ABSTRACT
Introduction: To date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers-Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS. Case report: We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in COL3A1. This male patient reported transient focal neurologic symptoms. Physical examination showed abnormal atrophic scarring, horizontal stretch marks under the arms, and an acrogeric appearance of the skin of the hands and feet. Brain imaging revealed extensive dilation of both internal carotids and the vertebrobasilar system. Molecular analysis identified a variant in COL3A1 (NM_000090.4):c.3058G>T p.(Gly1020Cys), which was classified as likely pathogenic. Currently, the patient has never had an event concerning dissection/rupture of tissues that could be affected in this condition. Conclusion: This report demonstrates that exhaustive evaluation with clinical and genetic approaches should be considered in patients with vascular abnormalities. vEDS has a variable clinical presentation and often goes unrecognized, even though it is related to life-threatening complications and a shortened life expectancy. Diagnosis confirmed by genetic testing is crucial to determining appropriate surveillance, prevention, treatment, and genetic counseling.
Subject(s)
Humans , Female , Pregnancy , Placenta Accreta/surgery , Placenta Accreta/psychology , Stress Disorders, Post-TraumaticABSTRACT
Objectives: To describe the frequency of maternal complications in pregnant women with major or minor placenta previa (PP), and to assess a potential association between PP type and the presence of severe maternal bleeding and other associated outcomes. Materials and methods: Retrospective descriptive cohort. The study included pregnant women with 20 weeks of gestation or more and a confirmed diagnosis of placenta previa who were seen in a high complexity hospital in Cali (Colombia), between January 2011 and December 2020. Women with a diagnosis of placenta previa and concomitant placenta accreta were excluded. The collected variables were maternal age, body mass index, smoking, obesity, parity, presence of bleeding, postpartum hemorrhage, management of postpartum hemorrhage, transfusion, and maternal ICU admission. A descriptive analysis was performed. The protocol was approved by the ethics committee of Fundaciónn Valle de Lili. Results: A total of 146 patients met the inclusion criteria. The population consisted of women with a mean age of 32 years, with no history of prior surgery, with a prenatal diagnosis of placente previa at week 22; 70 % were major placenta previa cases. The most frequent complications were postpartum hemorrhage (37.9 % vs. 16.3 % for patients with major and minor placenta previa, respectively), transfusion requirement (23.3 and 9.3 %, respectively), and maternal ICU admission (40.8 % vs. 18.6 %, respectively). There were no cases of maternal death. Conclusions: There is a high frequency of complications in women with placenta previa, and it is probably higher in cases of major placenta previa. Further studies are needed to compare the frequency of maternal complications according to the type of placenta previa.
Objetivos: describir la frecuencia de complicaciones maternas en mujeres gestantes con placenta previa (PP) mayor o menor y evaluar una posible asociación entre tipo de PP y la presencia de hemorragia materna severa y otros resultados maternos asociados. Materiales y métodos: cohorte retrospectiva, descriptiva. Se incluyeron gestantes con 20 semanas o más de embarazo, con diagnóstico confirmado de placenta previa, quienes fueron atendidas en un hospital de alto nivel de complejidad localizado en Cali (Colombia), entre enero de 2011 y diciembre de 2020. Se excluyeron las gestantes con diagnóstico de placenta previa y acretismo placentario concomitante. Las variables recolectadas fueron: edad materna, índice de masa corporal, tabaquismo, obesidad, paridad, presencia de sangrado, hemorragia posparto, manejo de la hemorragia posparto, transfusión y admisión a UCI de la gestante. Se realizó análisis descriptivo. El protocolo fue aprobado por el comité de ética de la Fundación Valle de Lili. Resultados: 146 pacientes cumplieron con los criterios de inclusión. La población estuvo constituida por mujeres con una mediana de edad de 32 años, sin antecedente quirúrgico, con diagnóstico prenatal de placenta previa a la semana 22. En el 70,5 % de los casos se trató de pacientes con placenta previa mayor. Las complicaciones más frecuentes fueron hemorragia posparto (37,9 % vs. 16,3 % para pacientes con placenta previa mayor y menor, respectivamente), requerimiento de transfusión (23,3 y 9,3 %, respectivamente) y el ingreso materno a la UCI (40,8 % vs. 18,6 %, respectivamente). No se registraron muertes maternas. Conclusiones: las mujeres con placenta previa experimentan una frecuencia elevada de complicaciones; probablemente, dicha frecuencia es más alta cuando se documenta placenta previa mayor. Se requieren más estudios que comparen la frecuencia de complicaciones maternas según el tipo de placenta previa.
Subject(s)
Placenta Previa , Pregnancy , Female , Humans , Retrospective Studies , Colombia , Hospitals , FamilyABSTRACT
Objetivos: Describir la frecuencia de complicaciones maternas en mujeres gestantes con placenta previa (PP) mayor o menor y evaluar una posible asociación entre tipo de PP y la presencia de hemorragia materna severa y otros resultados maternos asociados. Materiales y métodos: Cohorte retrospectiva, descriptiva. Se incluyeron gestantes con 20 semanas o más de embarazo, con diagnóstico confirmado de placenta previa, quienes fueron atendidas en un hospital de alto nivel de complejidad localizado en Cali (Colombia), entre enero de 2011 y diciembre de 2020. Se excluyeron las gestantes con diagnóstico de placenta previa y acretismo placentario concomitante. Las variables recolectadas fueron: edad materna, índice de masa corporal, tabaquismo, obesidad, paridad, presencia de sangrado, hemorragia posparto, manejo de la hemorragia posparto, transfusión y admisión a UCI de la gestante. Se realizó análisis descriptivo. El protocolo fue aprobado por el comité de ética de la Fundación Valle de Lili. Resultados: 146 pacientes cumplieron con los criterios de inclusión. La población estuvo constituida por mujeres con una mediana de edad de 32 años, sin antecedente quirúrgico, con diagnóstico prenatal de placenta previa a la semana 22. En el 70,5 % de los casos se trató de pacientes con placenta previa mayor. Las complicaciones más frecuentes fueron hemorragia posparto (37,9 % vs. 16,3 % para pacientes con placenta previa mayor y menor, respectivamente), requerimiento de transfusión (23,3 y 9,3 %, respectivamente) y el ingreso materno a la UCI (40,8 % vs. 18,6 %, respectivamente). No se registraron muertes maternas. Conclusiones: Las mujeres con placenta previa experimentan una frecuencia elevada de complicaciones; probablemente, dicha frecuencia es más alta cuando se documenta placenta previa mayor. Se requieren más estudios que comparen la frecuencia de complicaciones maternas según el tipo de placenta previa.
Objectives: To describe the frequency of maternal complications in pregnant women with major or minor placenta previa (PP), and to assess a potential association between PP type and the presence of severe maternal bleeding and other associated outcomes. Material and methods: Retrospective descriptive cohort. The study included pregnant women with 20 weeks of gestation or more and a confirmed diagnosis of placenta previa who were seen in a high complexity hospital in Cali (Colombia), between January 2011 and December 2020. Women with a diagnosis of placenta previa and concomitant placenta accreta were excluded. The collected variables were maternal age, body mass index, smoking, obesity, parity, presence of bleeding, postpartum hemorrhage, management of postpartum hemorrhage, transfusion, and maternal ICU admission. A descriptive analysis was performed. The protocol was approved by the ethics committee of Fundaciónn Valle de Lili. Results: A total of 146 patients met the inclusion criteria. The population consisted of women with a mean age of 32 years, with no history of prior surgery, with a prenatal diagnosis of placente previa at week 22; 70% were major placenta previa cases. The most frequent complications were postpartum hemorrhage (37.9 % vs. 16.3 % for patients with major and minor placenta previa, respectively), transfusion requirement (23.3 and 9.3 %, respectively), and maternal ICU admission (40.8 % vs. 18.6 %, respectively). There were no cases of maternal death. Conclusions: There is a high frequency of complications in women with placenta previa, and it is probably higher in cases of major placenta previa. Further studies are needed to compare the frequency of maternal complications according to the type of placenta previa.
Subject(s)
Humans , Female , Pregnancy , ColombiaABSTRACT
ABSTRACT Objective Placenta accreta spectrum (PAS) is a cause of massive obstetric hemorrhage and maternal mortality. The application of family-centered delivery techniques (FCDTs) during surgery to treat this disease is infrequent. We evaluate the implementation of FCDTs during PAS surgeries. Methods This was a prospective, descriptive study that included PAS patients undergoing surgical management over a 12-month period. The patients were divided according to whether FCDTs were applied (group 1) or not (group 2), and the clinical outcomes were measured. In addition, hospital anesthesiologists were surveyed to evaluate their opinions regarding the implementation of FCDTs during the surgical management of PAS. Results Thirteen patients with PAS were included. The implementation of FCDTs during birth was possible in 53.8% of the patients. The presence of a companion during surgery and skin-to-skin contact did not hinder interdisciplinary management in any case. Conclusion Implementation of FCDTs during PAS care is possible in selected patients at centers with experience in managing this disease.
Resumo Objetivo O espectro da placenta acreta (do inglês placenta accreta spectrum - PAS) é causa de hemorragia obstétrica maciça e mortalidade materna. A aplicação de técnicas de parto centrado na família (do inglês family-centered delivery techniques - FCDTs) durante a cirurgia para tratar esta doença é pouco frequente. Avaliamos a implementação das FCDTs durante as cirurgias do PAS. Métodos Estudo prospectivo e descritivo que incluiu pacientes com PAS submetidos a tratamento cirúrgico durante um período de 12 meses. Os pacientes foram divididos de acordo com a aplicação de FCDTs (grupo 1) ou não (grupo 2), e os resultados clínicos foram medidos. Além disso, anestesiologistas hospitalares foram entrevistados para avaliar suas opiniões sobre a implementação das FCDTs durante o manejo cirúrgico do PAS. Resultados Foram incluídos 13 pacientes com PAS. A implementação de FCDTs durante o parto foi possível em 53,8% das pacientes. A presença do acompanhante durante a cirurgia e o contato pele a pele não prejudicou o manejo interdisciplinar em nenhum caso. Conclusão A implementação de FCDTs durante o atendimento do PAS é possível em pacientes selecionados em centros com experiência no manejo dessa doença.
Subject(s)
Humans , Female , Pregnancy , Placenta Accreta , Birthing Centers , Patient-Centered Care , Humanization of AssistanceABSTRACT
OBJECTIVE: The immediate referral of patients with risk factors for placenta accreta spectrum (PAS) to specialized centers is recommended, thus favoring an early diagnosis and an interdisciplinary management. However, diagnostic errors are frequent, even in referral centers (RCs). We sought to evaluate the performance of the prenatal diagnosis for PAS in a Latin American hospital. METHODS: A retrospective descriptive study including patients referred due to the suspicion of PAS was conducted. Data from the prenatal imaging studies were compared with the final diagnoses (intraoperative and/or histological). RESULTS: A total of 162 patients were included in the present study. The median gestational age at the time of the first PAS suspicious ultrasound was 29 weeks, but patients arrived at the PAS RC at 34 weeks. The frequency of false-positive results at referring hospitals was 68.5%. Sixty-nine patients underwent surgery based on the suspicion of PAS at 35 weeks, and there was a 28.9% false-positive rate at the RC. In 93 patients, the diagnosis of PAS was ruled out at the RC, with a 2.1% false-negative frequency. CONCLUSION: The prenatal diagnosis of PAS is better at the RC. However, even in these centers, false-positive results are common; therefore, the intraoperative confirmation of the diagnosis of PAS is essential.
OBJETIVO: Recomenda-se o encaminhamento imediato de pacientes com fatores de risco para espectro placentário acreta (PAS, na sigla em inglês) para centros especializados, favorecendo assim o diagnóstico precoce e o manejo interdisciplinar. No entanto, erros diagnósticos são frequentes, mesmo em centros de referência (CRs). Buscou-se avaliar o desempenho do diagnóstico pré-natal para PAS em um hospital latino-americano. MéTODOS: Um estudo descritivo retrospectivo incluindo pacientes encaminhados por suspeita de SAP foi realizado. Os dados dos exames de imagem do pré-natal foram comparados com os diagnósticos finais (intraoperatórios e/ou histológicos). RESULTADOS: Foram incluídos 162 pacientes no presente estudo. A idade gestacional mediana no momento da primeira ultrassonografia suspeita de PAS foi de 29 semanas, mas as pacientes chegaram ao CR de PAS com 34 semanas. A frequência de resultados falso-positivos nos hospitais de referência foi de 68,5%. Sessenta e nove pacientes foram operadas com base na suspeita de PAS com 35 semanas e houve 28,9% de falso-positivos no CR. Em 93 pacientes, o diagnóstico de PAS foi descartado no CR, com frequência de falso-negativos de 2,1%. CONCLUSãO: O diagnóstico pré-natal de PAS é melhor no CR. Entretanto, mesmo nestes centros, resultados falso-positivos são comuns; portanto, a confirmação intraoperatória do diagnóstico de SAP é essencial.
Subject(s)
Placenta Accreta , Female , Gestational Age , Humans , Infant , Placenta , Placenta Accreta/diagnostic imaging , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: Placenta accreta spectrum (PAS) is a cause of massive obstetric hemorrhage and maternal mortality. The application of family-centered delivery techniques (FCDTs) during surgery to treat this disease is infrequent. We evaluate the implementation of FCDTs during PAS surgeries. METHODS: This was a prospective, descriptive study that included PAS patients undergoing surgical management over a 12-month period. The patients were divided according to whether FCDTs were applied (group 1) or not (group 2), and the clinical outcomes were measured. In addition, hospital anesthesiologists were surveyed to evaluate their opinions regarding the implementation of FCDTs during the surgical management of PAS. RESULTS: Thirteen patients with PAS were included. The implementation of FCDTs during birth was possible in 53.8% of the patients. The presence of a companion during surgery and skin-to-skin contact did not hinder interdisciplinary management in any case. CONCLUSION: Implementation of FCDTs during PAS care is possible in selected patients at centers with experience in managing this disease.
OBJETIVO: O espectro da placenta acreta (do inglês placenta accreta spectrum - PAS) é causa de hemorragia obstétrica maciça e mortalidade materna. A aplicação de técnicas de parto centrado na família (do inglês family-centered delivery techniques - FCDTs) durante a cirurgia para tratar esta doença é pouco frequente. Avaliamos a implementação das FCDTs durante as cirurgias do PAS. MéTODOS: Estudo prospectivo e descritivo que incluiu pacientes com PAS submetidos a tratamento cirúrgico durante um período de 12 meses. Os pacientes foram divididos de acordo com a aplicação de FCDTs (grupo 1) ou não (grupo 2), e os resultados clínicos foram medidos. Além disso, anestesiologistas hospitalares foram entrevistados para avaliar suas opiniões sobre a implementação das FCDTs durante o manejo cirúrgico do PAS. RESULTADOS: Foram incluídos 13 pacientes com PAS. A implementação de FCDTs durante o parto foi possível em 53,8% das pacientes. A presença do acompanhante durante a cirurgia e o contato pele a pele não prejudicou o manejo interdisciplinar em nenhum caso. CONCLUSãO: A implementação de FCDTs durante o atendimento do PAS é possível em pacientes selecionados em centros com experiência no manejo dessa doença.
Subject(s)
Placenta Accreta , Pregnancy , Female , Humans , Placenta Accreta/surgery , Prospective Studies , Hysterectomy/methods , Cesarean Section/methods , Maternal Mortality , Retrospective Studies , PlacentaABSTRACT
Abstract Objective The immediate referral of patients with risk factors for placenta accreta spectrum (PAS) to specialized centers is recommended, thus favoring an early diagnosis and an interdisciplinary management. However, diagnostic errors are frequent, even in referral centers (RCs). We sought to evaluate the performance of the prenatal diagnosis for PAS in a Latin American hospital. Methods A retrospective descriptive study including patients referred due to the suspicion of PAS was conducted. Data from the prenatal imaging studies were compared with the final diagnoses (intraoperative and/or histological). Results A total of 162 patients were included in the present study. The median gestational age at the time of the first PAS suspicious ultrasound was 29 weeks, but patients arrived at the PAS RC at 34 weeks. The frequency of false-positive results at referring hospitals was 68.5%. Sixty-nine patients underwent surgery based on the suspicion of PAS at 35 weeks, and there was a 28.9% false-positive rate at the RC. In 93 patients, the diagnosis of PAS was ruled out at the RC, with a 2.1% false-negative frequency. Conclusion The prenatal diagnosis of PAS is better at the RC. However, even in these centers, false-positive results are common; therefore, the intraoperative confirmation of the diagnosis of PAS is essential.
Resumo Objetivo Recomenda-se o encaminhamento imediato de pacientes com fatores de risco para espectro placentário acreta (PAS, na sigla em inglês) para centros especializados, favorecendo assim o diagnóstico precoce e o manejo interdisciplinar. No entanto, erros diagnósticos são frequentes, mesmo em centros de referência (CRs). Buscou-se avaliar o desempenho do diagnóstico pré-natal para PAS em um hospital latino-americano. Métodos Um estudo descritivo retrospectivo incluindo pacientes encaminhados por suspeita de SAP foi realizado. Os dados dos exames de imagem do pré-natal foram comparados com os diagnósticos finais (intraoperatórios e/ou histológicos). Resultados Foram incluídos 162 pacientes no presente estudo. A idade gestacional mediana no momento da primeira ultrassonografia suspeita de PAS foi de 29 semanas, mas as pacientes chegaram ao CR de PAS com 34 semanas. A frequência de resultados falso-positivos nos hospitais de referência foi de 68,5%. Sessenta e nove pacientes foram operadas com base na suspeita de PAS com 35 semanas e houve 28,9% de falso-positivos no CR. Em 93 pacientes, o diagnóstico de PAS foi descartado no CR, com frequência de falso-negativos de 2,1%. Conclusão O diagnóstico pré-natal de PAS é melhor no CR. Entretanto, mesmo nestes centros, resultados falso-positivos são comuns; portanto, a confirmação intraoperatória do diagnóstico de SAP é essencial.
Subject(s)
Humans , Female , Pregnancy , Placenta Accreta , Surgical Procedures, Operative , Ultrasonography, Prenatal , Ultrasonography , False Positive ReactionsSubject(s)
Placenta Accreta , Placenta Previa , Cesarean Section , Female , Humans , Placenta , Placenta Accreta/diagnostic imaging , Pregnancy , Research , Retrospective StudiesSubject(s)
Placenta Accreta , Placenta Previa , Cesarean Section , Female , Humans , Hysterectomy , Placenta , Placenta Accreta/surgery , Pregnancy , Retrospective StudiesABSTRACT
Obstetrical hemorrhage is the leading cause of maternal death, and its treatment frequently involves surgical procedures. In the most serious cases, regardless of the etiology, the priority is to stop the bleeding and obtain the conditions to definitively repair the injury that generates the bleeding. Multiple options for achieving hemostasis have been described, but most of them require extensive training or technological resources that are not available in all hospitals. Internal manual aortic compression is a procedure that is widely used in the management of massive pelvic bleeding; it was first described more than 50 years ago in obstetrics but is rarely used by obstetricians today. We describe in detail the technique for internal manual aortic compression and highlight the simplicity and effectiveness of the procedure, especially as an initial measure, to avoid the metabolic consequences of massive blood loss. We hope that internal manual aortic compression is taken into account by each obstetrician when caring for a pregnant woman with massive bleeding.
