Síndrome de Bartsocas-Papas y secuencia de bridas amnióticas: Semejanzas clínicas sugieren un factor etiopatogénico común / Bartsocas-Papas syndrome and amniotic bands sequence: Clinical similarities suggest a common etiopathogenic factor

Introducción: el síndrome de Bartsocas-Papas (SBP) es una entidad letal causada por una mutación homocigota del gen RIPK4, el cual, formando parte de una compleja red molecular, está involucrado en la diferenciación del queratinocito. Las principales manifestaciones del síndrome, parcialmente compartidas por otras displasias ectodérmicas monogénicas son: pterigium en miembros inferiores, fisuras faciales, defectos de reducción distal de miembros y apéndices cutáneos. Por otro lado, la secuencia de bridas amnióticas (SBA), de etiopatogenia desconocida, se caracteriza por un espectro variable de anomalías consideradas disruptivas, incluyendo fisuras faciales y defectos de reducción de miembros. Objetivo: describir los hallazgos clínicos y anatomopatológicos de un paciente con SBP y de otro con SBA, remarcando sus semejanzas. Casos clínicos: 1) Recién nacida con fisura facial, pterigium poplíteo y crural, reducción de dedos y ortejos, y apéndices cutáneos. Placenta con zonas desprovistas de epitelio amniótico. 2) Feto femenino de 27 semanas, fisura facial atípica, reducción distal de miembros, pterigium poplíteo, defecto de cierre de pared tóracoabdominal y polo cefálico, apéndices cutáneos y presencia de bridas amnióticas. Placenta y cordón umbilical con extensas zonas de desprendimiento del epitelio amniótico. Conclusiones: algunos hallazgos similares en el SBP y la SBA permitirían especular acerca de la existencia de un factor intrínseco, relacionado al desarrollo de la piel, y común a ambas entidades.

Introduction: Bartsocas-Papas syndrome (BPS) is a lethal condition caused by a homozygous mutation of the RIPK4 gene, which, being part of a complex molecular network, is involved in keratinocyte differentiation while. The main clinical manifestations are webbing of lower limbs, facial clefts, distal limb reduction defects, and skin tags, and some of these are shared with other monogenic ectodermal dysplasia syndromes. Similarly, amniotic bands sequence (ABS), a condition of unknown etiopathogenesis, is characterized by a variable spectrum of anomalies considered as disruptive, such as facial clefts and limb reduction defects. Objective: to describe clinical and autopsy findings of a patient with BPS and of a fetus with ABS, emphasizing on their similarities. Case reports: 1. Female liveborn with atypical facial clefts, popliteal and crural webbing, distal reduction defects of hands and feet, and multiple skin tags. The placenta showed regions lacking amniotic epithelium. 2. Female fetus of 27 gestational weeks, atypical facial clefts, distal limb reduction defects, popliteal webbing, thoracoabdominal and cephalic closure defects, skin tags, and amniotic bands. Placenta and umbilical cord showed broad regions lacking amniotic epithelium attachment. Conclusions: the observation of a number of findings with remarkable similarities between BPS and ABS allows considering the existence of an intrinsic factor, involved in skin development which is common to both conditions.

Placental Growth Measures in Relation to Birth Weight in a Latin American Population.

Introduction The placenta, translates how the fetus experiences the maternal environment and is a principal influence on birth weight (BW). Objective To explore the relationship between placental growth measures (PGMs) and BW in a public maternity hospital. Methods Observational retrospective study of 870 singleton live born infants at Hospital Maternidad Sardá, Universidad de Buenos Aires, Argentina, between January 2011 and August 2012 with complete data of PGMs. Details of history, clinical and obstetrical maternal data, labor and delivery and neonatal outcome data, including placental measures derived from the records, were evaluated. The following manual measurements of the placenta according to standard methods were performed: placental weight (PW, g), larger and smaller diameters (cm), eccentricity, width (cm), shape, area (cm(2)), BW/PW ratio (BPR) and PW/BW ratio (PBR), and efficiency. Associations between BW and PGMs were examined using multiple linear regression. Results Birth weight was correlated with placental weight (R(2) = 0.49, p < 0.001), whereas gestational age was moderately correlated with placental weight (R(2) = 0.64, p < 0.001). By gestational age, there was a positive trend for PW and BPR, but an inverse relationship with PBR (p < 0.001). Placental weight alone accounted for 49% of birth weight variability (p < 0,001), whereas all PGMs accounted for 52% (p < 0,001). Combined, PGMs, maternal characteristics (parity, pre-eclampsia, tobacco use), gestational age and gender explained 77.8% of BW variations (p < 0,001). Among preterm births, 59% of BW variances were accounted for by PGMs, compared with 44% at term. All placental measures except BPR were consistently higher in females than in males, which was also not significant. Indices of placental efficiency showed weakly clinical relevance. Conclusions Reliable measures of placental growth estimate 53.6% of BW variances and project this outcome to a greater degree in preterm births than at term. These findings would contribute to the understanding of the maternal-placental programming of chronic diseases.

Placental Growth Measures in Relation to Birth Weight in a Latin American Population / Medidas de crescimento placentário em relação ao peso de nascimento em uma população latino-americana

Abstract Introduction The placenta, translates how the fetus experiences the maternal environment and is a principal influence on birth weight (BW). Objective To explore the relationship between placental growth measures (PGMs) and BW in a public maternity hospital. Methods Observational retrospective study of 870 singleton live born infants at Hospital Maternidad Sardá, Universidad de Buenos Aires, Argentina, between January 2011 and August 2012 with complete data of PGMs. Details of history, clinical and obstetrical maternal data, labor and delivery and neonatal outcome data, including placental measures derived from the records, were evaluated. The following manual measurements of the placenta according to standard methods were performed: placental weight (PW, g), larger and smaller diameters (cm), eccentricity, width (cm), shape, area (cm2), BW/PW ratio (BPR) and PW/BW ratio (PBR), and efficiency. Associations between BW and PGMs were examined using multiple linear regression. Results Birth weight was correlated with placental weight (R2 =0.49, p < 0.001), whereas gestational age was moderately correlated with placental weight (R2 =0.64, p < 0.001). By gestational age, there was a positive trend for PW and BPR, but an inverse relationship with PBR (p < 0.001). Placental weight alone accounted for 49% of birth weight variability (p < 0,001), whereas all PGMs accounted for 52% (p < 0,001). Combined, PGMs, maternal characteristics (parity, pre-eclampsia, tobacco use), gestational age and gender explained 77.8% of BW variations (p < 0,001). Among preterm births, 59% of BW variances were accounted for by PGMs, compared with 44% at term. All placental measures except BPR were consistently higher in females than in males, which was also not significant. Indices of placental efficiency showed weakly clinical relevance. Conclusions Reliable measures of placental growth estimate 53.6% of BW variances and project this outcome to a greater degree in preterm births than at term. These findings would contribute to the understanding of the maternal-placental programming of chronic diseases.

Resumo Introdução Aplacenta traduz como o feto experimenta o ambientematerno, alémde ser a principal influência sobre o peso ao nascer (PN). Objetivo Explorar a relação entre medidas de crescimento da placenta (MCPs) e PN em uma maternidade pública. Métodos Estudo retrospectivo observacional de 870 recém-nascidos vivos únicos na Maternidade Sardá, Universidade de Buenos Aires, Argentina, entre janeiro de 2011 e agosto de 2012 com os dados completos das MCPs. Foram avaliados dados da história clínica e obstétricamaterna, trabalho de parto e resultados neonatais, incluindomedidas da placenta derivadas dos registrosmédicos. Foramrealizadas as seguintesmediçõesmanuais da placenta: peso da placenta (PP, g), diâmetros maior e menor (cm), excentricidade, espessura (cm), forma, área (cm2), razões PN/PP e PP/PN e eficiência. Associações entre PN e MCPs foram examinadas por meio de regressão linear múltipla. Resultados Peso ao nascer foi correlacionado com peso placentário (R2 = 0,49, p < 0,001), enquanto idade gestacional foi moderadamente correlacionada com peso placentário (R2 = 0,64, p < 0,001). Por idade gestacional, houve uma tendência positiva para a relação PP e PN/PP, mas uma relação inversa com a razão PP/PN (p < 0,001). Somente peso da placenta respondeu por 49% da variabilidade do peso ao nascer (p < 0,001), ao passo que todas as MCPs foram responsáveis por 52% (p < 0,001). Combinados, MCPs, características maternas (paridade, pré-eclâmpsia, fumo), idade gestacional e sexo explicaram 77,8% da variação do peso ao nascer (p < 0,001). Entre nascimentos pré-termo, 59% da variância do PN foi contabilizada pelas MCPs, emcomparação com44% a termo. Todas asmedidas placentárias, exceto a razão PN/PP, foram consistentemente maiores em mulheres do que em homens, mas não significativas. Índices de eficiência placentária mostraram fraca relevância clínica. Conclusões medidas confiáveis de crescimento placentário estimam 53,6% da variância do peso ao nascer, e projetamesse resultado a ummaior grau emnascimentos pré-termo do que a termo. Estes resultados contribuiriam para a compreensão da programação materno-placentária de doenças crónicas.

Gastroschisis is a defect of the umbilical ring: evidence from morphological evaluation of stillborn fetuses.

BACKGROUND: Gastroschisis (GS) is usually described as an abdominal wall defect, to the right of a normally inserted umbilical cord, without membraneous covering of the extruded organs. However, precise anatomical descriptions are lacking in the literature. Our aims were to provide evidence that allows reconsideration of its current definition, as well as an explanation for prenatal death, based on detailed observation of stillborn fetuses with GS and a review of the literature. METHODS: Prenatal studies, clinical examinations, and histological findings of five stillborn fetuses with isolated GS are described and photographic evidence is provided. RESULTS: In all five cases, the umbilical cord was only attached to the left side of the umbilical ring, while the right side remained uncovered, allowing evisceration of abdominal organs. Histological evidence of mucoid-like tissue at the free border of the ring suggests that at that site the cord was initially inserted and later detached. Characteristics of the umbilical ring, bowel dilatation, and autopsy findings of acute asphyxia strongly support compression of umbilical vessels as the cause of fetal death. CONCLUSIONS: Based on these findings, on the lack of evidence in the literature demonstrating full-thickness abdominal wall separating the defect from the umbilical cord, and on a critical review of the proposed mechanisms favoring the hypothesis of a defect separate from the umbilical ring, we propose that GS represents a failure in the normal attachment between umbilical cord and umbilical ring. The consistent clinical course of fetuses with prenatal demise suggests careful targeted monitoring during late gestation.

[The relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants]. / Asociación entre lesiones placentarias y lesiones isquémico hemorrágicas cerebrales precoces detectadas por ecografía en prematuros menores de 1500 gramos y 32 semanas.

INTRODUCTION: The histopathological features of the placenta are central for screening a lot of pregnancy related disorders associated to hemorrhagic-ischemic cerebral injury in preterm infants that can jeopardize his long term neurodevelopment. The objective of this study was to examine the relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants (VLBW). METHODS: This is a case-control study of VLBW born at Sardá Maternity Hospital, Buenos Aires, between 2006 and 2012. Inclusion criteria's were gestational age ≥ 24 and ≤ 32 weeks and birth weight between 500 g and 1500 g, Exclusion criteria's were multiple pregnancy, congenital anomalies, intrauterine infections and mortality before 24 hours of life. RESULTS: 198 VLBW were included, 49 cases and 149 controls. There was no significant difference in the incidence of histopathological lesions between the groups, although inflammatory placental lesions predominated in cases (67,3%) compared with controls (48%, p= 0.018). Intraventricular hemorrhage was the most common injury. On bivariate analysis inflammation was the only placenta lesion associated with early hemorrhagic-ischemic cerebral injury (OR 7.0, 95% CI 1.54 - 31.71) whereas the risk of severe hemorrhagic-ischemic cerebral injury was twofold greater in the presence of inflammation (p= 0.20). After adjusting for perinatal variables, placental lesions were not independently associated with increased risk of hemorrhagic-ischemic cerebral injury. There was a trend towards lesser risk of hemorrhagic-ischemic cerebral injury with increasing gestational age. CONCLUSION: Placental injuries were not independently associated with hemorrhagic-ischemic cerebral injury within 72 hours of life, although inflammation showed a clear predominance un cases.

Introducción: El examen histopatológico de la placenta es trascendente para evidenciar desordenes relacionados con el embarazo que se asocian a lesiones isquémico hemorrágicas cerebrales (LIHC) en recién nacidos prematuros (RNPT). Objetivo: Estudiar la asociación entre lesiones placentarias y LIHC precoces detectadas con ecografía en RNPT ≤ 1500 g y 32 semanas. Material y Métodos: diseño caso ­ control. Criterios de inclusión: RNPT ≥ 24 y ≤ 32 semanas, ≥ 500 y ≤ 1500 g, nacidos en la Maternidad Sardá entre años 2006 y 2012. Criterios de exclusión: RNPT gemelares, con malformaciones o infecciones intrauterinas específicas y los fallecidos antes de las 24 horas de vida. Resultados: fueron incluidos 198 RNPT, 49 con LIHC (casos) y 149 sin LIHC (controles). No se encontraron diferencias en las lesiones histopatológicas placentarias entre los dos grupos, aunque se apreció una clara tendencia de lesiones inflamatorias en los casos (67.3%) en comparación con los controles (48 %, p = 0.018). La ruptura prematura de las membranas (p = 0.027) y la corioamnionitis clínica fueron más frecuentes en los casos. Complicaciones fuertemente asociadas a prematurez fueron estadísticamente más evidentes entre los casos. La hemorragia intraventricular fue la lesión cerebral más hallada. El 50% de los casos persistieron con LIHC a las 36-40 semanas, mientras que a mayor edad gestacional el riesgo de LIHC fue menor . Conclusiones: las lesiones histopatológicas placentarias no estuvieron asociadas independientemente a mayor riesgo de LIHC, aunque se observó un predominio de lesiones inflamatorias en los casos.

Asociación entre lesiones placentarias y lesiones isquémico hemorrágicas cerebrales precoces detectadas por ecografía en prematuros menores de 1500 gramos y 32 semanas / [The relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants].

INTRODUCTION: The histopathological features of the placenta are central for screening a lot of pregnancy related disorders associated to hemorrhagic-ischemic cerebral injury in preterm infants that can jeopardize his long term neurodevelopment. The objective of this study was to examine the relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants (VLBW). METHODS: This is a case-control study of VLBW born at Sardá Maternity Hospital, Buenos Aires, between 2006 and 2012. Inclusion criteria’s were gestational age ÔëÑ 24 and Ôëñ 32 weeks and birth weight between 500 g and 1500 g, Exclusion criteria’s were multiple pregnancy, congenital anomalies, intrauterine infections and mortality before 24 hours of life. RESULTS: 198 VLBW were included, 49 cases and 149 controls. There was no significant difference in the incidence of histopathological lesions between the groups, although inflammatory placental lesions predominated in cases (67,3

) compared with controls (48

, p= 0.018). Intraventricular hemorrhage was the most common injury. On bivariate analysis inflammation was the only placenta lesion associated with early hemorrhagic-ischemic cerebral injury (OR 7.0, 95

CI 1.54 - 31.71) whereas the risk of severe hemorrhagic-ischemic cerebral injury was twofold greater in the presence of inflammation (p= 0.20). After adjusting for perinatal variables, placental lesions were not independently associated with increased risk of hemorrhagic-ischemic cerebral injury. There was a trend towards lesser risk of hemorrhagic-ischemic cerebral injury with increasing gestational age. CONCLUSION: Placental injuries were not independently associated with hemorrhagic-ischemic cerebral injury within 72 hours of life, although inflammation showed a clear predominance un cases.

Asociación entre lesiones placentarias y lesiones isquémico hemorrágicas cerebrales precoces detectadas por ecografía en prematuros menores de 1500 gramos y 32 semanas. / [The relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants].

INTRODUCTION: The histopathological features of the placenta are central for screening a lot of pregnancy related disorders associated to hemorrhagic-ischemic cerebral injury in preterm infants that can jeopardize his long term neurodevelopment. The objective of this study was to examine the relationship between placental lesions and early hemorrhagic-ischemic cerebral injury in very low birth weight infants (VLBW). METHODS: This is a case-control study of VLBW born at Sardá Maternity Hospital, Buenos Aires, between 2006 and 2012. Inclusion criterias were gestational age ÔëÑ 24 and Ôëñ 32 weeks and birth weight between 500 g and 1500 g, Exclusion criterias were multiple pregnancy, congenital anomalies, intrauterine infections and mortality before 24 hours of life. RESULTS: 198 VLBW were included, 49 cases and 149 controls. There was no significant difference in the incidence of histopathological lesions between the groups, although inflammatory placental lesions predominated in cases (67,3

) compared with controls (48

, p= 0.018). Intraventricular hemorrhage was the most common injury. On bivariate analysis inflammation was the only placenta lesion associated with early hemorrhagic-ischemic cerebral injury (OR 7.0, 95

CI 1.54 - 31.71) whereas the risk of severe hemorrhagic-ischemic cerebral injury was twofold greater in the presence of inflammation (p= 0.20). After adjusting for perinatal variables, placental lesions were not independently associated with increased risk of hemorrhagic-ischemic cerebral injury. There was a trend towards lesser risk of hemorrhagic-ischemic cerebral injury with increasing gestational age. CONCLUSION: Placental injuries were not independently associated with hemorrhagic-ischemic cerebral injury within 72 hours of life, although inflammation showed a clear predominance un cases.

Acephaly: further evidence for disruption but not for amniotic bands.

Complete absence of the fetal head in singleton pregnancies is a very rare defect; to our knowledge there are only 7 reported cases. Decapitation by amniotic bands has been considered as the most probable cause. However, in none of the described cases except one were amniotic bands, constriction rings, or other related findings observed, raising the possibility that mechanisms other than amputation by amniotic bands are involved. We present a further case of acephaly and discuss the role of amniotic bands and alternative mechanisms of decapitation and a possible sequence of events leading to acephaly.

Medidas del crecimiento placentario y su relación con el peso de nacimiento y la edad gestacional. Revisión bibliográfica / Placental growth measures and their relation to birth weight and gestational age. Literature review

El peso de nacimiento es un indicador crudo de la nutrición fetal. Las funciones placentarias de transporte, metabolismo y endócrinas son los mayores determinantes de la nutrición fetal y homeostasis, pero la eficiencia placentaria está escasamente relacionada con el peso del órgano. El peso placentario y las principales medidas placentarias (PMP) (diámetros mayor y menor, espesor del disco, distancia de la inserción del cordón umbilical [CU], forma y longitud del CU) son rutinariamente recolectadas en los laboratorios de patología de todo el mundo y son útiles para capturar: a) su relación con la función placentaria, y, b) están convencionalmente consideradas de tener ôperíodos críticosö de desarrollo. El tamaño y la forma de la superficie placentaria son nuevos marcadores epidemiológicos para enfermedades crónicas no transmisibles, en especial la hipertensión arterial. En el presente estudio se presenta una revisión bibliográfica sobre la relación entre las principales medidas placentarias con la edad gestacional y el peso de nacimiento. (AU)

Medidas del crecimiento placentario y su relación con el peso de nacimiento y la edad gestacional. Revisión bibliográfica / Placental growth measures and their relation to birth weight and gestational age. Literature review

El peso de nacimiento es un indicador crudo de la nutrición fetal. Las funciones placentarias de transporte, metabolismo y endócrinas son los mayores determinantes de la nutrición fetal y homeostasis, pero la eficiencia placentaria está escasamente relacionada con el peso del órgano. El peso placentario y las principales medidas placentarias (PMP) (diámetros mayor y menor, espesor del disco, distancia de la inserción del cordón umbilical [CU], forma y longitud del CU) son rutinariamente recolectadas en los laboratorios de patología de todo el mundo y son útiles para capturar: a) su relación con la función placentaria, y, b) están convencionalmente consideradas de tener “períodos críticos” de desarrollo. El tamaño y la forma de la superficie placentaria son nuevos marcadores epidemiológicos para enfermedades crónicas no transmisibles, en especial la hipertensión arterial. En el presente estudio se presenta una revisión bibliográfica sobre la relación entre las principales medidas placentarias con la edad gestacional y el peso de nacimiento.

Single umbilical artery and associated malformations in over 5500 autopsies: relevance for perinatal management.

With a birth prevalence rate of about 1%, single umbilical artery (SUA) is the most frequent of all congenital anomalies. It is recognizably associated with a variety of birth defects, but disagreement exists as to whether a SUA can predict an adverse perinatal outcome; disagreement also exists related to if, when present, other birth defects should be ruled out. The aims of the study were to estimate the association between SUA and other birth defects in a series of perinatal autopsies, to establish if preferential associations between SUA and certain birth defects exist, and to quantify the risks for other birth defects when a SUA is diagnosed. In a series of 5539 perinatal autopsies conducted at the Hospital Materno Infantil Ramón Sardá and the Private Laboratory of Perinatal Pathology, Buenos Aires, Argentina, the rate of each malformation (grouped by organ/system) associated with SUA and the risks of associated malformations were estimated. In this series of autopsies, the rate of SUA showed a 10-fold increase when other malformations were present. The risk for other malformations increased significantly, by a 3-fold to 9-fold measure, when a SUA was present. Urinary and gut anomalies showed a preferential association with SUA. The absence of other birth defects lowered the risk of chromosome anomalies associated with SUA in 56% (odds ratio  =  0.44). These results, obtained from a series of perinatal autopsies, are in agreement with most observations found in the literature, namely, high association rates between SUA and urinary and cardiovascular anomalies as well as a low risk for chromosome anomalies in SUA cases without other malformations.

Arteria umbilical única y malformaciones asociadas en una serie de 5500 autopsias: implicancia en conductas perinatales / Single umbilical artery and associated malformations in a series of 5500 autopsies: implication in perinatal conducts

Con una incidencia del 1% de nacimientos, la arteria umbilical única (AUU) es, de todos los defectos congénitos, el más frecuente. Se asocia reconocidamente a una variedad de malformaciones pero existen controversias acerca de su condición de predictora de un resultado perinatal adverso y de constituir una indicación para descartar otras malformaciones. Objetivos: establecer las frecuencias de malformaciones asociadas a AUU, determinar si existen asociaciones preferenciales y cuantificar el riesgo de otras malformaciones en presencia de AUU en una serie de autopsias perinatales. Material y métodos: en 5.539 autopsias del Hospital Materno Infantil Ramón Sardá y del Laboratorio Privado de Patología Perinatal se calculó la frecuencia de cada malformación (agrupadas por aparato) asociada a la AUU y los riesgos de malformaciones asociadas. Se estableció el riesgo para anomalías cromosómicas en casos con AUU sin otras malformaciones asociadas. Resultados: la AUU fue 10 veces más frecuente en presencia de otras malformaciones. El riesgo para malformaciones se incrementó significativamente entre tres y nueve veces en presencia de AUU. Las anomalías renales y digestivas mostraron una asociación preferencial con la AUU. En ausencia de otras malformaciones agregadas, la AUU presentó un bajo riesgo para anomalías cromosómicas. Conclusiones: el diagnóstico de AUU es indicación para realizar un exhaustivo monitoreo fetal y para descartar anomalías renales y cardiovasculares. No sería indicación para realizar un estudio cromosómico fetal si no se detectan otras malformaciones.(AU)

With a birth prevalence rate of about 1%, single umbilical artery (SUA) is the most frequent congenital anomaly. It recognizably associates with a variety of birth defects but its ability to predict an adverse perinatal outcome is unclear, as well as if other malformations should be ruled out when a SUA is diagnosed. Aims: to estimate the association between SUA and other birth defects in a series of perinatal autopsies, to establish if preferential associations between SUA and certain birth defects exist, and to quantify the risks for other birth defects when a SUA is diagnosed. Material and methods: in a series of 5.539 perinatal autopsies, from the Hospital Materno Infantil Ramón Sardá and the Private Laboratory of Perinatal Pathology, Buenos Aires, the rate of each malformation (grouped by organ/system) associated with SUA and the risks of associated malformations were estimated. Results: the rate of SUA showed a 10-fold increase when other malformations were present. The risk for other malformations increased significantly, from 3 to 9-fold, when a SUA was present. Urinary and gut anomalies showed a preferential association with SUA. The absence of other birth defects lowered the risk of SUA for chromosome anomalies in almost 60 per cent. Conclusions: prenatal diagnosis of SUA should lead to an exhaustive fetal monitoring, and urinary and cardiovascular defects should be ruled out. The diagnosis of a SUA is not an indication for a fetal chromosome analysis, if no other malformations are present.(AU)

Arteria umbilical única y malformaciones asociadas en una serie de 5500 autopsias: implicancia en conductas perinatales / Single umbilical artery and associated malformations in a series of 5500 autopsies: implication in perinatal conducts

Con una incidencia del 1% de nacimientos, la arteria umbilical única (AUU) es, de todos los defectos congénitos, el más frecuente. Se asocia reconocidamente a una variedad de malformaciones pero existen controversias acerca de su condición de predictora de un resultado perinatal adverso y de constituir una indicación para descartar otras malformaciones. Objetivos: establecer las frecuencias de malformaciones asociadas a AUU, determinar si existen asociaciones preferenciales y cuantificar el riesgo de otras malformaciones en presencia de AUU en una serie de autopsias perinatales. Material y métodos: en 5.539 autopsias del Hospital Materno Infantil Ramón Sardá y del Laboratorio Privado de Patología Perinatal se calculó la frecuencia de cada malformación (agrupadas por aparato) asociada a la AUU y los riesgos de malformaciones asociadas. Se estableció el riesgo para anomalías cromosómicas en casos con AUU sin otras malformaciones asociadas. Resultados: la AUU fue 10 veces más frecuente en presencia de otras malformaciones. El riesgo para malformaciones se incrementó significativamente entre tres y nueve veces en presencia de AUU. Las anomalías renales y digestivas mostraron una asociación preferencial con la AUU. En ausencia de otras malformaciones agregadas, la AUU presentó un bajo riesgo para anomalías cromosómicas. Conclusiones: el diagnóstico de AUU es indicación para realizar un exhaustivo monitoreo fetal y para descartar anomalías renales y cardiovasculares. No sería indicación para realizar un estudio cromosómico fetal si no se detectan otras malformaciones.

With a birth prevalence rate of about 1%, single umbilical artery (SUA) is the most frequent congenital anomaly. It recognizably associates with a variety of birth defects but its ability to predict an adverse perinatal outcome is unclear, as well as if other malformations should be ruled out when a SUA is diagnosed. Aims: to estimate the association between SUA and other birth defects in a series of perinatal autopsies, to establish if preferential associations between SUA and certain birth defects exist, and to quantify the risks for other birth defects when a SUA is diagnosed. Material and methods: in a series of 5.539 perinatal autopsies, from the Hospital Materno Infantil Ramón Sardá and the Private Laboratory of Perinatal Pathology, Buenos Aires, the rate of each malformation (grouped by organ/system) associated with SUA and the risks of associated malformations were estimated. Results: the rate of SUA showed a 10-fold increase when other malformations were present. The risk for other malformations increased significantly, from 3 to 9-fold, when a SUA was present. Urinary and gut anomalies showed a preferential association with SUA. The absence of other birth defects lowered the risk of SUA for chromosome anomalies in almost 60 per cent. Conclusions: prenatal diagnosis of SUA should lead to an exhaustive fetal monitoring, and urinary and cardiovascular defects should be ruled out. The diagnosis of a SUA is not an indication for a fetal chromosome analysis, if no other malformations are present.

Second-trimester histopathological placental findings in maternal-fetal inflammatory response syndrome.

Immature delivery is frequently associated with a maternal-fetal inflammatory response at the placental level. The aims of this study were to determine the prevalence, staging, and grading of histological findings (associated with acute maternal-fetal inflammatory response syndrome) in placentas of immature fetuses and to establish the relationship between maternal and fetal responses and its frequency distribution by fetal weight. The studied placentas corresponded to fetuses with weights ranging between 12 g and 625 g. The inflammatory response was classified according to the criteria published by the Perinatal Section of the Society for Pediatric Pathology. Of the 354 placentas analyzed, 231 (65.3%) showed acute inflammatory response. In 98.7% of the cases, inflammation was classified as maternal inflammatory response (MIR) and in 49.8% as fetal inflammatory response (FIR). In 49.1% of the cases, MIR was accompanied by FIR, whereas only 3 cases of FIR did not show MIR. As their stages increased, fetal response rates and the severity of MIR and FIR grew at higher stages of maternal response. Although the frequency of MIR was similar in different fetal weight groups, that of FIR increased with weight and gestational age.

Patterns of severe abdominal wall defects: insights into pathogenesis, delineation, and nomenclature.

BACKGROUND: During the last decade, descriptions of malformation complexes involving an abdominal wall defect (AWD) have repeatedly appeared in the literature, and there has been frequent confusion regarding nomenclature, definitions, and delineations. The aims of this work were to evaluate possible embryological relationships among AWD cases, review the related nomenclature, identify patterns involving AWDs, and stress the importance of complete clinical descriptions. METHODS Cases diagnosed as AWD complexes were selected from live--and stillborn infants of the Hospital Materno Infantil Ramón Sardá, Buenos Aires, and from the Laboratory of Perinatal Pathology, Buenos Aires, Argentina. They were sorted by the location of the AWD, the umbilical cord length, and the presence or absence of a persistent cloaca. The findings in 26 cases were described, according to proposed definitions. RESULTS: Three patterns could be identified: 1) the AWD involving the umbilical ring, a persistent or exstrophic cloaca, and a spinal cord anomaly; 2) the AWD extending laterally to the umbilical ring, severe unilateral limb defects, and same-sided agenesis of abdominal organs; and 3) the AWD not involving the umbilical ring, clefts, exencephaly, and amputations. Furthermore, overlapping among these patterns was observed, and possible involved mechanisms are discussed. CONCLUSIONS: The observed overlapping among patterns suggested that malformation complexes involving AWDs might not be independent conditions but rather belong to a common and broader spectrum of anomalies. Complete clinical descriptions, the avoidance of synonyms and generalizations, and strictly defined inclusion criteria are proposed for a better understanding of pathogenetic pathways in, and relationships among, AWD complexes.

Patologías placentarias y lesiones de la sustancia blanca cerebral detectadas por ultrasonografía en recién nacidos prematuros de muy bajo peso dentro de las 72 hs de vida / Placental pathologies and cerebral white matter injuries detected by ultrasonography in very low birth weight infant within the 72 hours of life

Las lesiones de la sustancia blanca cerebral como la leucomalacia periventricular (LPV), el infarto hemorrágicoperiventricular (IHP), la ventriculomegalia (VMG) y las ecodensidades periventriculares (EDPV) son la causa más frecuente de alteraciones en el neurodesarrollo y de parálisis cerebral (PC) en recién nacidos prematuros menores a 1.500 g de peso al nacer. La patogénesis de estas lesiones es compleja y multifactorial: hipoxia, isquemia, infección, citoquinas y radicales libres están implicados en la misma. Las formas severas de las lesiones de la sustancia blanca cerebral (LSBC) pueden ser detectadas por ultrasonografía cerebral. Los factores de riesgo que precipitan la injuria cerebral pueden tener un origen antenatal, periparto o postnatal. Múltiples estudios relacionan la patología placentaria con las lesiones de la sustancia blanca cerebral, por lo tanto el estudio ecográfico cerebral y anatomopatológico de la placenta durante la primer semana de vida del recién nacido, orientará al origen prenatal de las mismas. La presencia de lesiones del SNC no se deben solamente a la infección ovular inespecífica, sino que además existirían otros factores adicionales, ya sea placentarios o fetales. La sumatoria de los mismos jugaría un rol fundamental en la génesis de estas severas lesiones del cerebro en desarrollo, por lo tanto evaluaremos en forma amplia las patologías placentarias macro y microscópicamente. Objetivo: Describir en nuestra población de recién nacidos pretérminos (RNPT) la presencia y tipo de lesiones anatomopatológicas (infecciosas, vasculares, inmunológicas, etc.), y simultáneamente describir las lesiones de la sustancia blanca cerebral detectadas por ultrasonografía dentro de las 72 horas de vida. Material y métodos. Diseño: Observacional, descriptivo y prospectivo. Población: Se incluyeron todos los RNPT de ≤32 semanas de edad gestacional y peso de nacimiento entre 500 g y 1.500 gramos nacidos en el Hospital Materno Infantil Ramón Sardá de la Ciudad Autónoma de Buenos Aires entre el 01/04/03 y el 08/05/04 (15 meses). Se excluyeron los recién nacidos que presentaron anomalías del desarrollo del sistema nervioso central al nacimiento, con infecciones intrauterinas específicas y los fallecidos en sala de partos. Métodos: A todos los RNPT se les realizó una ecografía cerebral con un transductor sectorial de 7,5 Mhz dentro de las 72 hs de vida...(AU)