Resumen La displasia ectodérmica hipohidrótica (DEH) es una genodermatosis caracterizada por afectación de la piel y sus anexos. Su prevalencia se aproxima a 1/5000 recién nacidos en el mundo. Presenta heterogeneidad de locus por lo que su herencia puede ser: autosómica dominante (HAD), autosómica recesiva (HAR) y recesiva ligada al cromosoma X (RLX). Puede detectarse en etapa prenatal, pero en general el diagnóstico se realiza en la primera infancia. La DEH leve se ve en mujeres portadoras de una mutación en el gen EDA (Xq12-13.1). Su expresividad es variable, pero puede llegar a tener gran repercusión bio-psico-social. El tratamiento se define como paliativo, con el uso de cremas hidratantes, control ambiental, prótesis dentales. Un trabajo sobre gemelares diagnosticados en período prenatal y tratados con una enzima sintética intrautero abre gran expectativa sobre la posibilidad de la terapia enzimática o génica. Presentamos el caso de una niña de 4 años con oligodoncia y afectación leve de piel que cuenta con antecedentes familiares por línea materna descriptos como eczema y dermatitis atópica, en la cual se realizó estudio genético que identificó una variante probablemente patogénica en el gen EDA. Para definir la patogenicidad de esta variante, se plantea analizar la segregación en la familia materna, junto con la profundización del análisis fenotípico en estos familiares.

Abstract Hypohydrotic ectodermal dysplasia (HDE) is a genodermatosis characterised by involvement of the skin and its annexes. Its prevalence is close to 1/5.000 newborns in the world. It presents heterogeneity of locus so its inheritance mechanism can be autosomal dominant (ADI), autosomal recessive (ARI) and recessive linked to the X chromosome (RLX). It can be detected at the prenatal stage, but in general the diagnosis is made in early childhood. Mild HDE is seen in women with a mutation in the EDA gene (Xq12-13.1). Its expressiveness is variable, but it can have a great bio-psycho-social impact. The treatment is defined as palliative, with the use of moisturisers, environmental control, dental prostheses. A work on twins diagnosed in the prenatal period and treated with an intrauterous synthetic enzyme opens great expectation about the possibility of enzymatic or gene therapy. We present the case of a 4-year-old girl with oligodontia and mild skin involvement who has a family history described as eczema and atopic dermatitis, in which a genetic study was carried out that identified a probably pathogenic variant in the EDA gene. To define the pathogenicity of this variant, it is proposed to analyse the segregation in the maternal family, along with the deepening of the phenotypic analysis in these family members.

Resumo A displasia ectodérmica hipo-hidrótica (DEH) é uma genodermatose caracterizada pelo envolvimento da pele e seus anexos. Sua prevalência se aproxima de 1/5000 recém-nascidos no mundo. Apresenta heterogeneidade de locus pelo que sua herança pode ser: autossômica dominante (HAD), autossômica recessiva (HAR) e recessiva ligada ao cromossomo X (RLX). Pode ser detectado na fase pré-natal, mas em geral o diagnóstico é feito na primeira infância. A DEH leve é vista em mulheres portadoras de uma mutação no gene EDA (Xq12-13.1). Sua expressividade é variável, mas pode ter grande repercussão bio-psico-social. O tratamento é definido como paliativo, com o uso de cremes hidratantes, controle ambiental, próteses dentárias. Um trabalho sobre gêmeos diagnosticados no período pré-natal e tratados com uma enzima sintética intrauterino abre grande expectativa sobre a possibilidade da terapia enzimática ou gênica. Apresentamos o caso de uma menina de 4 anos com oligodontia e comprometimento leve da pele que tem antecedentes familiares por linha materna descrito como eczema e dermatite atópica, na qual foi realizado um estudo genético que identificou uma variante provavelmente patogênica no gene EDA. Para definir a patogenicidade desta variante, propõe-se analisar a segregação na família materna, juntamente com o aprofundamento da análise fenotípica nesses familiares.

Resumo Avaliar o efeito causal das síndromes hipertensivas da gestação sobre a prematuridade. Os dados foram obtidos a partir do estudo de âmbito nacional “Nascer no Brasil” com 23.894 mulheres. As síndromes hipertensivas compreenderam a síntese das respostas positivas para qualquer uma das questões relativas ao aumento da pressão arterial contidas nos questionários preenchidos com dados do prontuário hospitalar e do cartão de pré-natal, e o desfecho foi o nascimento prematuro precoce e tardio. Foram apontadas no gráfico acíclico direcionado as variáveis de confusão, e o efeito causal foi estimado pelo escore de propensão. Das 20.494 puérperas avaliadas, 2.369 tinham diagnóstico de síndromes hipertensivas, e dentre essas, observou-se 5,8% nascimentos prematuros precoces e 13,5% tardios. Após a ponderação, as mulheres com síndromes hipertensivas tiveram 2,74 a chance de ter nascimento prematuro precoce (ORaj: 2,74; IC95%: 2,12-3,54) e 2,40 a chance de ter nascimento prematuro tardio (ORaj: 2,40; IC95%: 1,86-3,08). O efeito causal das síndromes hipertensivas sobre a prematuridade reafirmou seu papel em suscitar o aumento de nascimentos prematuros, reforçando a relevância do controle das síndromes no pré-natal.

Resumen El artículo tuvo como objetivo evaluar el efecto causal de los síndromes hipertensivos del embarazo sobre la prematuridad. Los datos fueron obtenidos del estudio nacional “Nascer no Brasil” con 23.894 mujeres. Los síndromes hipertensivos consistieron en la síntesis de respuestas positivas a cualquiera de las preguntas relativas al aumento de la presión arterial contenidas en los cuestionarios llenados con datos de la historia clínica y de la ficha prenatal, y el resultado fue parto prematuro y tardío. Las variables de confusión se resaltaron en el gráfico acíclico y el efecto causal se estimó mediante el puntaje de propensión. De las 20.494 puérperas evaluadas, 2.369 fueron diagnosticadas con síndromes hipertensivos, y entre ellas, el 5,8% fueron partos prematuros tempranos y el 13,5% fueron partos prematuros tardíos. Después de la ponderación, las mujeres con síndromes hipertensivos tuvieron una probabilidad de 2,74 de tener un parto prematuro temprano (ORaj: 2,74; IC95%: 2,12-3,54) y una probabilidad de 2,40 de tener un parto prematuro tardío (ORaj: 2,40; IC95%: 1,86-3.08.

Abstract To evaluate the causal effect of hypertensive syndromes during pregnancy (HSP) on prematurity. Data were obtained from the nationwide study “Born in Brazil” (“Nascer no Brasil”), conducted with 23,894 women. Hypertensive syndromes comprised the synthesis of positive responses to any of the questions relating to increased blood pressure contained in the questionnaires completed with data from patients’ hospital records and prenatal cards. The outcome was early and late preterm birth. The confounding variables were indicated in the directed acyclic graph, and the causal effect was estimated by the propensity score. Of the 20,494 postpartum women evaluated in this study, 2,369 presented a diagnosis of hypertensive syndromes, and among these, 5.8% were early premature births and 13.5% were late premature births. After weighting, women with hypertensive syndromes had a 2.74-fold greater chance of having an early preterm birth (ORadj: 2.74; 95%CI: 2.12-3.54) and a 2.40-fold greater chance of having a late preterm birth (ORadj: 2.40; 95%CI: 1.86-3.08). The causal effect of hypertensive syndromes on prematurity reaffirmed their role in causing an increase in premature births, reinforcing the importance of controlling syndromes during prenatal care.

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

RESUMO Objetivo: Relatar um caso de deficiência longitudinal congênita da ulna com oligodactilia bilateral em recém-nascido do sexo masculino. Descrição do caso: Recém-nascido do sexo masculino nascido a termo, cuja gestação foi normal e sem alterações nas ultrassonografias durante o pré-natal, apresentou malformações em membros superiores, com encurtamento do antebraço esquerdo e ausência de três quirodáctilos bilateralmente durante o exame físico neonatal. Foi realizado um estudo diagnóstico baseado em exames complementares como raio X, ultrassonografia abdominal e transfontanela, ecocardiograma e cariótipo, os quais permitiram a identificação detalhada das malformações e a exclusão de demais anomalias, definindo o diagnóstico de deficiência longitudinal congênita da ulna. As condutas da alta hospitalar foram baseadas na necessidade de suporte e reabilitação para o paciente. Comentários: A deficiência longitudinal congênita da ulna é uma rara malformação de membros superiores, cuja incidência estimada é de 1:100.000 recém-nascidos. Acredita-se que esteja relacionada com o gene Sonic Hedgehog, e as anomalias presentes nos membros superiores variam de acordo com o acometimento ulnar. O diagnóstico precoce não é rotineiro, sendo mais comum ao primeiro exame físico do recém-nascido, com o auxílio de exames de imagem. Objetivo recémnascido recém Recémnascido Recém termo prénatal, prénatal pré natal, natal pré-natal neonatal X transfontanela cariótipo paciente Comentários 1100.000 1100000 1 100.000 100 000 1:100.00 recémnascidos. recémnascidos nascidos. nascidos recém-nascidos Acreditase Acredita se Hedgehog ulnar rotineiro recémnascido, nascido, imagem 1100 1100.00 110000 100000 100.00 10 00 1:100.0 110 1100.0 11000 10000 100.0 0 1:100. 11 1100. 1000 100. 1:100 1:10 1:1 1:

ABSTRACT Objective: The objective of this study was to report a case of bilateral ulnar longitudinal deficiency with oligodactyly in a male newborn. Case description: A full-term male newborn, born following an uncomplicated gestation with no abnormalities detected on prenatal ultrasounds, presented upper limb malformations described as shortening of the left forearm and absence of three digits bilaterally upon neonatal physical examination. Diagnostic investigations including X-rays, abdominal ultrasound, head ultrasound, echocardiogram, and karyotype analysis were conducted, facilitating detailed identification of the malformations and exclusion of other anomalies, thereby suggesting the diagnosis of congenital longitudinal deficiency of the ulna. Discharge planning encompassed supportive care and rehabilitation as per the patient’s needs. Comments: Ulnar longitudinal deficiency is a rare congenital upper limb malformation, whose estimated incidence is 1:100,000 newborns. It is believed to be related to the Sonic Hedgehog gene, and the upper limb anomalies vary according to the ulnar involvement. The early diagnosis is not routine, being more common at the first physical examination with the aid of imaging tests. Objective newborn description fullterm full term ultrasounds Xrays, Xrays X rays, rays X-rays ultrasound echocardiogram conducted ulna patients patient s needs Comments malformation 1100,000 1100000 1 100,000 100 000 1:100,00 newborns gene involvement routine tests 1100 1100,00 110000 100000 100,00 10 00 1:100,0 110 1100,0 11000 10000 100,0 0 1:100, 11 1100, 1000 100, 1:100 1:10 1:1 1:

RESUMEN Introducción: La galactosemia clásica es el trastorno genético del metabolismo de la galactosa más severo y de mayor prevalencia a nivel mundial. Es causada por mutaciones en el gen GALT, en el cual se han identificado más de 300 variantes alélicas. En Cuba no se han realizado estudios moleculares para identificar las mutaciones presentes en los pacientes. Objetivo: Identificar variantes alélicas del gen GALT en pacientes cubanos con galactosemia clásica. Métodos: Se aisló el ADN genómico de 29 pacientes por el método de precipitación salina. Se realizó la detección de seis mutaciones mediante la reacción en cadena de la polimerasa-digestión enzimática-electroforesis. La secuenciación del gen GALT se efectuó en diez muestras. Resultados: Por medio de la reacción en cadena de la polimerasa-digestión enzimática-electroforesis se detectaron las mutaciones p.Q188R, p.L195P, p.S135L, p.N314D y p.L218L. Además, se identificaron seis mutaciones mediante la secuenciación, tres en la región exónica: p.F171S, p.T292T y p.H315H; y tres en la intrónica: c.378-27G>C, c.507+62G>A y c.508-24G>A. Conclusiones: Las mutaciones halladas evidencian la heterogeneidad genética alélica de la galactosemia clásica en la población cubana. Este conocimiento puede contribuir a perfeccionar el diagnóstico molecular prenatal y posnatal, el estudio de portadores, y el asesoramiento genético de pacientes y familiares.

ABSTRACT Introduction: Classical galactosemia is the most severe and prevalent genetic disorder of galactose metabolism worldwide. It is caused by mutations in GALT gene, in which more than 300 allelic variants have been identified. No molecular studies have been performed in Cuba to identify the mutations present in patients. Objective: To identify allelic variants of GALT gene in Cuban patients with classical galactosemia. Methods: Genomic DNA was isolated from 29 patients by the salt precipitation method. Six mutations were detected by polymerase chain reaction-enzymatic digestion-electrophoresis. GALT gene sequencing was performed on ten samples. Results: The mutations p.Q188R, p.L195P, p.S135L, p.N314D and p.L218L were detected by polymerase chain reaction-enzymatic digestion-electrophoresis. In addition, six mutations were identified by sequencing, three in the exonic region: p.F171S, p.T292T and p.H315H; and three in the intronic region: c.378-27G>C, c.507+62G>A and c.508-24G>A. Conclusions: The mutations found show the allelic genetic heterogeneity of classical galactosemia in the Cuban population. This knowledge can contribute to improving prenatal and postnatal molecular diagnosis, the study of carriers, and genetic counseling of patients and family members.

Resumen La displasia tanatofórica tipo 2 (DTII) es una enfermedad genética rara e intratable causada por mutaciones de novo en el gen FGFR3, caracterizada por anomalías esqueléticas graves, esta condición es letal durante el período perinatal y tiene una prevalencia de 0,21 a 0,37 casos por cada 10.000 nacimientos. Presentamos un feto masculino con hallazgos ecográficos específicos de DTII, se le realizaron amniocentesis y cordocentesis, las muestras se analizaron mediante secuenciación de próxima generación (NGS), para realizar secuenciación exómica y reacción en cadena de la polimerasa de fluorescencia cuantitativa, se encontró la mutación k650E (p.Lys659glu, A → G) en el gen FGFR3, reportada como patógena. Asimismo, se describe el uso de NGS en ADN fetal libre de células (cffDNA), líquido amniótico y sangre fetal para establecer un diagnóstico de displasia esquelética, lograr un diagnóstico temprano y determinar el pronóstico según el tipo de displasia esquelética y proporcionar información sobre el desenlace del embarazo, ya sea para planificar el parto o elegir la interrupción voluntaria del embarazo, además de realizar asesoramiento genético y reproductivo.

Abstract Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.37 cases for every 10,000 births. We report a male fetus with TDII-specific ultrasound findings. Afterward, amniocentesis and cordocentesis were performed, and samples were analyzed using next-generation sequencing (NGS) to perform exome sequencing and Quantitative Fluorescence Polymerase Chain Reaction, k650E (p.Lys659glu, A→G) mutation was found in the FGFR3 gene, reported as pathogenic. Furthermore, the usage of NGS in cell-free fetal DNA, amniotic fluid, and fetal blood is described to establish a skeletal dysplasia diagnosis, accomplishing an early diagnosis to determine the prognosis according to the type of skeletal dysplasia and provide essential information about the pregnancy outcome, either for planning the delivery method or choosing voluntary interruption of pregnancy, in addition to genetic and reproductive counseling.

Resumen Las anomalías del arco aórtico se adscriben a un grupo de malformaciones poco frecuentes; sin embargo, no es extraño hallarlas como causa de patología respiratoria o digestiva en pacientes adultos. La relación de los grandes vasos con la tráquea en el mediastino alto en el estudio fetal permite un diagnóstico ecográfico relativamente sencillo. De hecho, el corte de tres vasos y tráquea es el eje fundamental sobre el que se apoya el diagnóstico prenatal de este tipo de anomalías. Presentamos dos casos de diagnóstico prenatal de arco aórtico derecho, cuya sospecha se estableció durante la realización de la ecografía morfológica de la semana 20. Del mismo modo, presentamos el seguimiento de las gestantes y el manejo de los sendos hijos al nacer, cuya evolución fue distinta.

Abstract Aortic arch anomalies belong to a group of rare malformations; however, it is not uncommon to find them as a cause of respiratory or digestive pathologies in adult patients. The relationship of the great vessels with the trachea in the upper mediastinum in the fetal study allows a relatively simple ultrasound diagnosis. In fact, the section of three vessels and the trachea is the fundamental axis on which the prenatal diagnosis of this type of anomaly is based. We present two cases of prenatal diagnosis of the right aortic arch, the suspicion of which was established during the 20-week morphological ultrasound. Similarly, we present the follow-up of pregnant women and the management of their children at birth, whose evolution was different.

Resumen Introducción: El análisis de los factores maternos asociados a sífilis congénita, es el primer paso para el control de la transmisión materno infantil Objetivo: Establecer la asociación de los factores maternos con los casos de sífilis congénita presente en niños nacidos de madres con sífilis gestacional de la ciudad de Montería-Colombia. Pacientes y Métodos: Se realizó un estudio de casos y controles, retrospectivo, en el que se incluyeron 147 casos y 294 controles, con fuente secundaria entre los años 2014-2021; se realizó análisis bivariado y multivariado Resultados: El riesgo de sífilis congénita aumenta en los hijos de mujeres gestantes no aseguradas al sistema de salud (ORa 8,996 IC 95% 3,78-21,39), que viven en una zona rural (ORa 2,378 IC 95% 1,37-4,14), que tienen el primer control prenatal después de la semana 16 de gestación (ORa 1,704 IC 95% 1,07-2,70), tienen una sola dosis de penicilina antes del parto (ORa 2,146 IC 95% 1,27-3,62) y con una pareja sexual sin tratamiento (ORa 2,103 IC 95% 1,25-3,53). Conclusiones: El tratamiento adecuado de las mujeres gestantes jóvenes, de zona rural y sus parejas sexuales es fundamental para la prevención de la sífilis congénita. Es primordial el aseguramiento de la mujer gestante al sistema de salud y el diagnóstico oportuno.

Abstract Background: The analysis of maternal factors associated with congenital syphilis, is the first step for the control of mother-to-child transmission Aim: To establish the association of maternal factors with cases of congenital syphilis present in children born to mothers with gestational syphilis in the city of Montería-Colombia. Methods: A retrospective case-control study was conducted in which 147 cases and 294 controls were included, with secondary source between the years 2014-2021. A bivariate and multivariate analysis was performed Results: The risk of congenital syphilis increases in the children of pregnant women not insured by the health system (aOR 8.996 95% CI 3.78-21.39), who live in a rural area (aOR 2.378 95% CI 1.37-4, 14), who have the first prenatal check-up after the 16th week of gestation (aOR 1.704 95% CI 1.07-2.70), have a single dose of penicillin before delivery (aOR 2.146 95% CI 1.27 −3.62) and with a sexual partner without treatment (aOR 2.103 95% CI 1.25-3.53) Conclusions: Adequate treatment of young pregnant women from rural areas and their sexual partners is essential for the prevention of congenital syphilis. The insurance of pregnant women in the health system and timely diagnosis is essential.

Abstract Hydrops fetalis corresponds to the accumulation of fluid in soft tissues and/or body cavities. Hydrops fetalis is classified as immune (IFH) and non-immune (NIFH). NIFH can be secondary to multiple etiologies: aneuploidy, congenital heart disease, and various monogenic disorders. The prenatal exome increases the diagnostic yield by 3-19% in cases of NIFH with normal karyotype and microarray, if isolated or associated with other anomalies, respectively. Aberrant development of the lymphatic system has been associated with more than 20 genetic variants, one of them in the PIEZO1 gene that produces two diseases: hereditary dehydrated stomatocytosis and lymphatic malformation 6, both conditions related to NIFH with similar phenotypes. We report a case of NIFH with normal conventional cytogenetic study in which a prenatal exome study was performed identifying a pathogenic variant in PIEZO1 gene allowing to establish that both conditions have a favorable perinatal prognosis. The prenatal exome study of NIFH with normal karyotype is widely justified, despite its high cost and low accessibility in our setting, to stablish the perinatal prognosis and adequately advise parents in terms of recurrence.

Resumen La hidropesía fetal corresponde a la acumulación de líquido en tejidos blandos y/o cavidades corporales. La hidropesía fetal se clasifica en inmune (HFI) y no inmune (HFNI). La HFNI puede ser secundaria a múltiples causas: aneuploidías, cardiopatías congénitas y diversos trastornos monogénicos que afectan a diversos sistemas. El exoma prenatal aumenta el rendimiento diagnóstico un 3-19% en casos de HFNI con cariotipo y microarreglo normal, si es aislado o está asociado a otras anomalías, respectivamente. El desarrollo anómalo del sistema linfático se ha asociado con más de 20 variantes, una de ellas en el gen PIEZO1 que produce dos enfermedades: estomatocitosis hereditaria deshidratada y la malformación linfática 6, ambas condiciones relacionadas con HFNI con fenotipos similares. Se reporta un caso de HFNI con estudio citogenético convencional normal en que se realiza estudio del exoma prenatal identificando una variante patogénica en gen PIEZO1, permitiendo establecer que ambas condiciones poseen un pronóstico perinatal favorable. El estudio con exoma prenatal de la HFNI con cariotipo normal se justifica ampliamente, a pesar de su alto costo y escasa disponibilidad aún en nuestro medio, para precisar el pronóstico perinatal y asesorar de forma adecuada a los padres en términos de recurrencia.

Abstract Background: The objective of early identification of pregnant women living with HIV is to reduce mother-to-child transmission (MTCT) of HIV. In Colombia, despite the strategies implemented, new cases of infected children still occur. Aim: To characterize newborns exposed to maternal HIV in three reference hospital centers in Cucuta, Colombia; a city with a high prevalence of migrant care. Methods: A retrospective observational study was conducted between 2017-2020 in 3 different medical centers. We included 29 pregnant women with confirmed diagnosis of HIV infection, 34.4% of Venezuelan nationality. Results: In 3/32 exposed neonates HIV were diagnosed with an annual MTCT rate (2017-2020) calculated in the study population of 0%, 14.2%, 8.3%, and 25%, respectively, figures higher than the Pan American Health Organization (PAHO) target (≤ 2%). Absence/deficiency in prenatal controls (55.3%), absence and/or failure of antiretroviral treatment during gestation and late maternal diagnosis (62%) were the main risk factors identified for HIV MTCT. Discussion: The exposed data evidence the public health impact of the increase in the number of pregnant women with HIV/AIDS in the region, taking into account the implications of pediatric HIV. It is imperative to reinforce prevention strategies, diagnosis and early maternal and neonatal treatment, with a special focus on migrant pregnant women.

Resumen Introducción: El objetivo de la identificación temprana de mujeres gestantes viviendo con VIH es la disminución de la transmisión materno infantil (TMI) del virus. En Colombia, pese a las estrategias implementadas, todavía ocurren casos nuevos de niños infectados. Objetivo: Caracterizar a los recién nacidos expuestos al VIH materno en tres centros hospitalarios de referencia en Cúcuta, Colombia; ciudad con alta prevalencia de atención al migrante. Pacientes y Métodos: Se realizó un estudio observacional retrospectivo, comprendido entre 2017-2020 en tres centros hospitalarios de la ciudad. Se incluyeron 29 mujeres gestantes con diagnóstico confirmado de infección por VIH, 34,4% de procedencia venezolana. Resultados: En 3/32 neonatos expuestos, se diagnosticó infección por VIH, con una tasa de TMI anual (2017-2020) calculada en la población estudio de 0%, 14,2%, 8,3% y 25%, respectivamente, cifras mayores a la meta de la Organización Panamericana de la Salud (OPS) (< 2%). La ausencia/deficiencia en los controles prenatales (55,3%), ausencia y/o falla en el tratamiento antirretroviral durante la gestación y el diagnóstico materno tardío (62%) fueron los principales factores de riesgo identificados para TMI del VIH. Discusión: Los datos expuestos evidencian el impacto en materia de salud pública respecto al aumento de casos de mujeres gestantes con infección por VIH/SIDA en la región, teniendo en cuenta las implicaciones de esta infección en pediatría. Es imperativo reforzar las estrategias de prevención, diagnóstico y tratamiento materno y neonatal temprano con enfoque especial en mujeres gestantes migrantes.

Resumen El encefalocele es una malformación congénita del sistema nervioso central rara. Se estima que la prevalencia es de aproximadamente 1 de cada 5,000-40,000 recién nacidos vivos. Puede involucrar diferentes sitios anatómicos como la región occipital, frontal, temporal y parietal. La cuarta y quinta semana del desarrollo embriológico son imprescindibles para el desarrollo de la cabeza y el cuello. Cuando existe un fallo en la separación del ectodermo superficial del neuroectodermo, aparecen defectos del tubo neural, en donde se pueden originar los encefaloceles. Genéticamente se puede explicar por la teoría disembriológica, la cual involucra a ciertos genes mutados que interfieren en mecanismos celulares importantes en el desarrollo neural temprano. Actualmente, gracias a las herramientas de cribado prenatal como la ecografía, es posible identificarlos desde la vida intrauterina. Es sumamente importante realizar un diagnóstico temprano para protocolizar y brindar un tratamiento individualizado, en donde se involucrará a un equipo multidisciplinario. A pesar que algunos casos suelen ser compatibles con la vida, el pronóstico dependerá del sitio anatómico involucrado, así como el manejo quirúrgico oportuno. Entre las secuelas más importantes se encuentra el déficit intelectual.

Abstract Encephalocele is a rare congenital malformation of the central nervous system. The prevalence is estimated to be about 1 in 5,000-40,000 live births. It can affect various anatomical locations such as the occipital, frontal, temporal, and parietal regions. The fourth and fifth weeks of embryonic development are critical for the development of the head and neck. When there is a failure in the separation of the superficial ectoderm from the neuroectoderm, neural tube defects occur, from which encephaloceles may arise. Genetically it can be explained by the dysembryological theory, which involves certain mutated genes that interfere with important cellular mechanisms in early neuronal development. Currently, thanks to prenatal screening tools such as ultrasound, it is possible to identify them from intrauterine life. It is extremely important to make an early diagnosis to establish protocols and provide individualized treatment, involving a multidisciplinary team will be involved. Even though some cases are usually compatible with life, the expected prognosis of the anatomical site involved as well as timely surgical management. One of the most important sequelae is intellectual deficit.

Resumo Os autores apresentam uma seleção de artigos publicados em 2023/2024 e que consideram mais relevantes para a prática clinica em Medicina Materno-Fetal, Tocologia e Diagnóstico Pré Natal.

Abstract The authors present a selection of articles published in 2023/2024 considered as the most relevant for clinical practice in Maternal Fetal Medicine, Tocology and Pre-Natal Diagnosis.

Resumo O Acretismo Placentar (AP), embora incomum, é uma das principais causas de morbimortalidade materna na obstetrícia moderna. É potencialmente fatal, podendo complicar-se com hemorragia obstétrica maciça e choque hemorrágico, frequentemente motivando uma histerectomia periparto. O diagnóstico pré-natal é crucial para otimizar a sua abordagem. Ainda assim, estudos recentes mostram que a maioria dos casos não é diagnosticada até ao parto e que um rastreio sistemático combinando a imagiologia com o perfil clínico da mulher pode aumentar a precisão preditiva diagnóstica. Esta revisão sistemática focou-se na melhor compreensão destes fatores de risco, respondendo à necessidade clínica de uma triagem pré-natal dirigida.

Abstract Placenta Accreta Spectrum (PAS) disorders, though uncommon, are a leading cause of maternal morbimortality in modern obstetrics. They can lead to life-threatening complications, such as massive obstetric hemorrhage and hemorrhagic shock, often needing a peripartum hysterectomy. Prenatal diagnosis is crucial for optimal management and outcomes. Still, recent studies show that most cases remain undiagnosed until delivery. Studies suggest that a systematic screening process incorporating prenatal imaging and risk factors can enhance predictive accuracy. This systematic review focuses on better understanding the clinical risk factors that increase the risk for these disorders, thus answering the clinical need for targeted prenatal screening.

RESUMEN Fundamento: los defectos del sistema nervioso central constituyen anomalías congénitas frecuentes por lo que es necesario un diagnóstico certero para el asesoramiento y manejo oportuno de los casos. La ecografía básica tiene un alcance limitado debido a sus características propias, por lo que se han incluido técnicas ecográficas en el examen prenatal para mejorar la exactitud diagnóstica. Objetivos: describir los hallazgos obtenidos a través de neurosonografía avanzada y comprobar la utilidad de la aplicación de este procedimiento para el diagnóstico. Método: se realizó un estudio observacional, analítico y transversal. Se estudiaron 125 gestantes con sospecha de defectos del sistema nervioso central en las que se emplearon técnicas de neurosonografía avanzada. Se analizaron las siguientes variables: edad de la embarazada en años cumplidos, edad gestacional en semanas y días, provincia de procedencia, región del país, hallazgos ecográficos según defectos congénitos, distinción de estos últimos de acuerdo al grupo y tipo, confirmación del defecto identificado previamente por ecografía básica y aportes de la neurosonografía. Se obtuvieron las frecuencias absolutas y relativas de las distintas categorías; se aplicó una prueba de hipótesis de diferencia de dos proporciones para una muestra con un nivel de significación estadística α= 0,05. Resultados: predominó el grupo etáreo entre 20 y 37 años y las gestantes del segundo trimestre. La mayoría procedió del Occidente del país. La ventriculomegalia predominó como grupo y tipo de defecto congénito. No hubo diferencias significativas en los diagnósticos de ambos niveles de atención. En 44 gestantes la neurosonografía aportó diagnósticos adicionales. Conclusiones: los principales tipos de defectos hallados fueron la dilatación ventricular y la agenesia del cuerpo calloso, agrupados en ventriculomegalia y las anomalías de la línea media. La neurosonografía avanzada ayudó a la precisión diagnóstica de los defectos del sistema nervioso central.

ABSTRACT Foundation: central nervous system defects are common congenital anomalies, so an accurate diagnosis is necessary for timely advice and management of cases. Basic ultrasound has a limited scope due to its own characteristics, so ultrasound techniques have been included in the prenatal examination to improve diagnostic accuracy. Objectives: to describe the findings obtained through advanced neurosonography and to verify the usefulness of applying this procedure for diagnosis. Method: an observational, analytical and cross-sectional study was carried out. 125 pregnant women with suspected central nervous system defects were studied, in whom advanced neurosonography techniques were used. The analyzed variables were: age of the pregnant woman in completed years, gestational age in weeks and days, province of origin, region of the country, ultrasound findings according to congenital defects, distinction of the latter according to group and type, confirmation of the defect previously identified by basic ultrasound and contributions from neurosonography. The absolute and relative frequencies of the different categories were obtained; a hypothesis test of difference of two proportions was applied for a sample with a level of statistical significance α= 0.05. Results: the age group between 20 and 37 years and pregnant women in the second trimester predominated. The majority came from the west part of the country. Ventriculomegaly predominated as a group and type of congenital defect. There were no significant differences in the diagnoses of both levels of care. In 44 pregnant women, neurosonography provided additional diagnoses. Conclusions: the main types of defects found were ventricular dilatation and agenesis of the corpus callosum, grouped into ventriculomegaly and midline anomalies. Advanced neurosonography helped in the diagnostic accuracy of central nervous system defects.

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.

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.