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INTRODUCCIÓN Las enfermedades reumáticas autoinmunes sistémicas (ERAS) y las trombofilias hereditarias (TH) pueden estar asociadas a embarazos de alto riesgo obstétrico. El objetivo principal de este estudio consiste en describir los episodios de gestación atendidos en una consulta multidisciplinar (CM) de mujeres embarazadas con ERAS y TH primarias. METODOLOGÍA Estudio observacional retrospectivo basado en datos de rutina de práctica clínica registrados en una base de datos de mujeres embarazadas con ERAS y TH primarias atendidas en una CM y seguidas consecutivamente en el Hospital Universitario Virgen de las Nieves de Granada entre enero de 2012 y mayo de 2018. El análisis de las variables basales antes de la atención en la CM se realizó por mujeres (n = 143) y el de las variables de seguimiento por episodios de gestación (n = 198). Este estudio describe los resultados gestacionales exitosos con recién nacidos vivos, los resultados gestacionales adversos (abortos y muertes fetales), las complicaciones neonatales y las complicaciones maternas durante la atención en la CM. Los resultados gestacionales adversos durante la atención estándar (previa a la CM) fueron comparados con los registrados durante la CM. Para esta comparación se calculó la reducción absoluta del riesgo (RAR) y el número necesario de mujeres a tratar (NNT). RESULTADOS Se registraron 198 embarazos pertenecientes a 143 mujeres (112 con ERAS y 31 con TH primarias). Se registraron 191 (96.5%) resultados gestacionales exitosos y 7 (3.5%) resultados gestacionales adversos durante la CM (5 abortos y 2 muertes fetales). Los resultados durante la atención estándar previa a la CM mostraron que el 60.8% de las mujeres habían presentado más de un aborto espontáneo y el 4.2% alguna muerte fetal. En cambio, tras la atención en la CM, por cada 100 mujeres tratadas en la CM se registró un 57.3% menos de abortos espontáneos y un 2.8% menos de muertes fetales de las que se producirían si no hubieran sido tratadas en la CM, según la RAR, IC 95% [48.8-65.9] (p_valor < 0.001) e IC 95% [1.1-6.6] (p_valor = 0.289) respectivamente. El NNT para evitar un aborto espontáneo fue de 1.74; IC 95% [1.5-2.1] y para evitar una muerte fetal NNT = 35.75 IC 95% [15.2-90.9]. El 84.8% de los recién nacidos y el 93.3% de las mujeres no experimentaron complicaciones neonatales ni maternas durante la atención en la CM. CONCLUSIONES Este estudio pretende dar a conocer la alta tasa de resultados gestacionales exitosos, así como la reducción drástica de los resultados gestacionales adversos tras la atención en una CM integrada por reumatólogos, internistas, obstetras, hematólogos, nefrólogos, pediatras y/o neonatólogos. Resultados aún más significativos al tratarse de una población con un alto porcentaje de resultados gestacionales adversos durante la atención estándar, previa a la CM. Estos resultados podrían ser útiles para la promoción de las CM en el manejo de los embarazos de mujeres con ERAS y TH., INTRODUCTION Rheumatic diseases (RD) and hereditary thrombophilias (HT) can be associated with high-risk pregnancies. The main objective of this study is to describe the gestational episodes seen in a multidisciplinary consultation (MC) of pregnant women with RD and primary HT. METHODOLOGY Retrospective observational study based on clinical practice data. These ones were recorded in a database of pregnant women with RD and primary HT attended in a MC and consecutively followed up at the Hospital Universitario Virgen de las Nieves in Granada between January 2012 and May 2018. Analysis of baseline variables before MC can was performed by women (n=143) and analysis of follow-up variables by gestation episodes (n=198). This study describes successful gestational outcomes with newborns, adverse gestational outcomes (miscarriages and foetal deaths), neonatal complications and maternal complications during MC care. Adverse gestational outcomes during standard care (pre-MC) were compared with those recorded during MC. For this comparison, the absolute risk reduction (ARR) and the number of needed women to treat (NNT) were calculated. RESULTS A total of 198 pregnancies belonging to 143 women (112 with RD and 31 with HT). There were 191 (96.5%) successful gestational outcomes and 7 (3.5%) adverse gestational outcomes during MC (5 miscarriages and 2 foetal deaths). Results during standard care (pre-MC) showed that 60.8% of women had more than one miscarriage and 4.2% some foetal death. In contrast, after MC care, for every 100 women treated at MC, there were 57.3% fewer miscarriages and 2.8% fewer foetal death than would have occurred if they had not been treated at MC, according to the ARR, 95% CI [48.8-65.9] (p_value < 0.001) and 95% CI [1.1-6.6] (p_value = 0.289) respectively. The NNT to prevent miscarriage was 1.74; 95% CI [1.5-2.1] and to prevent foetal death NNT = 35.75 95% CI [15.2-90.9]. 84.8% of newborns and 93.3% of women did not experience any complication during the MC care. CONCLUSIONS This study aims to show the high rate of successful gestational outcomes, as well as the drastic reduction of adverse gestational outcomes after care in a MC integrated by rheumatologists, internists, obstetricians, hematologists, nephrologists, pediatricians and/or neonatologists. These results are even more significant in a population with a high percentage of adverse outcomes during standard care prior to the MC. These results could be useful for the promotion of MC in the management of pregnancies in women with RD and HT., Tesis Univ. Granada.

Objectives: This review aimed to organize and consolidate the latest knowledge about mutations and genetic polymorphisms related to hereditary thrombophilia and their potential association with pediatric stroke and cerebral palsy (CP). Sources: Scientific articles published from 1993 to 2013, written in Portuguese, English, French, and Spanish, were selected and reviewed. The publications were searched in electronic databases, and also in the collections of local libraries. The terms “hereditary thrombophilia”, “polymorphisms”, “mutation”, “pediatric strokes”, and “cerebral palsy” were used for the research. Summary of the findings: The search in databases and in the bibliographic references retrieved 75 articles for inclusion in this review. Studies that investigated hereditary thrombophilias and their associations to CP and arterial and venous pediatric stroke presented contradictory results. The meta-analysis and case-control studies that showed positive results for this association described only slightly increased relative risks and sometimes had questionable conclusions. The association of two or more hereditary thrombophilias, or the association between thrombophilia and other specific clinical risk factors, suggest a higher risk of CP and pediatric stroke than isolated hereditary thrombophilia. Conclusions: Larger, multicenter studies should be developed in order to elucidate the role of mutations leading to hereditary thrombophilia and the development of CP and pediatric stroke. The complex and multifactorial etiology of CP and stroke makes this an arduous and difficult task; however, the benefits generated by these studies are immeasurable. Resumo: Objetivo: Sistematizar e integrar os últimos conhecimentos sobre mutações e polimorfismos genéticos relacionados às trombofilias hereditárias e suas potenciais associações com acidentes vasculares cerebrais pediátricos (AVC) e paralisia cerebral (PC). Fontes de Dados: Artigos científicos publicados de 1993 a 2013, escritos em português, inglês, francês e espanhol foram selecionados e revisados. As publicações foram pesquisadas nas bases de dados eletrônicas, como também nos acervos das bibliotecas locais. Os termos mutação, polimorfismos, trombofilias hereditárias, acidentes vasculares cerebrais pediátricos e paralisia cerebral foram utilizados para a pesquisa. Síntese dos Dados: A pesquisa nas bases de dados e nas referências bibliográficas identificou 75 artigos para inclusão nesta revisão. Os estudos que investigaram as trombofilias hereditárias e suas associações à PC e aos AVC pediátricos arteriais e venosos apresentaram resultados contraditórios. As metanálises e os estudos caso-controle que demonstraram resultados positivos para esta associação, descreveram riscos relativos discretamente aumentados e, algumas vezes, questionáveis. A associação de duas ou mais trombofilias hereditárias, ou a junção de trombofilias específicas com demais fatores de riscos clínicos, sugerem maior risco no aparecimento da PC e do AVC pediátrico do que as trombofilias hereditárias isoladas. Conclusões: Estudos multicêntricos de grande porte devem ser conduzidos para elucidar o papel real das mutações que levam às trombofilias hereditárias e ao aparecimento da PC e AVC pediátricos. A etiologia multifatorial e complexa da PC e dos AVC torna esta tarefa árdua e difícil, porém, os benefícios gerados por estes estudos são incalculáveis. Keywords: Mutation, Polymorphisms, Hereditary thrombophilia, Pediatric strokes, Cerebral palsy, Palavras-chave: Mutação, Polimorfismos, Trombofilias hereditárias, Acidentes vasculares cerebrais pediátricos, Paralisia cerebral