis, the adjusted odds of death were higher for those born into a center with a level IIA/B NICU (OR, 6.66; P = .004), a level IIIA NICU (OR, 5.95; P = .008), or a level IIIB NICU (OR, 5.85; P = .002), when compared with level IIIC centers. The odds of having more days on ventilation were significantly higher for births at IIA/B and IIIB centers (OR, 2.05 [P < .001] and OR, 1.91 [P < .001], respectively). The odds of having longer duration of stay were significantly higher at IIA/B and IIIB centers (OR, 1.71 [P < .004]; OR, 1.77 [P < .001]). CONCLUSIONS: NICU level of care was associated with significant disparities in odds of mortality for newborns with gastroschisis.

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. CASE PRESENTATION: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain. Exons 4 and 5 of the SP-C gene showed heterozygous Thr138Asn polymorphism and homozygous Asn186Asn polymorphism respectively. At intron 25 at position -98 from exon 26 a homozygous C>T transition mutation was detected in ABCA3 gene. CONCLUSIONS: The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficiency. An analysis of the mutation IVS25-98 T was performed and a homozygous mutation responsible for our case's neonatal respiratory failure was detected. The findings suggest an autosomic recessive pattern of inheritance. Genetic counseling was provided and the relatives are now informed of the recurrence risks and treatment options.

Secuencia de Poland, de las bases embriológicas a la práctica clínica / Poland sequence, going from the embryological bases to the clinical practice

La secuencia de Poland es un defecto congénito típicamente descrito como la ausencia congénita unilateral del músculo pectoral, que puede encontrarse asociado a la aparición de otras anomalías torácicas ipsilaterales y/o de extremidades superiores, las cuales abarcan diferentes grados de severidad funcional y de alteraciones estéticas. En la literatura se describen distintas asociaciones con diferentes síndromes, sin embargo su etiología es aún desconocida, aunque existen varias hipótesis sobre su posible causa, y es la más aceptada aquella que hace referencia a procesos de disrupción vascular. En la práctica clínica, las formas de expresión leve pueden ser ignoradas, pero en los casos más severos es requerida la atención de grupos multidisciplinarios de especialistas para su tratamiento. Se hace una revisión sistemática de la literatura sobre la secuencia de Poland(AU)

Poland sequence is a birth defect typically described as unilateral congenital absence of the pectoralis muscle, which may be associated with the occurrence of other ipsilateral thoracic and/or upper extremities anomalies that cover different degrees of functional severity and esthetic alterations. The literature describes various types of association with different syndromes; however, its etiology remains unknown and several hypotheses about the possible cause of this disease exist, being the most accepted the one that deals with vascular disruption processes. In the clinical practice, mild forms of expression can be ignored, but in the most severe cases, the attention of a multidisciplinary group of specialists is required for disease management. A systematic literature review on Poland sequence was made(AU)

Secuencia de Poland, de las bases embriológicas a la práctica clínica / Poland sequence, going from the embryological bases to the clinical practice

La secuencia de Poland es un defecto congénito típicamente descrito como la ausencia congénita unilateral del músculo pectoral, que puede encontrarse asociado a la aparición de otras anomalías torácicas ipsilaterales y/o de extremidades superiores, las cuales abarcan diferentes grados de severidad funcional y de alteraciones estéticas. En la literatura se describen distintas asociaciones con diferentes síndromes, sin embargo su etiología es aún desconocida, aunque existen varias hipótesis sobre su posible causa, y es la más aceptada aquella que hace referencia a procesos de disrupción vascular. En la práctica clínica, las formas de expresión leve pueden ser ignoradas, pero en los casos más severos es requerida la atención de grupos multidisciplinarios de especialistas para su tratamiento. Se hace una revisión sistemática de la literatura sobre la secuencia de Poland.

Poland sequence is a birth defect typically described as unilateral congenital absence of the pectoralis muscle, which may be associated with the occurrence of other ipsilateral thoracic and/or upper extremities anomalies that cover different degrees of functional severity and esthetic alterations. The literature describes various types of association with different syndromes; however, its etiology remains unknown and several hypotheses about the possible cause of this disease exist, being the most accepted the one that deals with vascular disruption processes. In the clinical practice, mild forms of expression can be ignored, but in the most severe cases, the attention of a multidisciplinary group of specialists is required for disease management. A systematic literature review on Poland sequence was made.

Comportamiento clínico epidemiológico de las cardiopatías congénitas en el primer año de vida / Clinical epidemiological behavior of congenital cardiopathies in first year children

Fundamento: los defectos congénitos del corazón son el grupo más común de anomalías congénitas y en su mayoría constituye, por su evolución e impacto fisiopatológico, en una enfermedad crónica de la infancia. Objetivo: describir algunas características clínicas de los pacientes con cardiopatías congénitas en la provincia de Sancti Spiritus. Metodología: se realizó un estudio descriptivo de corte longitudinal sobre el comportamiento de las cardiopatías congénitas en la provincia de Sancti Spiritus durante el período comprendido de enero del 2011 a diciembre del 2012 abarcó a todos los niños nacidos en la maternidades de toda la provincia, así como los atendidos en la consultas de cardiología pediátrica provincial. Las variables utilizadas fueron sexo, edad al diagnóstico, síntomas clínicos de presentación. Resultados: la incidencia de cardiopatía congénita fue de 3,3 por cada mil nacidos vivos, el diagnóstico de dicha afección ocurrió durante el 1er mes de nacido en 19 pacientes para un 56 %. Los signos clínicos de presentación fueron soplo asintomático 62 %, seguido de las dificultad cardiorespiratoria. Conclusiones: las malformaciones congénitas del aparato cardiovascular son un elemento importante a tener en cuenta al valorar a todos los pacientes al nacimiento en las maternidades.

Background: congenital heart defects are the most common group of congenital anomalies and the majority of them due to their evolution and pathophysiological impact are a chronic disease of childhood. Objective: to describe some clinical characteristics of patients with congenital heart disease in the province of Sancti Spíritus . Methodology: a descriptive longitudinal study on the behavior of congenital cardiopathies in the province of Sancti Spíritus from January 2011 to December 2012, it encompassed all children born in maternity hospitals across the province, as well as all cared patients at the provincial pediatric cardiology consultations. The variables used were sex, age at diagnosis and clinical presenting symptoms. Results: the incidence of congenital heart disease was 3.3 per thousand live births, the diagnosis of the condition occurred during the 1st month of age in 19 patients for a 56%. Clinical signs at presentation were asymptomatic heart murmur 62%, followed by cardiorespiratory difficulty. Conclusions: congenital malformations of the cardiovascular system are important to consider when assessing all patients at birth in maternity hospitals.

Síndrome de Meckel con onfalocele y labio fisurado / Meckel syndrome with omphalocele and cleft lip

El síndrome de Meckel es un desorden autosómico recesivo, raro y letal. Se caracteriza por múltiples malformaciones, entre estas, la triada de encefalocele occipital, riñones poliquísticos y polidactilia. Se presenta un caso con múltiples malformaciones incluyendo las menos frecuentes como el onfalocele, la hipospadia y el labio fisurado.

The Meckel Gruber syndrome is a lethal, rare and autosomal disorder. It is characterized by multiple malformations, among these the triad of occipital encephalocoele, large polycystic kidneys and post-axial polydactyly. A case with multiple malformations, including the less frequent as omphalocele, hypospadias and cleft lip is presented.

Estudio epidemiológico global del síndrome de Down / Global epidemiological study of Down's syndrome

Introduction: In 1967, the Latin American Collaborative Study of Congenital Malformations (LASCM) was created. Currently, 180 hospitals in 76 cities of 9 Latin American countries participate, accumulating data from over 4.5 M births. The Clinical Hospital of the University of Chile (HCUCH) entered the study in 1967, as did 12 other institutions later on. Objectives: Verify changes (increase) in frequency of Down's Syndrome (DS) in Chile and Latin America, and modification of frequency in those countries where elective abortion is permitted. Patients y Method: Three samples were evaluated: Births at HCUCH, active chilean hospitals and the 180 hospitals in 9 LA countries between 1972 and 2009. DS frequencies in Chile and other countries were compared through the International Clearinghouse for Birth Defects Monitoring System. Results: DS frequency at HCUCH increased significantly from 1.03 per thousand births in 1972 to 2.93 /oo births 2009. Frequencies in all chilean hospitals are fairly homogeneous, all higher than average for LASCM, which is 1.88 per thousand. The chilean average is 2.47/ºº por the period between 1998-2005, with a range of 1.88 at HCUCH to 2.86 at the Hospital of Curicó. In the rest of the world, the rate of DS per birth has diminished significantly, being the lowest in Iran (0.32/o<>) and Spain (0.6/oo live births). Conclusion: Rate of DS births are higher in Chile than LASCM average (2.47/o<>), with a trend to increase. This is true in Latin America, where the average for the period between 2001-2005 was 2.89 per thousand live births. In Europe and Asia, these rates have decreased to very low numbers, such as 0.32/o<> in Iran and 0.6/o<> in Spain.

Introducción: El ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congenitas) fue creado en 1967. Actualmente, lo integran 180 hospitales de 76 ciudades de 9 países Latino Americanos y ha acumulado más de 4,5 millones de nacimientos. El Hospital Clínico de la Universidad de Chile (HCUCH) ingresó en 1967 y después otros 12 establecimientos chilenos. Objetivos: Verificar si la frecuencia de síndrome de Down (SD) está aumentando en Chile y Latino América y como se ha visto modificada en los países en que está permitido el aborto electivo. Pacientes y Método: Se estudió 3 muestras: Todos los nacimientos del HCUCH desde 1972 a 2009; de los hospitales chilenos activos y de los 180 hospitales de 9 países Latinoamericanos. Se comparó las frecuencias de SD de Chile y del ECLAMC con otros países que participan en el Internacional Clearinghouse for Birth Defects Monitoring System. Resultados: La frecuencia del SD en el HCUCH aumentó significativamente de 1,03 por mil nacimientos en 1972 a 2,93 por mil en 2009. Las frecuencias en los hospitales chilenos son muy homogéneas, todas más altas que el promedio del ECLAMC: 1,88 por mil. El promedio chileno para el período 1998-2005 fue de 2,47 por mil. Con un rango de 1,88 por mil del HCUCH y 2,86 por mil del Hospital de Curicó. En el resto del mundo se ha asistido a una disminución significativa de las tasas de SD, siendo las más bajas la de Irán: 0,32 por mil y España 0,60 por mil nacimientos vivos. Conclusión: En Chile, las tasas de SD son mayores al promedio del ECLAMC 2,47 por mil existiendo una tendencia al aumento de ellas lo mismo que en Latino América, donde el promedio para el período 20012005 fue de 2,89 por mil. En Europa y Asia las tasas han disminuido a cifras extremas, Irán 0,32 por mil y España 0,60 por mil.

Malformações congênitas: aspectos maternos e perinatais / Congenital defects: maternal and perinatal features

Introdução: As malformações congênitas são todas as anomalias funcionais ou estruturais do desenvolvimento fetal decorrentes de fatores originados anteriormente ao nascimento, de causas genética, ambiental ou desconhecida e estão relacionadas com elevada morbi-mortalidade perinatal. Objetivo: Identificar a prevalência das malformações congênitas e de aspectos maternos e perinatais relacionados às deformidades. Metodologia: Estudo transversal, do tipo caso-controle, dos nascimentos ocorridos no Hospital Geral da Universidade de Caxias do Sul, no período de 1998 a 2007. Os dados foram armazenados no SPSS, versão 16.0. Foram utilizados teste T de Student e o teste de Mann-Whitney, com nível de significância estatística p<0,05. Resultados: Dentre os 14.351 nascimentos foram identificados 247 casos (1,7%) de recém-nascidos portadores de algum tipo de malformação congênita: geniturinárias (n=55), associação de malformações (n=53), sistema músculo-esquelético (n=45), sistema nervoso central (n=43), gastrintestinais (n=29) e cardiovasculares (n=22). Idade materna, diabete melito, cor da pele, intervalo interpartal, paridade e ocorrência de ameaça de interrupção precoce da gestação não apresentaram associação significativa com as MCs citadas. Via de parto, peso do concepto no nascimento, ocorrência de PIG, necessidade de tratamento em ambiente de intensivismo neonatal, apresentação pélvica, idade gestacional média, natimortalidade, oligodrâmnio e polidrâmnio associaram-se significativamente à presença do defeito congênito (p<0,001). Conclusão: As malformações congênitas de maior prevalência foram geniturinária e associação de malformações. Esta última condição e as malformações do sistema nervoso central estiveram mais associadas ao óbito perinatal.

Introduction: Congenital malformations (CMs) are all the functional or structural abnormalities of the fetal growth, resulting from prenatal factors of genetic, environmental or idiopathic etiology, and they are associated with high perinatal morbidity and mortality rates. Aim: To identify the prevalence of congenital malformations and maternal and perinatal features related to deformities. Methods: This is a transversal, case-control study of the births occurring in the General Hospital of the University of Caxias do Sul from 1998 to 2007. The data were analyzed using software SPSS, 16.0. A statistical analysis was carried out using Student’s t-test and Mann-Whitney’s test with significance at p<0.05. Results: Among 14.351 births, 247 cases (1.7%) of newborns with some type of congenital malformation were identified as follows: genitourinary (n=55), combined malformations (n=53), musculoskeletal system (n=45), central nervous system (n=43), gastrointestinal (n=29), and cardiovascular (n=22) malformations. Maternal age, diabetes mellitus, skin color, interparturition interval, parity, and occurrence of threat of early interruption of gestation, were not significantly associated with the mentioned CMs. Delivery route, birth weight, occurrence of SGA, need for neonatal intensive care, breech presentation, mean gestational age, stillbirth rate,oligohydramnios and polyhydramnios were significantly associated with the presence of congenital defects (p<0.001). Conclusion: The congenital alformations of higher prevalence were the genitourinary and the combined malformations. The latter and the central nervous system malformations were more associated with perinatal death.

Artrogriposis múltiple congénita en gemelo monocoriónico biamniótico: Reporte de caso y revisión de la literatura / A case report of arthrogryposis multiplex congenita in monochorionic biamniotic twins

Introducción: la artrogriposis múltiple congénita es un grupo de desórdenes musculoesqueléticos de muy rara aparición, caracterizados por contracturas múltiples articulares, en los que se afectan los músculos de los miembros superiores, inferiores y del dorso. La etiología de esta condición permanece desconocida y muchos agentes causales han sido implicados, particularmente infecciones virales y condiciones restrictivas intrauterinas. Objetivo: aportar a la literatura un caso de artrogriposis múltiple congénita (AMC) en un embarazo gemelar monocoriónico biamniótico, y revisar la etiología y fisiopatogenia de esta malformación congénita. Presentación del caso: en el segundo gemelo de sexo masculino, con un peso de 1345 g, se observó acortamiento de las cuatro extremidades de todos los segmentos, contracturas articulares que llevaban a una desviación marcada de manos y pies hacia la línea media, e imposibilidad de los movimientos activos. Discusión: el presente reporte describe AMC en unodelosgemelosidénticos, lo cual sugiere que esta condición no se presentó por alteraciones cromosómicas o enfermedades hereditarias, sino por uno o varios factores extrínsecos al feto, probablemente de origen mecánico, que pueden comprometer el desarrollo normal de las articulaciones y llevar a la aparición de AMC. En la literatura revisada, éste es el cuarto reporte de características similares.

Arthrogryposis multiplex congenita (AMC) is a group of rarely occurring musculoskeletal disorders, characterised by multiple joint contractures affecting the muscles of the upper and lower limbs and the back. This condition’s aetiology remains unknown and many causal agents have been implicated, particularly viral infections and intra-uterine restrictive conditions. Objective: contributing a case of AMC in a monochorionic biamniotic twin pregnancy to the literature and reviewing this congenital malformation’s aetiology and physiopathogeny. Case presentation: a second-born male twin, weighing 1345 gr, shortening of the four limbs in all segments was observed, accompanied by joint contractures leading to marked hand and foot deviation towards the mid line and the impossibility of active movement. Discussion: AMC being displayed in one of the identical twins mentioned in the present report suggests that this condition did not take place because of chromosomal alteration or a hereditary disease. Rather, it was presented because of one or several external factors (probably mechanical) affecting the foetus which may have jeopardised the normal development of the joints and led to AMC appearing. This is the fourth report of similar characteristics in the literature reviewed.