Congenital limb reduction defects in 1.6 million births in Argentina.

The objectives of this study were to describe the birth prevalence of limb reduction defects (LRD) in Argentina, their clinical features, and to review the literature on this topic. The data source was the National Network of Congenital Anomalies of Argentina, a surveillance system that has been operative since 2009. Data were collected from November 1, 2009 to December 31, 2016. 1,663,610 births and 702 affected patients were registered during this period. The prevalence of LRD was 4.22/10,000 births (CI 95%: 3.93-4.54). In 15,094 stillbirths, prevalence was 30.80/10,000 (CI 95%: 22.31-40.65). Perinatal mortality (stillbirths plus early neonatal deaths) was 24.6%, mostly explained by postnatal deaths. LRD were classified according to different variables, including Gold's anatomic classification. Then, 41.0% of patients had transverse terminal defects and 50.2% had longitudinal defects. We found multiple and syndromic clinical presentation to be associated with both preaxial LRD and lethality. The prevalence of LRD was lower and perinatal mortality was higher in our study compared to that of previously published studies. Because there is heterogeneity in the inclusion and exclusion criteria among publications, a greater effort should be made in order to include similar populations and to use a unified anatomic classification and nomenclature.

[Systems for surveillance of birth defects in Latin America and the Caribbean: present and futureSistemas de vigilância de anomalias congênitas na América Latina e Caribe: presente e futuro]. / Sistemas de vigilancia de anomalías congénitas en América Latina y el Caribe: presente y futuro.

OBJECTIVES: To determine the availability of national systems for surveillance of birth defects in Latin America and the Caribbean and describe their characteristics. METHODS: Cross-sectional study based on a semi-structured, self-administered online survey sent in 2017 by local representative offices of the Pan American Health Organization to authorities at the ministries of health of all countries in Latin America and the Caribbean. The survey obtained information on the availability and characteristics of national systems for surveillance of birth defects in each country. RESULTS: Eleven countries have a national system for surveillance of birth defects: Argentina, Colombia, Costa Rica, Cuba, Dominican Republic, Guatemala, Mexico, Panama, Paraguay, Uruguay, and Venezuela. These systems have heterogeneous features: six are hospital-based; 10 include both live births and stillbirths in their case definition. All the surveillance systems include cases with severe and minor defects, except in Argentina, Colombia, and Guatemala, where only severe birth defects are recorded. Only Argentina, Costa Rica, and Uruguay prepare periodic reports that consolidate and present the results of surveillance. The registries in Argentina and Costa Rica have operational manuals. CONCLUSIONS: The availability of national systems for surveillance of birth defects remains limited and highly heterogeneous in Latin America and the Caribbean. Priority should be given to continued expansion and strengthening of this type of surveillance in these countries.

OBJETIVOS: Conhecer a existência de sistemas nacionais de vigilância de anomalias congênitas na América Latina e Caribe e descrever as características destes sistemas. MÉTODOS: Estudo transversal realizado por meio de uma pesquisa online com uso de questionário semiestruturado e autoaplicado enviado no 2017 pelas representações locais da Organização Pan-Americana da Saúde (OPAS) às autoridades dos ministérios da Saúde em todos os países da América Latina e Caribe. Foram coletados dados sobre a existência de sistema nacional de vigilância de anomalias congênitas e as características destes sistemas. RESULTADOS: Onze países possuem um sistema nacional de vigilância de anomalias congênitas: Argentina, Colômbia, Costa Rica, Cuba, Guatemala, México, Panamá, Paraguai, República Dominicana, Uruguai e Venezuela. Os sistemas são de natureza heterogênea, seis são baseados em registros hospitalares e 10 incluem nascidos vivos e morte fetal na definição de caso. A maioria dos sistemas de vigilância abrange casos de anomalias congênitas maiores e menores, exceto na Argentina, Colômbia e Guatemala em que são registradas apenas as anomalias congênitas maiores. A Argentina, Costa Rica e Uruguai são os únicos países que apresentam relatórios periódicos reunindo os achados da vigilância e a Argentina e Costa Rica possuem manuais operacionais para o registro. CONCLUSÕES: Verificou-se que, na América Latina e no Caribe, os sistemas nacionais de vigilância de anomalias congênitas são ainda em um pequeno número e bastante heterogêneos. É uma prioridade expandir e reforçar esta forma de vigilância nos países da região.

[Descriptive epidemiology of major structural congenital anomalies in Argentina]. / Epidemiología descriptiva de las anomalías congénitas estructurales mayores en Argentina.

The objective of the study is to present the frequency of congenital anomalies (CA) reported to the National Network of Congenital Anomalies of Argentina (RENAC) in the year 2016, as part of its monitoring activities. RENAC is an official, national and hospital-based surveillance system of CA. The case definition includes newborns with major structural CA, external or internal, identified from birth until hospital discharge and detected by physical examination, complementary studies, interventions or autopsy. All live newborns and stillbirths of 500 grams or more were included. The prevalence of CA at birth was calculated as the quotient between the number of live newborns and stillbirths with CA, and the total number of live newborns and stillbirths, for a given period. According to their presentation, the cases with specific CA were classified into isolated, multiple and syndromes. The prevalence at birth of major structural CA was 1.59% (95% confidence intervals 1.55-1.64). The most frequent specific anomalies were: cleft lip and palate, gastroschisis, hydrocephalus, talipes equinovarus, spina bifida, postaxial polydactyly, anorectal malformation, diaphragmatic hernia, renal cysts and esophageal atresia. The most frequent syndrome was Down's. The expected annual cases and the prevalence of selected specific CA were estimated. RENAC data are within values reported in the literature.

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis.

BACKGROUND: Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014. METHODS: This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends. RESULTS: The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010. CONCLUSION: The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604-611, 2016. © 2016 Wiley Periodicals, Inc.

Diprosopus: Systematic review and report of two cases.

BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. CONCLUSION: The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc.

Descriptive study on neural tube defects in Argentina.

BACKGROUND: Neural tube defects (NTDs) are the most common congenital anomalies of the central nervous system. Prevalence of NTDs varies depending on geographic region and folic acid fortification. The main objectives of this study are to analyze the prevalences of NTDs reported to the National Registry of Congenital Anomalies of Argentina (RENAC) during the period 2009 to 2013, to compare them with data from other selected surveillance systems of the Americas, and to evaluate the impact of folic acid fortification on the prevalence of NTDs in Argentina. METHODS: We analyzed changes in prevalence between 2009 and 2013 for the RENAC, and differences in prevalence between RENAC and other surveillance systems. We evaluated changes for the pre and postfortification time periods in Argentina. RESULTS: In Argentina, anencephaly and spina bifida showed no statistically significant variation between 2009 and 2013, and encephalocele showed a statistically significant decline. The RENAC showed a statistically significant higher prevalence for all three defects when compared with surveillance systems from Chile, Colombia, and Costa Rica, and a statistically significant lower birth prevalence than Cuba for anencephaly. No differences were observed when comparing it to the Atlanta-USA and Mexico systems. A significant decrease in prevalence was observed for all three anomalies for the postfortification period in Argentina. CONCLUSION: The characteristics of cases reported to the RENAC are similar to those already reported in the literature. The differences in prevalence between the RENAC and other surveillance systems could be artifactual or real. We confirmed the decrease of prevalence of NTDs after folic acid fortification.

Apert syndrome with omphalocele: a case report.

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

BACKGROUND: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population. METHODS: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe+ (includes Iran) , Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age. RESULTS: Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European+ prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European+ , four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic. CONCLUSIONS: Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.

Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.

Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level.

Birth prevalence of congenital anomalies (CA) in Argentina is estimated around 1.7%. CA are the second leading cause of infant mortality. Poverty and other adverse socioeconomic conditions have been associated with birth defects. To describe the prevalence at birth of CA, according to the two proxy variables of socioeconomic level: the health subsector of the hospital where the cases were born (PUB-public versus PRI-private or social security) and its geographical location. The design of the study was ecological using the data of the National Network of Congenital Anomalies of Argentina (RENAC); from October 2010 to December 2018. CA birth prevalence was estimated using the Poisson regression. We used a logistic regression model to analyze the association birth prevalence to health subsector and geographical region. A total of 2,202,994 births were examined in the study period, with a global CA prevalence of 1.69% (95% CI 1.68-1.71). The highest prevalence was observed in PUB hospitals when comparing to PRI hospitals at the country level and in all regions. There were differences in the prevalence of selected congenital anomalies with a statistically significant association to PUB (observed in anencephaly, encephalocele, hydrocephalus, microcephaly, holoprosencephaly, microtia/anotia, cleft lip and palate, postaxial polydactyly, talipes equinovarus, talipes calcaneovalgus, and gastroschisis). The prevalence of critical heart defects and chromosomal anomalies was significantly higher in PRI hospitals. Although this is an ecological study with no information on socioeconomic status at individual level, we found an association between CA frequency and selected CA with the PUB subsector. Vulnerable populations affected with CA require a greater effort from policy makers and health care providers to allocate more resources and design strategies to access to health.

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2.14%). The prevalence in PRI-N, PUB-N, PRI-S, and PUB-S hospitals were 1.59%, 1.91%, 2.20%, and 2.43%, respectively. Prevalence of neural tube defects, abdominal wall defects, and oral clefts was significantly higher in PUB than in PRI hospitals. Prevalence of critical heart defects was significantly lower in PUB-N and in PRI-S hospitals. Prevalence of anencephaly, encephalocele, hydrocephalus, microcephaly, gastroschisis, cleft lip and palate, ductus arteriosus, and bilateral renal agenesis was higher in PUB hospitals, both N and S, as well as microphthalmia/anophthalmia and ambiguous genitalia, spina bifida, anotia/microtia, postaxial polydactyly, and diaphragmatic hernia had higher prevalences in PUB-S hospitals. Omphalocele was more frequent in PUB-N hospitals. Results suggest that vulnerable populations in the public and southern subsectors of the city still require a greater support to reinforce resources and strategies that lead to greater equity in access to health.

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.

[Zika virus embryopathy in Argentina: clinical characteristics in newborns]. / Embriopatía por virus Zika en Argentina: características clínicas y diagnóstico en recién nacidos.

Introduction: Microcephaly and brain abnormalities may be due to multiple etiologies, one of them is the congenital infection by Zika virus (ZIKV). From 2016 to the present, there has been a series of ZIKV outbreaks in Argentina. Methods: National Network of Congenital Anomalies (RENAC) and the National Institute of Viral Diseases (INEVH), under the National Administration of Laboratories and Health Institutes "Carlos Malbrán" (ANLIS), carry out the intensified surveillance of newborns with microcephaly and brain abnormalities. This article presents the clinical characteristics and laboratory testof patients detected with congenital infection by ZIKV between April 2016 to March 2018, Results: 10 cases with embryopathy were detected, six autochthonous and four imported; in two cases, the mothers were asymptomatic during pregnancy; all the cases presented microcephaly and cranial facial disproportion, ventriculomegaly in seven cases and in six cerebral calcifications. The diagnosis of congenital infection by Zika in the newborn was made by antigen-specific Immunoglobulin M (MAC-ELISA) and plaque-reduction neutralization test (PRNT90 ). PCR was negative in all cases. Conclusion: the patients presented clinical features that were consistent with those reported in other countries. The need for serological studies that allow confirmation is emphasized, ruling out cross-reactivity with other Flaviviruses.

Introducción: La microcefalia y las anomalías cerebrales congénitas pueden deberse a múltiples etiologías, siendo uno de ellas la infección congénita por el virus Zika (ZIKV). Desde 2016 hasta hoy se han sucedido una serie de brotes del ZIKV en Argentina. Métodos: La Red Nacional de Anomalías Congénitas (RENAC) y el Instituto Nacional de Enfermedades Virales (INEVH), dependientes de la Administración Nacional de Laboratorios e Institutos de Salud "Carlos Malbrán" (ANLIS), realizan la vigilancia intensificada de recién nacidos con microcefalia y anomalías cerebrales. Este trabajo presenta las características clínicas y estudios de laboratorio de los pacientes con infección congénita por ZIKV detectados entre abril de 2016 a marzo 2018. Resultados: se detectaron 10 casos con embriopatía, seis fueron autóctonos y cuatro importados; en dos casos las madres fueron asintomática durante el embarazo; todos los casos presentaron microcefalia y desproporción cráneo facial, ventriculomegalia en siete casos y en seis calcificaciones cerebrales. El diagnóstico de infección congénita por Zika en el recién nacido se realizó por estudios serológicos inmunoglobulina M antígeno específica (MAC-ELISA) y prueba de neutralización por reducción de placas (PRNT90). La PCR fue negativa en todos los casos. Conclusión: Los pacientes presentaron características clínicas coincidentes con las reportadas en otros países Se enfatiza la necesidad de estudios serológicos que permitan la confirmación, descartando la reactividad cruzada con otros Flavivirus.

A proposal for the systematic assessment of data quality indicators in birth defects surveillance.

BACKGROUND: Quality control and improvement are a key part of the implementation of an effective surveillance program. Data quality indicators (DQI) are key tools but have not been widely used, especially in a low-resource setting. METHODS: We developed a list of data quality indicators of birth defects surveillance. These DQI address ascertainment, description, coding, and classification. RESULTS: We developed 40 DQI that can be used widely to assess the quality of data relative to birth defects of major clinical and public health impact. CONCLUSIONS: DQI have to be both comprehensive (e.g., assess all main surveillance processes) and practical (not require sophisticated or costly data elements), so that they can be used effectively in many different settings. We propose this list of DQI for use in surveillance program as a way to document the quality of the program; detect variations within and between programs, and support quality improvements.

Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.

BACKGROUND: In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital-based surveillance system of major structural birth defects. To assess and enhance the system's data quality, we previously developed data quality indicators (DQI). Our aim was to evaluate quality indicators in RENAC. METHODS: We applied the DQI presented in a related publication to the 2016 RENAC data. RESULTS: Among the DQI of description, spina bifida coverage and talipes had the lowest results. Regarding prevalence of hypospadias, it was lower than the defined threshold. RENAC did not achieve the ascertainment threshold of a prevalence of 21.5 per 10,000 for critical congenital heart defects. There was a high ratio of spina bifida to anencephaly. CONCLUSIONS: DQI provide a focus for improving quality, making decisions, and advocating for interventions. Examples include advocating for newborn screening of critical congenital heart defects with pulse oximetry; developing training programs for clinicians to improve the detection of isolated hypospadias; and developing visual tools and checklists to improve the completeness and accuracy of case description for spina bifida, talipes, and other major malformations. After the interventions, it is important to track the impact by measuring again the DQI.

Birth prevalence of Down syndrome in Argentina. / Prevalencia del síndrome de Down al nacimiento en Argentina.

The aim of this study was to describe the prevalence at birth of Down syndrome in Argentina. The prevalence by jurisdiction and maternal age was calculated for the 2009-2015 period and the prevalence and proportion of prenatal diagnosis was compared according to sub-sector (public and private) and complexity level of the maternity wards. The association of Down syndrome with birth weight and gestational age was analyzed. The data source was the National Network of Congenital Anomalies of Argentina [Red Nacional de Anomalías Congénitas] (RENAC). The prevalence was 17.26 per 10,000 births; by jurisdictions it varied between 10.99 and 23.71; and by maternal age, between 10.32 in women <20 years of age and 158.06 in those ≥45 years of age. In hospitals of the private subsector there was a higher prevalence, attributable to differences in the structure of maternal age, and a greater proportion of prenatal diagnosis. There was a negative correlation between birth weight and Down syndrome (ß=-294.7; p<0.001). No difference in the median gestational age at birth between Down syndrome newborns and newborns without major anomalies was found, but the distribution of gestational age differed. Knowledge of certain epidemiological characteristics of this health issue could contribute to the implementation of health policies.

El objetivo de este trabajo fue describir la prevalencia al nacimiento del síndrome de Down en Argentina. Se calculó la prevalencia por jurisdicción y edad materna para el período 2009-2015 y se comparó la prevalencia y proporción del diagnóstico prenatal según subsector (público y privado) y nivel de complejidad de las maternidades. Se analizó la asociación con el peso y la edad gestacional al nacer. La fuente de datos fue la Red Nacional de Anomalías Congénitas (RENAC). La prevalencia fue de 17,26 por cada 10.000 nacimientos; por jurisdicciones varió entre 10,99 y 23,71, y por edad materna entre 10,32 en <20 años y 158,06 en ≥45 años. En hospitales del subsector privado hubo una mayor proporción de diagnóstico prenatal y una mayor prevalencia, esta última atribuible a diferencias en la estructura de edad materna. Se observó una correlación negativa entre el peso al nacer y este síndrome (ß=-294,7; p<0,001). No se evidenció diferencia en la mediana de la edad gestacional al nacer entre recién nacidos con síndrome de Down y neonatos sin anomalías mayores, pero sí en la distribución de la edad gestacional. El conocimiento de ciertas características epidemiológicas podrá contribuir a la implementación de políticas de salud.

Bone dysplasias in 1.6 million births in Argentina.

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Cases were detected and registered according to a pre-established protocol, ranked in three diagnostic evidence levels according to available clinical documentation, and categorized according to the 9th edition of the nosology and classification of genetic skeletal disorders. Within our dataset, the most frequent groups were Group-1 (FGFR3, chondrodysplasia) and Group-25 (Osteogenesis Imperfecta and decreased bone density). Birth prevalence per 10,000 for the main OCD types, were: Achondroplasia 0.47 (95% CI: 0.38-0.59), Thanatophoric Dysplasia 0.37 (95% CI: 0.29-0.48), and the Osteogenesis Imperfecta group 0.34 (95% CI: 0.26-0.44). For total OCD, birth prevalence was 2.20 per 10.000 births (95% CI: 1.98-2.44). RENAC prevalence of total OCDs was found to be lower than that reported by the Latin-American Study of Congenital Malformations (ECLAMC) and Utah Birth Defect Network but higher than EUROCAT. Our investigation is the first study of OCD prevalence in Argentina using data from every jurisdiction of the country.

Birth defects surveillance: experiences in Argentina and Colombia.

Birth defects (BDs) are structural or functional anomalies, sporadic or hereditary, of prenatal origin. Public health surveillance is defined as the ongoing systematic collection, analysis, and interpretation of outcome-specific data for use in the planning, implementation, and evaluation of public health practice. BD surveillance systems may have different characteristics according to design, coverage, type of surveillance, case ascertainment, case definition, BD description, maximum age of diagnosis, pregnancy outcomes, coding systems, and the location of the coding process (central or local). The aim of this article is to describe and compare methodology, applications, and results of birth defect surveillance systems in two South-American countries: Colombia and Argentina. In both countries, the surveillance systems developed activities in relation to the Zika virus emergency. For most BDs, a statistically significant higher prevalence is observed in Argentina-RENAC than in Colombian registries. This may be due to methodological reasons or real differences in prevalence. The strengths, weaknesses, and the future perspectives of the Argentine and Colombian systems are presented. When developing a surveillance system, the objectives, the available resources, and previous experiences in similar contexts must be taken into account. In that sense, the experience of Argentina and Colombia can be useful for others when developing a birth defect surveillance system.

[Analysis on risk factors associated with birth defects in newborns in the area of the Matanza-Riachuelo river basin.] / Análisis de factores de riesgo asociados con anomalías congénitas en recién nacidos de la zona de la cuenca del río Matanza-Riachuelo.

Introducción: en la cuenca Matanza-Riachuelo viven aproximadamente 4.885.000 habitantes y es uno de los sitios más contaminados de Argentina. Este estudio evaluó factores de riesgo asociados a anomalías congénitas (AC) y bajo peso al nacimiento. Métodos: se realizó un estudio caso-control en tres hospitales de la cuenca pertenecientes la Red Nacional de Anomalías Congénitas (RENAC) durante un año. Se evaluó asociación de bajo peso y AC, con variables socioeconómicas; reproductivas; distancia de la vivienda durante la gestación a industrias y a cursos de agua. Resultados: la prevalencia de anomalías congénitas en recién nacidos fue de 1,93% (IC 95%: 1,64 - 2,25). Los factores de riesgo asociados a AC fueron enfermedades maternas agudas y consumo de medicamentos. Los casos presentaron peso y edad gestacional significativamente más bajos y mayor edad materna. No se encontró asociación entre bajo peso o prevalencia de AC con distancia de la vivienda durante el embarazo a industrias ni a los cursos de agua. Conclusión principal: este estudio es la primera investigación en el área de las AC con datos georreferenciados en nuestro país y ha mostrado la factibilidad de efectuar este tipo de investigaciones para evaluar factores de riesgo en la RENAC. Futuras investigaciones orientadas a evaluar AC específicas deberían realizarse a fin de corroborar los resultados del presente estudio.

Introducción: en la cuenca Matanza-Riachuelo viven aproximadamente 4.885.000 habitantes y es uno de los sitios más contaminados de Argentina. Este estudio evaluó factores de riesgo asociados a anomalías congénitas (AC) y bajo peso al nacimiento. Métodos: se realizó un estudio caso-control en tres hospitales de la cuenca pertenecientes la Red Nacional de Anomalías Congénitas (RENAC) durante un año. Se evaluó asociación de bajo peso y AC, con variables socioeconómicas; reproductivas; distancia de la vivienda durante la gestación a industrias y a cursos de agua. Resultados: la prevalencia de anomalías congénitas en recién nacidos fue de 1,93% (IC 95%: 1,64 - 2,25). Los factores de riesgo asociados a AC fueron enfermedades maternas agudas y consumo de medicamentos. Los casos presentaron peso y edad gestacional significativamente más bajos y mayor edad materna. No se encontró asociación entre bajo peso o prevalencia de AC con distancia de la vivienda durante el embarazo a industrias ni a los cursos de agua. Conclusión: este estudio es la primera investigación en el área de las AC con datos georreferenciados en nuestro país y ha mostrado la factibilidad de efectuar este tipo de investigaciones para evaluar factores de riesgo en la RENAC. Futuras investigaciones orientadas a evaluar AC específicas deberían realizarse a fin de corroborar los resultados del presente estudio.