RESUMO Objetivo: Reconhecer e abordar a síndrome de Patau, apesar de sua raridade e da baixa expectativa de vida associada, por meio da apresentação de um estudo de caso de uma paciente de dois anos que recebe cuidados em casa por intermédio de serviços de home care. Descrição do caso: Apresentamos uma paciente do sexo feminino que desafiou as probabilidades, com sobrevivência prolongada devida, possivelmente, ao home care. Ela nasceu por cesariana, com 31 semanas + 4 dias, em razão da restrição do crescimento uterino. A mãe, de 36 anos, recebeu cuidados pré-natais adequados e gozava de boa saúde. O diagnóstico da síndrome de Patau foi confirmado por meio de cariótipo após o nascimento. Apesar da gravidade clínica do caso, a paciente, hoje com dois anos, recebe atendimento domiciliar especializado, apoiado por traqueostomia e gastrostomia. Um técnico de enfermagem dedicado 24 horas garante acompanhamento contínuo, e a paciente beneficia-se de check-ups médicos regulares, fisioterapia cinco vezes por semana, sessões semanais de fonoaudiologia, consultas mensais com nutricionista e apoio psicológico contínuo aos familiares. Comentários: Esta abordagem multidisciplinar resultou em melhora motora discreta, destacando o impacto positivo do cuidado integral no seu bem-estar geral. A existência de uma rede robusta de apoio às famílias que enfrentam desafios semelhantes é crucial, e um cuidado multidisciplinar pode prevenir eficazmente as complicações associadas a esta impactante síndrome. Objetivo associada care probabilidades devida possivelmente cesariana 3 dias uterino mãe prénatais pré natais saúde nascimento especializado gastrostomia 2 beneficiase beneficia se checkups check ups regulares semana fonoaudiologia familiares Comentários discreta bemestar bem estar geral crucial

ABSTRACT Objective: To recognize and address Patau’s syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. Case description: We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau’s syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members. Comments: This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. Objective Pataus Patau s expectancy 2yearold yearold 2 year old services description survival 3 growth mother 36 health birth homebased home based gastrostomy 24hour hour 24 monitoring checkups, checkups check ups, ups check-ups week sessions nutritionist members Comments response wellbeing. wellbeing well being. being well-being crucial

Resumen Introducción: La coartación de la aorta (CoA) es una de las cardiopatías congénitas más frecuentes. La detección prenatal es baja y con una tasa de falsos positivos de hasta un 38%. Objetivo: Evaluar el rendimiento diagnóstico de la ecocardiografía fetal en la detección de CoA posnatal en fetos evaluados en el CERPO durante el periodo 2003 a 2021. Método: Se realizó un estudio retrospectivo de pacientes con sospecha de CoA por desproporción de cavidades y que fueron evaluadas con ecocardiografía fetal. Las biometrías cardiacas evaluadas fueron el diámetro en fin de diástole de ventrículo derecho e izquierdo, diámetro anillo válvula pulmonar y válvula aórtica, y se calcularon sus relaciones. Resultados: Un total de 43 pacientes con sospecha de CoA aislada se incluyeron en el análisis. La tasa de falsos positivos del examen ecocardiográfico prenatal fue de un 48,8%. La relación entre el anillo de válvula pulmonar y aorta fue mayor en fetos con CoA confirmada en el periodo neonatal (p = 0,011). Al considerar un valor sobre 1,53 se observó una sensibilidad del 68,2% y una especificidad del 61,9%. Conclusiones: La sospecha prenatal de CoA por asimetría de cavidades y grandes vasos posee una baja sensibilidad y un elevado número de falsos positivos.

Abstract Introduction: Coarctation of the aorta (CoA) is one of the most frequent congenital heart diseases. Prenatal detection is low, with a false positive rate of up to 38%. Objective: Evaluate the diagnostic performance of fetal echocardiography in the detection of postnatal CoA in fetuses evaluated at CERPO during 2003 to 2021. Method: This is a retrospective study of patients with suspected CoA due to ventricular disproportion who were evaluated with fetal echocardiography. The cardiac measures evaluated were right and left ventricular end-diastolic diameter, pulmonary and aortic valves diameter and their ratios. Results: A total of 43 patients with suspected isolated CoA were included in the analysis. The false-positive rate of prenatal echocardiographic was 48.8%. The ratio between pulmonary valve and aorta was higher in fetuses with confirmed CoA in the neonatal period (p = 0.011). When considering a value above 1.53, a sensitivity of 68.2% and a specificity of 61.9% was observed. Conclusions: Prenatal suspicion of CoA due to asymmetry of ventricles and/or great vessels has a low sensitivity and a high number of false positives.

Abstract Objective: Ovarian torsion (OT) represents a severe gynecological emergency in female pediatric patients, necessitating immediate surgical intervention to prevent ovarian ischemia and preserve fertility. Prompt diagnosis is, therefore, paramount. This retrospective study set out to assess the utility of combined clinical, ultrasound, and laboratory features in diagnosing OT. Methods: The authors included 326 female pediatric patients aged under 14 years who underwent surgical confirmation of OT over a five-year period. Logistic regression analysis was employed to pinpoint factors linked with OT, and the authors compared clinical presentation, laboratory results, and ultrasound characteristics between patients with OT (OT group) and without OT (N-OT group). The authors conducted receiver operating characteristic (ROC) curve analysis to gauge the predictive capacity of the combined features. Results: Among 326, OTwas confirmed in 24.23 % (79 cases) of the patients. The OT group had a higher incidence of prenatal ovarian masses than the N-OT (22 cases versus 7 cases) (p < 0.0001). Similarly, the authors observed significant differences in the presence of lower abdominal pain, suspected torsion on transabdominal ultrasound, and a high neutrophil-lymphocyte ratio (NLR > 3) between the OTand non-OT groups (p < 0.05). Furthermore, when these parameters were combined, the resulting area under the curve (AUC) was 0.868, demonstrating their potential utility in OT diagnosis. Conclusion: This study demonstrates a prediction model integrating clinical, laboratory, and ultrasound findings that can support the preoperative diagnosis of ovarian torsion, thereby enhancing diagnostic precision and improving patient management. Future prospective studies should concentrate on developing clinical predictive models for OTin pediatric patients. Objective fertility is therefore paramount Methods 32 1 fiveyear five year period presentation results NOT N group. . ROC (ROC Results 2423 24 23 24.2 79 (7 22 (2 p 0.0001. 00001 0.0001 0 0001 0.0001) Similarly pain neutrophillymphocyte neutrophil lymphocyte NLR 3 nonOT non 0.05. 005 0.05 05 0.05) Furthermore AUC (AUC 0868 868 0.868 Conclusion management 242 2 24. ( 0000 0.000 000 00 0.0 086 86 0.86 0.00 0. 08 8 0.8

Resumo O objetivo do trabalho consiste em avaliar o desempenho de serviços de atenção primária à saúde (APS) do estado de São Paulo para prevenção, detecção e assistência à deficiência. Realizou-se uma pesquisa avaliativa em 2.739 serviços de saúde em 514 municípios com 128 indicadores da qualidade organizacional do instrumento QualiAB referentes à dimensão avaliativa “Atenção à deficiência em serviços de atenção primária à saúde”. Foram utilizadas medidas de desempenho e associações entre os escores de cada domínio e variáveis independentes sobre planejamento, avaliação em saúde e rede de apoio, por meio de regressão linear múltipla. O percentual de desempenho para a dimensão foi de 61,6%, para o domínio estrutura (insumos e recursos humanos), 73,6%, para qualificação da atenção ao pré-natal, 68,7%, qualificação da atenção à saúde da criança, 56,1%, prevenção de incapacidades relacionadas a condições crônicas, 55,8%, e atenção à pessoa com deficiência e ao cuidador, 53,9%. Houve associação significativa com variáveis relacionadas ao tipo de serviço e de participação em avaliações de serviços. Os serviços de APS ainda realizam ações incipientes para prevenção, vigilância e diagnóstico das deficiências, assim como para a atenção integral a pessoas com deficiência.

Abstract The objective of this study was to assess the performance of primary health care (PHC) services for disability prevention, detection and assistance in the state of São Paulo. The study included 2739 health services, from 514 municipalities. 128 organizational quality indicators of the QualiAB instrument referring to the evaluative dimension “Attention to disability in primary health care services”. The association of health care performance score of each domain with independent variables, health assessment, and support network were tested using of multiple linear regression. The performance percentage was 61.6% for all domains, 73.6% for structure (inputs and human resources), 68.7% for qualification of prenatal care, 56.1% for qualification of child health care, 55.8% for prevention of disabilities related to chronic conditions, and 53.9% for attention to people with disabilities and caregivers. There was a significant association with variables related to the type of service and participation in service evaluations. PHC services still perform incipient actions for the prevention, surveillance and diagnosis of disabilities as well as for comprehensive care for people with disabilities.

Abstract Primary intestinal lymphangiectasia (PIL) is a rare disease that was discovered in 1961 by Waldmann et al., who first described the concept of intestinal lymphangiectasia. PIL is manifested by large and dilated intestinal lymphatic vessels that lead to the loss of lymphatic fluid to the intestinal lumen, including severe hypoalbuminemia and, consequently, generalized edema. The etiology of PIL is unknown; however, several genes are involved in the development of the lymphatic system. The case of a two-month-old patient with a prenatal diagnosis of ascites on third-trimester ultrasound was presented. The patient was born with rapidly progressive ascites and showed an endoscopic study with evidence of snowflake images and histology compatible with intestinal lymphangiectasia. The patient remained on octreotide infusion at baseline and subsequently with refractory ascites the dose was increased. Several evacuatory paracentesis were performed and he remained on enteral nutrition based on an extensively hydrolyzed formula with a 54% contribution of medium chain triglycerides (MCTs) and parenteral nutrition (PN). Subsequently, the patient was switched to a subcutaneous infusion of octreotide, which allowed hospital discharge and adequate outpatient follow-up with a favorable evolution.

Resumen La linfangiectasia intestinal primaria (LIP) es una enfermedad rara que se descubrió en 1961 por Waldmann y colaboradores, quienes describieron por primera vez el concepto de linfangiectasia intestinal. La LIP se manifiesta por vasos linfáticos intestinales grandes y dilatados que conllevan la pérdida de líquido linfático hacia la luz intestinal, siendo responsable de una hipoalbuminemia grave y, en consecuencia; de un edema generalizado. La etiología de la LIP es desconocida, sin embargo, varios genes están implicados en el desarrollo del sistema linfático. Se presenta el caso de una paciente de dos meses de edad con diagnóstico prenatal de ascitis en ecografía de tercer trimestre. Nació con ascitis rápidamente progresiva y presentó un estudio endoscópico con evidencia de imágenes en copos de nieve e histología compatible con linfangiectasia intestinal. Se mantuvo en tratamiento con infusión de octreotida al inicio y posteriormente con ascitis refractaria se aumentó la dosis. Se realizaron varias paracentesis evacuatorias y permaneció con nutrición enteral a base de una fórmula extensamente hidrolizada con aporte del 54% de triglicéridos de cadena media (TCM) y nutrición parenteral (NPT). Más tarde, se cambió a infusión de octreotida por vía subcutánea, lo que permitió el alta hospitalaria y un seguimiento adecuado por consulta externa con una evolución favorable.

Resumo O objetivo do trabalho consiste em avaliar o desempenho de serviços de atenção primária à saúde (APS) do estado de São Paulo para prevenção, detecção e assistência à deficiência. Realizou-se uma pesquisa avaliativa em 2.739 serviços de saúde em 514 municípios com 128 indicadores da qualidade organizacional do instrumento QualiAB referentes à dimensão avaliativa “Atenção à deficiência em serviços de atenção primária à saúde”. Foram utilizadas medidas de desempenho e associações entre os escores de cada domínio e variáveis independentes sobre planejamento, avaliação em saúde e rede de apoio, por meio de regressão linear múltipla. O percentual de desempenho para a dimensão foi de 61,6%, para o domínio estrutura (insumos e recursos humanos), 73,6%, para qualificação da atenção ao pré-natal, 68,7%, qualificação da atenção à saúde da criança, 56,1%, prevenção de incapacidades relacionadas a condições crônicas, 55,8%, e atenção à pessoa com deficiência e ao cuidador, 53,9%. Houve associação significativa com variáveis relacionadas ao tipo de serviço e de participação em avaliações de serviços. Os serviços de APS ainda realizam ações incipientes para prevenção, vigilância e diagnóstico das deficiências, assim como para a atenção integral a pessoas com deficiência. (APS Realizouse Realizou se 2739 2 739 2.73 51 12 Atenção saúde. . saúde” planejamento apoio múltipla 616 61 6 61,6% insumos humanos, humanos , humanos) 736 73 73,6% prénatal, prénatal pré natal, natal pré-natal 687 68 7 68,7% criança 561 56 1 56,1% crônicas 558 55 8 55,8% cuidador 539 53 9 53,9% deficiências 273 2.7 5 61,6 73,6 68,7 56,1 55,8 53,9 27 2. 61, 73, 68, 56, 55, 53,

Abstract The objective of this study was to assess the performance of primary health care (PHC) services for disability prevention, detection and assistance in the state of São Paulo. The study included 2739 health services, from 514 municipalities. 128 organizational quality indicators of the QualiAB instrument referring to the evaluative dimension “Attention to disability in primary health care services”. The association of health care performance score of each domain with independent variables, health assessment, and support network were tested using of multiple linear regression. The performance percentage was 61.6% for all domains, 73.6% for structure (inputs and human resources), 68.7% for qualification of prenatal care, 56.1% for qualification of child health care, 55.8% for prevention of disabilities related to chronic conditions, and 53.9% for attention to people with disabilities and caregivers. There was a significant association with variables related to the type of service and participation in service evaluations. PHC services still perform incipient actions for the prevention, surveillance and diagnosis of disabilities as well as for comprehensive care for people with disabilities. (PHC Paulo 273 51 municipalities 12 Attention services. . services” assessment regression 616 61 6 61.6 domains 736 73 73.6 inputs resources, resources , resources) 687 68 7 68.7 561 56 1 56.1 558 55 8 55.8 conditions 539 53 9 53.9 caregivers evaluations 27 5 61. 73. 68. 56. 55. 53. 2

Abstract Congenital knee dislocation (CKD), a rare yet impactful condition, presents challenges in diagnosis and treatment. We report a clinical case of a prenatally diagnosed CKD at 31+4 weeks of gestation, emphasizing multidisciplinary management’s pivotal role. An early orthopedic intervention, with conservative measures, was fundamental to achieve a favorable infant outcome, underlining the importance of timely diagnosis and expert care. Prenatal CKD ultrasound screening therefore emerges as a crucial tool in guiding therapeutic decisions, optimizing postnatal outcomes, and reducing the need for surgical intervention.

Resumo A luxação congênita do joelho (CKD), uma condição rara porém impactante, apresenta desafios no diagnóstico e tratamento. Apresentamos um caso clínico de CKD com diagnóstico pré-natal, às 31+4 semanas de gestação, enfatizando o papel fundamental da abordagem multidisciplinar. A intervenção ortopédica precoce, com medidas conservadoras, foi fundamental para alcançar um desfecho favorável para a criança, destacando a importância do diagnóstico precoce e do cuidado especializado. O rastreio pré-natal por ecografia da CKD surge, portanto, como uma ferramenta crucial na orientação das decisões terapêuticas, otimizando os resultados pós-natais e reduzindo a necessidade de intervenção cirúrgica.

Abstract Background: Long QT syndrome is a channelopathy that affects ventricular repolarization and increases the risk of severe ventricular arrhythmias. It can be congenital or acquired, and is a known cause of sudden cardiac death. Case report: A 28-year-old primigravida with no significant medical history. Prenatal ultrasounds revealed sustained fetal sinus bradycardia from week 28, without hemodynamic repercussion, which persisted until the end of gestation (at 37+3 weeks). Serial electrocardiograms were performed after birth, showing repolarization abnormalities with prolonged corrected QT interval. A genetic study confirmed long QT syndrome type 1, and oral treatment with beta-blockers was initiated, showing a positive response. Conclusions: Long QT syndrome is often diagnosed postnatally. It is important to be aware of his prenatal clinical features in order to establish an early diagnosis and minimize the risk of sudden death in these patients.

Resumen Antecedentes: El síndrome de QT largo es una canalopatía que afecta a la repolarización ventricular y aumenta el riesgo de sufrir arritmias ventriculares graves. Puede ser congénito o adquirido, y es una causa conocida de muerte súbita. Caso clínico: Gestante primigesta, de 28 años, sin antecedentes de interés. En ecografías prenatales se objetivó en el feto bradicardia sinusal mantenida desde la semana 28, sin repercusión hemodinámica, que persistió hasta la finalización de la gestación (semana 37+3). Al nacimiento se realizaron electrocardiogramas seriados que mostraron alteraciones en la repolarización con alargamiento del intervalo QT corregido. Se realizó estudio genético que confirmó síndrome de QT largo tipo 1 y se inició tratamiento oral con beta-bloqueantes, con buena respuesta. Conclusiones: El síndrome de QT largo suele diagnosticarse posnatalmente. Es importante conocer sus características clínicas prenatales para poder establecer un diagnóstico precoz y minimizar así el riesgo de muerte súbita de estos pacientes.

Resumen Introducción: El amniocele es una hernia del saco amniótico a través de un defecto en la pared del útero, el cual puede deberse a ruptura uterina, secundario a daños preexistentes, anomalías uterinas o en un útero sin cicatrices. Caso clínico: Presentamos el caso de una paciente de 37 años, con antecedente de dos partos por cesárea, a quien en la semana 25,5 de embarazo se le diagnostica por ecografía amniocele en la pared anterior de útero contenido por la vejiga, además de signos ecográficos de acretismo placentario. La posterior realización de resonancia magnética confirma el diagnóstico. Se realiza manejo expectante con estancia continua intrahospitalaria estricta. Resolución obstétrica a las 34 semanas por cesárea, con extracción fetal por fondo uterino sin complicaciones, con posterior realización de histerectomía con placenta in situ. Conclusiones: Este reporte de caso ilustra la importancia de la identificación temprana de esta condición por ser una complicación infrecuente, pero de grave pronóstico fetomaterno en ausencia de atención inmediata.

Abstract Introduction: Amniocele is a hernia of the amniotic sac through a defect in the uterine wall, which can be caused by uterine rupture secondary to preexisting damage, uterine anomalies, or a scarless uterus. Case report: We present a case of a 37-year-old patient with a history of two previous cesarean deliveries. At 25.5 weeks of gestation, the diagnosis of amniocele in the anterior uterine wall, contained by the bladder, along with ultrasound signs of placenta accreta, was confirmed through ultrasound. Subsequent magnetic resonance imaging further confirmed the diagnosis. Expectant management with strict continuous intrahospital stay was implemented. Obstetric resolution was achieved at 34 weeks through cesarean delivery, with uncomplicated fetal extraction through the uterine fundus. Subsequently, a hysterectomy was performed with the placenta left in situ. Conclusions: This case report illustrates the importance of early identification of this condition due to its infrequent but serious feto-maternal prognosis in the absence of immediate attention.

Resumen Introducción: Las malformaciones del desarrollo cortical se deben a alteraciones en la migración del neuroblasto durante la formación de la corteza cerebral. Se desconoce su frecuencia en embarazos monocoriales. Objetivo: Reportar el caso de un embarazo monocorial con diagnóstico de malformación del desarrollo cortical en uno de los fetos y revisar la literatura referente a su diagnóstico y pronóstico. Método: Mujer de 19 años, embarazo monocorial biamniótico de 26 semanas, que acudió con estudio ecográfico y resonancia fetal que evidenció en uno de los fetos asimetría de los hemisferios cerebrales, hipoplasia de la cisura de Silvio izquierda con simplificación del patrón giral por focos de paquigiria y polimicrogiria, con confirmación posnatal de alteración en la migración neuronal asociada a hipoplasia vermiana. Resultados: Se encontraron en la literatura tres casos de embarazo múltiple monocorial con trastorno de la migración neuronal con recién nacidos vivos. Los hallazgos más comunes fueron microcefalia, lisencefalia e hipoplasia cerebelosa. Conclusiones: El diagnóstico prenatal del trastorno de la migración neuronal se realiza con ecografía y resonancia fetal. La más frecuente es la alteración de la migración neuronal tipo II. El pronóstico depende del tipo de alteración; sin embargo, la mayoría de los casos presentan trastornos epileptiformes con alteraciones del neurodesarrollo.

Abstract Introduction: Malformations of cortical development are the result from alterations in the neuroblast migration during the cerebral cortex formation. It’s frequency in monochorial multiple pregnancies remains unknown. Objective: To report a case of monochorial multiple pregnancy with diagnosis of malformation of the cortical development in one of the fetuses. In addition, to review the literature regarding the diagnosis and prognosis of this entity. Method: A 19-year-old female with a monochorial diamniotic pregnancy of 26 weeks’ gestation, arrived with an ultrasound anatomy scan visit, and fetal magnetic resonance imaging, we detected asymmetry in the cerebral hemispheres one of the fetuses, hypoplasia of the left sulcus of Sylvius with simplification of the gyrus pattern due to clusters of pachygyria and polymicrogyria. Those findings were confirmed afterbirth, with a definite diagnosis of neuronal migration disorder associated with vermian hypoplasia. Results: Three cases of monochorial pregnancy with neuronal migration disorder with live newborn, common findings like microcephaly, lissencephaly and vermian hypoplasia. Conclusions: Prenatal diagnosis with neuronal migration disorder is done via ultrasound and magnetic resonance imaging. Neuronal migration disorders type II are the most common of them. Prognosis depends on the type of disorder; however, most patients have epileptiform activity and neurodevelopment impairment.

Abstract Congenital diaphragmatic hernia (CDH) is one of the most severe birth defects, with extremely high neonatal mortality and morbidity. The average gestational age for its diagnosis is 22-24 weeks, but in our clinical case, the echographic signs suggestive of CDH were not present at that gestational age. It is therefore important to value the fetal morphological study in the 3rd trimester ultrasound to detect malformations of late manifestation, such as this one. Ultrasound is crucial for prenatal diagnosis, in order to allow adequate surveillance and planning of delivery in a terciary hospital.

Resumo A Hérnia Diafragmática Congénita (HDC) é um dos defeitos congénitos de maior gravidade, estando associado a elevada morbilidade e mortalidade neonatal. Esta anomalia congénita é habitualmente diagnosticada às 22-24 semanas, contudo, no presente caso os sinais ecográficos sugestivos desta patologia não se encontravam presentes nessa idade gestacional. Deste modo, é importante avaliar a morfologia fetal no 3.º trimestre, de forma a detectar anomalias de possível manifestação tardia. A ecografia é crucial para o diagnóstico pré-natal da HDC, permitindo uma vigilância adequada e a referenciação in utero para um centro terciário.

Abstract The Stickler syndrome (SS) is a group of hereditary conditions affecting connective tissue, characterized by orofacial, ocular, skeletal and hearing disabilities. Current literature lacks a detailed prenatal phenotype. A 33-year-old, healthy woman without relevant family history, presented on second trimester ultrasound a fetus with increased nuchal fold, macrophtalmia and micrognathia. The amniocenteses results (PCR to exclude trisomies and arrayCGH) were normal. Subsequent ultrasounds revealed craniofacial edema, micrognathia, flat midface and prominent eyeballs and lips. SS suspicion was raised. Postnatal examination revealed craniofacial dysmorphia, bilateral exophthalmos, retrognathism, glossoptosis and posterior cleft palate with COL11A1 gene deletion, confirming type-2 SS.

Resumo A síndrome de Stickler (SS) é um grupo de doenças hereditárias que afeta o tecido conjuntivo e se caracteriza por anomalias orofaciais, oculares, esqueléticas e auditivas. A literatura atual carece de um fenótipo pré-natal detalhado. Grávida de 33 anos, caucasiana, saudável, sem história familiar relevante. Na ecografia do segundo trimestre foi detetado no feto prega da nuca aumentada, macroftalmia e micrognatia. Os resultados do PCR para exclusão de trissomias e arrrayCGH decorrentes da amniocentese realizada foram normais. Nas ecografias subsequentes o feto apresentava edema craniofacial, micrognatia, globos oculares e lábios proeminentes. A suspeita de SS foi levantada. No exame pós-natal foi evidente a presença de dismorfia craniofacial, exoftalmia bilateral, retrognatismo, glossoptose e fenda do palato. Uma deleção do gene COL11A1, confirmou o SS tipo 2.

ABSTRACT Foundation: Prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Primary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the request of couples. Objective: Determine the type and frequency of hemoglobinopathies in Cuban pregnant women. Method: A descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research method was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemoglobin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. Results: The overall frequency of pregnant women with hemoglobinopathies was 3.5%. Hemoglobinopathies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24% coverage in the country. Conclusions: The detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the interest in continuing the research program to prevent the appearance of severe forms of the disease.

RESUMEN Fundamento: La detección prenatal de hemoglobinopatías en Cuba se realiza a todas las gestantes en la atención Primaria de Salud, a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar el tipo y frecuencia de hemoglobinopatías en gestantes cubanas. Método: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar el tipo de hemoglobinopatías en 1 342 917 gestantes captadas en un periodo de diez años. El método de pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación por electroforesis de hemoglobina en gel de agarosa a pH ácido, ambos métodos mediante el equipo Hydrasys 2. Resultados: La frecuencia global de gestantes con hemoglobinopatías fue de 3,5 %. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El programa alcanzó 99,24 % de cobertura en el país. Conclusiones: La detección de las hemoglobinopatías en gestantes residentes en Cuba, permitió conocer el tipo de hemoglobinopatía y la frecuencia de hemoglobinas anormales y nuevas variantes, de ahí el interés de continuar el programa de pesquisa para prevenir la aparición de formas graves de la enfermedad.

ABSTRACT Introduction: the detection and notification of patients with extremely severe maternal morbidity should be accepted as an important complementary tool to maternal mortality studies. Objective: to characterize patients with extremely severe maternal morbidity in the Province of Villa Clara during the period from 2017 to 2021. Methods: a cross-sectional study was carried out at the “Mariana Grajales” Provincial Gynecological-Obstetric University Hospital and the “Arnaldo Milián Castro” Provincial Clinical Surgical University Hospital. We worked with the entire population, defined by patients with a diagnosis of extremely severe maternal morbidity in the aforementioned context. The data necessary for the study was obtained through a documentary review that included the nationally validated form and the individual medical records of the patients studied. Results: predominated were women with a personal pathological history of arterial hypertension (49.4%), with dystocic birth (53.4%), captured before 12 weeks (79.3%), with more than 15 prenatal controls (51.1%) and with adequate weight (66.7%). 54% were diagnosed after delivery, 36.2% due to complications of existing disease and 20.1% due to hemorrhagic complications, with a predominance of management established by surgical intervention in 53.4%. 3.4% of the patients died. Conclusions: patients with a personal pathological history of arterial hypertension predominated, who became ill during the postpartum period due to complications of existing diseases and hemorrhage. The most frequent requirement was surgical intervention. The Province of Villa Clara remains below the standard considered less than 4% in maternal mortality.

RESUMEN Introducción: la detección y la notificación de las pacientes con morbilidad materna extremadamente grave deben aceptarse como una importante herramienta complementaria a los estudios de mortalidad materna. Objetivo: caracterizar a las pacientes con morbilidad materna extremadamente grave en la Provincia de Villa Clara durante el período del año 2017 al 2021. Métodos: se realizó un estudio de tipo transversal en Hospital Universitario Gineco-obstétrico Provincial “Mariana Grajales” y el Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”. Se trabajó con toda la población, definida por las pacientes con diagnóstico de morbilidad materna extremadamente grave en el contexto mencionado. Los datos necesarios para el estudio se obtuvieron a través de una revisión documental que incluyó el formulario validado a nivel nacional y las historias clínicas individuales de las pacientes estudiadas. Resultados: predominaron las mujeres con antecedentes patológicos personales de hipertensión arterial (49,4%), con parto distócico (53,4%), captadas antes de las 12 semanas (79,3%), con más de 15 controles prenatales (51,1%) y con peso adecuado (66,7%). El 54% se diagnosticó después del parto, el 36,2% por complicaciones de enfermedad existente y el 20,1% por complicaciones hemorrágicas, con predominio de manejo instaurado por intervención quirúrgica en un 53,4%. El 3,4% de las pacientes fallecieron. Conclusiones: predominaron las pacientes con antecedentes patológicos personales de hipertensión arterial, que enfermaron durante el puerperio por complicaciones de enfermedades existentes y hemorragia. El requerimiento más frecuente fue la intervención quirúrgica. La Provincia de Villa Clara se mantiene por debajo del estándar considerado menor de 4% en la mortalidad materna.

Abstract Introduction. Metabolic bone disease of premature infants is a rare complication characterized by a lower mineral content in bone tissue. Objective. To establish the incidence of metabolic bone disease in premature infants and to determine associated risk factors. Materials and method. We conducted a descriptive prospective cohort study for one year in all newborns under 32 gestational weeks, or 1,500 g, at the Hospital Universitario de Santander to determine the incidence of metabolic bone disease. We collected demographic data and prenatal histories of the selected patients, and later, we measured serum alkaline phosphatase and serum phosphorus at the third week of birth, having as reference values for diagnosis less than 5.6 mg/dl for the first one and more than 500 UI/L for the second one. We applied statistical tools for data analysis, such as average proportions, dispersion, distribution and association measures, and binomial regression. Results. From a total of 58 patients, 7 had a diagnosis of metabolic bone disease, with an incidence of 12%. The weight was reported as an independent variable for the development of the disease, being significant in children under 1,160 g, as well as prolonged parenteral nutrition for more than 24 days. When performing the multivariate analysis, low weight and short time of parenteral nutrition appeared as risk factors; in the same way, maternal age below 22 years is associated with a higher relative risk, even more than a newborn weight inferior to 1,160 g. Conclusion. Establishing an early intervention in patients with metabolic bone disease enhancing risk factors, such as low weight and prolonged parenteral nutrition, is critical to prevent severe complications.

Resumen Introducción. La enfermedad metabólica ósea de neonatos prematuros es una complicación poco común que se caracteriza por una disminución del contenido mineral en el hueso. Objetivo. Establecer la incidencia de la enfermedad metabólica ósea en neonatos prematuros y los factores de riesgo asociados. Materiales y métodos. Durante un año, se realizó un estudio prospectivo de cohorte, descriptivo, con todos los neonatos nacidos con menos de 32 semanas de gestación o un peso menor de 1.500 g en el Hospital Universitario de Santander. Se recolectaron datos demográficos y antecedentes prenatales de los pacientes seleccionados. A la tercera semana de nacimiento, se midieron la fosfatasa alcalina y el fósforo sérico, tomando como valores de referencia diagnóstica aquellos inferiores a 5,6 mg/dl para el primero y aquellos mayores de 500 UI/L para la segunda. Para el análisis de la información, se emplearon herramientas estadísticas, como proporciones de promedios, medidas de dispersión, distribución y asociación, y regresión binomial. Resultados. De un total de 58 pacientes, 7 tuvieron diagnóstico de enfermedad metabólica ósea, con una incidencia del 12 %. De las variables estudiadas, el peso se reportó como una variable independiente para el desarrollo de la enfermedad, significativa en aquellos neonatos con peso menor de 1.160 g, al igual que la nutrición parenteral prolongada por más de 24 días. Al hacer el análisis multivariado, La edad materna menor de 22 años representó un riesgo relativo mayor, en comparación con un peso inferior a 1.160 g. Conclusión. Se estableció la importancia de una intervención temprana en pacientes con factores de riesgo para enfermedad metabólica ósea, como bajo peso (menor de 1.160 g) y nutrición parenteral prolongada (mayor de 24 días), con el fin de prevenir complicaciones graves.