Uso de psicofármacos durante la gestación: necesidad vs seguridad / Use of psychotropic drugs during pregnancy: necessity vs Safety

Resumen La seguridad de los psicofármacos durante el embarazo es un tema crucial en la práctica clínica. En esta revisión, se hace un breve recorrido sobre los cambios en el embarazo que impactan en la farmacodinamia de los medicamentos, además, se analizan los principales grupos farmacológicos en psiquiatría y sus efectos durante el embarazo. Se identifican tres períodos críticos durante el embarazo. El período de las primeras dos semanas se asocia con un mayor riesgo de aborto espontáneo. El período de la segunda a la décima semana es el más riesgoso, ya que pueden ocurrir alteraciones teratogénicas que afectan el desarrollo fetal. El período posterior a la décima semana se caracteriza por alteraciones en el crecimiento y desarrollo funcional del feto, pero suelen ser menos graves. Los antidepresivos, especialmente los inhibidores selectivos de la receptación de serotonina (ISRS) y los antipsicóticos de segunda generación se consideran los más seguros, pero estos últimos pueden estar asociados con síndrome metabólico, cardiopatías congénitas y trastornos del neurodesarrollo. El litio se ha asociado con efectos teratogénicos y malformaciones cardíacas, mientras que el valproato está relacionado con defectos congénitos importantes. Las benzodiacepinas pueden tener efectos tóxicos y causar síndrome de abstinencia en el recién nacido. La seguridad de los psicofármacos durante el embarazo requiere una evaluación individualizada de los beneficios y riesgos. Aunque algunos grupos de psicofármacos se consideran relativamente seguros, es necesario tener precaución y considerar las posibles complicaciones asociadas con su uso durante el embarazo.

Abstract: The safety of psychoactive drugs during pregnancy is a crucial issue in clinical practice. In this review, a brief overview of the changes in pregnancy that impact the pharmacodynamics of drugs is made; in addition, the main pharmacological groups in psychiatry and their effects during pregnancy are analyzed. Three critical periods during pregnancy are identified. The period of the first two weeks is associated with an increased risk of miscarriage. The period from the second to the tenth week is the most at risk , since teratogenic effects that affect fetal development can take place. The period after the tenth week is characterized by alterations in fetal growth and functional development , however ,less severe defects. Antidepressants, especially selective serotonin reuptake inhibitors (SSRIs), and second-generation antipsychotics are considered the safest, but the latter may be associated with metabolic syndrome, congenital heart disease, and neurodevelopmental disorders. Lithium has been associated with teratogenic effects and cardiac malformations, while valproate is associated with major birth defects. Benzodiazepines can have toxic effects and cause Neonatal Withdrawal Syndrome . The safety of psychotropic drugs during pregnancy requires an individualized assesment of the benefits and risks. Although some groups of psychiatric drugs are considered relatively safe, caution is needed when considering the potential complications associated with their use during pregnancy.

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

BACKGROUND: The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic, low-set ears. To date, comparative genomic hybridization has identified this deletion in 38 patients. Consequently, additional patients with comprehensive clinical data are required to fully understand the spectrum of clinical manifestation associated with a deletion in the 2q31 cytoband. CASE PRESENTATION: We present the case of an 8-year-old female patient with clinical features of velocardiofacial syndrome, which include facial dysmorphism, congenital heart disease (persistent truncus arteriosus and ostium secundum-type atrial septal defect), and a seizure syndrome. Array comparative genomic hybridization revealed a non-continous deletion spanning cytobands 2q31.1-to 2q31.3, confirming a diagnosis of 2q31 microdeletion syndrome. The patient has undergone supportive therapies for swallowing and speech. Additionally, we provide a review of the literature on previous cases to give context. CONCLUSION: In this report, we present the first documented case of a complex, discontinuous deletion spanning in the 2q31-2q32 regions. This case contributes to our understanding of the phenotypic and mutational spectrum observed in individuals with deletions in these cytobands. It underscores the significance of employing high-resolution techniques and comprenhensive analysis in diagnosing patients with complex phenotypes. Such approaches are crucial for differentiating this condition from more common microdeletion syndromes, such as the 22q11 deletion syndrome.

[Neonatal screening for critical congenital heart diseases in Peru: an urgent call]. / Tamizaje neonatal de cardiopatías congénitas críticas en el Perú: un llamado de urgencia.

Congenital heart diseases are the most common congenital malformations worldwide and represent one of the leading causes of neonatal death, in addition to the significant use of human and financial resources by health systems. The purpose of this document is to support the implementation of neonatal screening for critical congenital heart diseases using pulse oximetry according to the different geographical altitudes of Peru. This technology is widely used worldwide and has high sensitivity, specificity, and cost-effectiveness. At many latitudes, it has led to better survival in this group of patients and in the neonatal population in general since its use in the early detection of sepsis, pneumonia, and other conditions that affect the oxygenation of the newborn. Neonatal screening for critical congenital heart disease is applicable at all levels of healthcare at a national level, and its implementation must be a priority to improve neonatal health.

[Percutaneous correction of structural congenital heart diseases during the early puerperium. Experience of a center]. / Corrección percutánea de cardiopatías congénitas estructurales durante el puerperio temprano. Experiencia de un centro.

Objetive: Congenital heart diseases (CHD) can be found in pregnant women. Although cardiac interventions in the catheterization laboratory are considered safe and effective, it is preferable to wait 3-6 months after delivery to correct simple, uncomplicated CHD; however, this may result in follow-up losses. The objective is to present our experience in correcting CHD during the early puerperium (EP). Materials and methods: All cases of pregnant women with CHD, including atrial septal defect (ASD), patent ductus arteriosus (PDA), and aortic coarctation (CoA) between 2017-2023, who underwent percutaneous defect correction during the EP were collected. Results: Fifteen pregnant women were included, diagnosed with ASD (5), PDA (6), and CoA (4). Five patients (33.3%) were classified as WHO risk class IV; the procedure was successful in 80% of the cases, and only 1 patient presented complications. Conclusions: In our experience, the closure of uncomplicated congenital defects during the EP did not present major complications and could be a treatment strategy to prevent follow-up losses after delivery in pregnant women with CHD.

[The impact of congenital heart disease on neurodevelopment]. / El impacto de las cardiopatías congénitas en el neurodesarrollo.

It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status. A comprehensive neurodevelopmental assessment in all children with CHD is critical to identify any need for intervention early and provide the support needed to optimize their long-term development.

Se estima que aproximadamente 1 de cada 100 nacidos vivos presenta una cardiopatía congénita (CC). El déficit cognitivo, las dificultades académicas y anomalías conductuales, en combinación, representan la morbilidad más común que afecta la calidad de vida en sobrevivientes con CC. La disfunción del desarrollo resulta de una interacción compleja entre factores específicos del paciente como susceptibilidad genética, tipo de cardiopatía, desarrollo fetal y factores ambientales tales como eventos preoperatorios, técnicas de apoyo durante la reparación quirúrgica, eventos posoperatorios, estatus socioeconómico. Una evaluación integral del neurodesarrollo en todos los niños con CC es fundamental para identificar tempranamente cualquier necesidad de intervención y proporcionar el apoyo necesario para optimizar su desarrollo a largo plazo.

Newborn pulse oximetry screening coverage in a nationwide complex survey sample: An assessment of a congenital heart disease early detection program at the regional level in Brazil.

OBJECTIVES: To estimate the coverage of newborn pulse oximetry screening (POS) in Brazil, as well as identifies associated factors and the proportion of positive screening results. METHODS: Coverage was estimated based on the most recent National Health Survey (2019). Adjusted marginal prevalence ratios were estimated via poisson regression model with robust variance. RESULTS: The POS coverage was 66.3 % (95 %CI: 65.5-67.1; N = 3,140,023) and was higher in children born in privately funded hospitals (PFHs) than in the Unified Health System (SUS): 78.1 % (76.7-79.5) versus 61.1 % (60.2-62.1). In the North region, the POS coverage in PFHs (64.9 %, 59.7-70.1) was lower than that in the South (82.5 %, 79.4-85.6) and the Southeast (81.5 %, 79.3-83.6); it was even lower in SUS in the North (44.0 %; 42.4-45.6). After a federal ordinance providing financial resources to postscreening diagnostic, the screening coverage in SUS increased from 57.6 % (56.2-59.1) to 64.6 % (63.3-65.9). The proportion of positive screening tests was 9.2 % (8.9-9.5) in SUS and 7.8 % (7.3-8.3) in PFHs, of which 40.8 % (40.5-41.1) underwent complementary exams in SUS and 57.2 % (56.7-57.7) in PFHs. In the multivariate model, the main independent predictors of POS were the coverage of other newborn screening tests. CONCLUSIONS: Inequalities were found between major regions and healthcare systems. Government financial incentives have reduced this inequality, although the percentage of postscreening complementary exams remains insufficient and unequal. The main independent predictors of screening prevalence were those related to the organization of health services.

Drenaje venoso anómalo. Vena cava superior izquierda persistente que drena en la aurícula derecha y vena cava superior derecha que drena en la aurícula izquierda: reporte de un caso / Anomalous Venous Drainage. Persistent Left Superior Vena Cava Draining into the Right Atrium and Right Superior Vena Cava Draining into the Left Atrium: Case Report

Introducción: Entre 0,3-0,5% de niños nacidos presentan una vena cava superior izquierda persistente, lo que lo hace una de las malformaciones congénitas más frecuentes del drenaje venoso. El drenaje de esta en la aurícula derecha, además del drenaje de la vena cava superior derecha en la aurícula izquierda, es extremadamente infrecuente. Caso Clínico: Se presenta el caso de un infante de 8 meses asintomático que es llevado a consulta por presentar desaturaciones. El examen físico es normal. El ecocardiograma de contraste con solución salina muestra una vena cava superior izquierda persistente que drena en la aurícula derecha y un retorno anómalo de la vena cava superior derecha. Se realiza una corrección quirúrgica y evoluciona de forma favorable. Conclusión: La presentación en simultáneo de una vena cava superior izquierda persistente que drena en la aurícula derecha y una vena cava derecha que drena en la aurícula izquierda es extremadamente rara. La mayoría de los casos registrados se diagnosticaron de manera incidental en personas adultas al no presentar síntomas.

Introduction: Between 0.3-0.5% of children born have a persistent left superior vena cava, which makes it one of the most frequent congenital malformations of venous drainage. Drainage of this vein into the right atrium, in addition to drainage of the right superior vena cava into the left atrium, is extremely rare. Clinical case: We present a case of an asymptomatic 8-month-old infant who was taken to the clinic for desaturations. Physical examination was normal. The contrast echocardiogram with saline solution showed a persistent left superior vena cava draining into the right atrium and an anomalous return of the right superior vena cava. Surgical correction was performed and the patient evolved favorably. Conclusion: The simultaneous presentation of a persistent left superior vena cava draining into the right atrium and a right superior vena cava draining into the left atrium is extremely rare. Most of the reported cases were diagnosed incidentally in adults in the absence of symptoms.

Neonatal Risk Factors for Pulmonary Vein Stenosis in Infants Born Preterm with Severe Bronchopulmonary Dysplasia.

OBJECTIVE: To evaluate associations between neonatal risk factors and pulmonary vein stenosis (PVS) among infants born preterm with severe bronchopulmonary dysplasia (sBPD). STUDY DESIGN: We performed a case-control study of infants born from 2010 to 2022 at <32 weeks' gestation with sBPD among 46 neonatal intensive care units in the Children's Hospitals Neonatal Consortium. Cases with PVS were matched to controls using epoch of diagnosis (2010-2016; 2017-2022) and hospital. Multivariable logistic regression analyses were utilized to evaluate PVS association with neonatal risk factors. RESULTS: From 10 171 preterm infants with sBPD, we identified 109 cases with PVS and matched those to 327 controls. The prevalence of PVS (1.07%) rose between epochs (0.8% in 2010-2016 to 1.2% in 2017-2022). Relative to controls, infants with PVS were more likely to be <500 g at birth, to be small for gestational age <10th%ile, or have surgical necrotizing enterocolitis, atrial septal defects, or pulmonary hypertension. In multivariable models, these associations persisted, and small for gestational age, surgical necrotizing enterocolitis, atrial septal defects, and pulmonary hypertension were each independently associated with PVS. Among infants on respiratory support at 36 weeks' postmenstrual age, infants with PVS had 4.3-fold higher odds of receiving mechanical ventilation at 36 weeks' postmenstrual age. Infants with PVS also had 3.6-fold higher odds of in-hospital mortality relative to controls. CONCLUSIONS: In a large cohort of preterm infants with sBPD, multiple independent, neonatal risk factors are associated with PVS. These results lay important groundwork for the development of targeted screening to guide the diagnosis and management of PVS in preterm infants with sBPD.

Complete Thoracic Ectopia Cordis in Two Lambs.

Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.

Levels of Plasma Endothelin-1, Circulating Endothelial Cells, Endothelial Progenitor Cells, and Cytokines after Cardiopulmonary Bypass in Children with Congenital Heart Disease: Role of Endothelin-1 Regulation.

Congenital heart disease (CHD) can be complicated by pulmonary arterial hypertension (PAH). Cardiopulmonary bypass (CPB) for corrective surgery may cause endothelial dysfunction, involving endothelin-1 (ET-1), circulating endothelial cells (CECs), and endothelial progenitor cells (EPCs). These markers can gauge disease severity, but their levels in children's peripheral blood still lack consensus for prognostic value. The aim of our study was to investigate changes in ET-1, cytokines, and the absolute numbers (Ɲ) of CECs and EPCs in children 24 h before and 48 h after CPB surgery to identify high-risk patients of complications. A cohort of 56 children was included: 41 cases with CHD-PAH (22 with high pulmonary flow and 19 with low pulmonary flow) and 15 control cases. We observed that Ɲ-CECs increased in both CHD groups and that Ɲ-EPCs decreased in the immediate post-surgical period, and there was a strong negative correlation between ET-1 and CEC before surgery, along with significant changes in ET-1, IL8, IL6, and CEC levels. Our findings support the understanding of endothelial cell precursors' role in endogenous repair and contribute to knowledge about endothelial dysfunction in CHD.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

OBJECTIVE: to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease. RESULTS: seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome. CONCLUSION: this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far.

Muscularization of the chordae tendinea of the mitral anterior papillary muscle.

The chordae tendineae, described as fibro-collagenous structures, support the leaflets of the atrioventricular valves of the heart in various ways. The chordae tendineae are composed of collagen and elastic fibers. They connect to the ventricular side of the valve leaflets' free border and hinder the leaflets from swinging back into the atrial cavity during systole. Mitral valve chordae tendineae have been classified using a variety of classification systems. To our knowledge, we report a variant chordae tendinea that has yet to be described in the literature. The variant, present only on the mitral anterior papillary muscle, did not show the characteristic appearance of the chorda tendineae. Muscular fibers were observed extending from a larger than usual mitral anterior papillary muscle, inserting into the rough zone of the anterior leaflet. Several tendinous primary and secondary true leaflet chordae emerge from the apical portion of the anterior papillary muscle, inserting into the anterior leaflet's free edge and rough zone. Contraction of this muscular chorda during systole could disrupt the mechanics of valvular closure and result in possible regurgitation across the mitral valve. Additionally, this structure may be subject to rupture during myocardial infarction, leading to valvular dysfunction. The developmental connection between the chordae and papillary muscles could explain the anomalous muscularization of the chordae tendineae observed in this case.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

INTRODUCTION: Williams-Beuren syndrome is a contiguous gene syndrome caused by microdeletion of the locus 7q11.23. It is a clinically recognizable condition whose cardinal features include growth deficiency, variable degrees of neurodevelopmental disorders, congenital cardiac defects, outgoing personality, and typical facies. Case Series Presentation: This retrospective study analyzed 38 consecutive patients in a single center for rare diseases, diagnosed by Preus criteria modified by the Sugayama scoring system, comprising 17 male and 21 female individuals aged 1 month to 55 years. Cases were divided into two groups concerning (a) exclusive clinical diagnosis or (b) clinical diagnosis followed by a laboratory cytogenetic or cytogenomic test; except for hypertension, no significant difference was seen among both groups. The most frequent findings were intellectual deficiency, developmental delay, typical facies, and overfriendliness, all above 80% of the total sample. On the other hand, supravalvar aortic stenosis was found in only 32.4%, while other congenital heart diseases were seen in 56.7% of the sample. Unusual features included one individual with 13 pairs of ribs, another with unilateral microphthalmia, and three with unilateral renal agenesis. Comorbidities comprised 9 cases of hypothyroidism and 1 case each of precocious puberty, segmental vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia. CONCLUSION: Preus criteria modified by the Sugayama scoring system are still efficient and helpful for clinical diagnosis. This is the second report on microphthalmia and the first study describing the association between vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia in individuals with Williams-Beuren syndrome.

Factors associated with the indication of neonatal echocardiography in the investigation of congenital heart diseases.

OBJECTIVE: To analyze the factors associated with the indication of echocardiography for the investigation of congenital heart disease among newborns. METHOD: Retrospective sectional study through the collection of 848 medical records of patients admitted to maternity hospitals in Rio de Janeiro-Brazil, respecting the time frame from September to December 2022. RESULTS: The average age of mothers was 26.5±6.3 years; 52.7% were classified as brown. The average age of the newborns was 3.5±5.6 days. Maternal variables: gestational age (OR=6.93, CI:3.76-12.80), number of gestational risk factors (1.90: 1.47-2.45) and number of medications (1. 97: 1.40-2.77); and neonatal variables: age (1.07: 1.03-1.02), prematurity (10.55: 5.29-21.03) and number of risk factors (2.62: 2.03-3 .38) were significantly associated with the indication for echocardiography (p<0.001). CONCLUSION: It is concluded that the different maternal and neonatal variables, gestational age, number of gestational risk factors, number of medications, age, prematurity and number of risk factors, respectively, showed a significant association for the indication of echocardiography. Therefore, the identification of these factors will enable the investigation of congenital heart disease at an opportune time among newborns.

Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications.

Although Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary hypertension-PH) following surgery for congenital cardiac communications, many DS patients do surprising well postoperatively. We prospectively analyzed perioperative factors for a possible correlation with post-cardiopulmonary bypass (CPB) inflammatory reaction and postoperative PH in pediatric subjects. Sixty patients were enrolled (age 3 to 35 months), 39 of them with DS. Clinical and echocardiographic parameters (anatomical and hemodynamic) were computed preoperatively. Pulmonary and systemic mean arterial pressures (PAP and SAP) were assessed invasively intra and postoperatively. Immediate postoperative PAP/SAP ratio (PAP/SAPIPO) and the behavior of pressure curves were selected as primary outcome. Serum levels of 36 inflammatory proteins were measured by chemiluminescence preoperatively and 4 h post CPB. Of all factors analyzed, peripheral oxygen saturation (O2Sat, bedside assessment) was the only preoperative predictor of PAP/SAPIPO at multivariate analysis (p = 0.007). Respective values in non-DS, DS/O2Sat ≥ 95% and DS/O2Sat < 95% subgroups were 0.34 (0.017), 0.40 (0.027) and 0.45 (0.026), mean (SE), p = 0.004. The difference between non-DS and DS groups regarding postoperative PAP curves (upward shift in DS patients, p = 0.015) became nonsignificant (p = 0.114) after adjustment for preoperative O2Sat. Post-CPB levels of at least 5 cytokines were higher in patients with O2Sat < 95% versus those at or above this level, even within the DS group (p < 0.05). Thus, a baseline O2Sat < 95% representing pathophysiological phenomena in the airways and the distal lung, rather than DS in a broad sense, seems to be associated with post-CPB inflammation and postoperative PH in these patients.

Ascending Aortic Progression After Isolated Aortic Valve Replacement Among Patients with Bicuspid and Tricuspid Aortic Valves.

OBJECTIVES: The aims of the present study were to compare the long-term outcomes for ascending aortic dilatation and adverse aortic events after isolated aortic valve replacement between patients with bicuspid aortic valve (BAV) and tricuspid aortic valve ( TAV). METHODS: This retrospective study included 310 patients who had undergone isolated aortic valve replacement with an ascending aorta diameter ≤ 45 mm between January 2010 and September 2021. The patients were divided into BAV group (n=90) and TAV group (n=220). The differences in the dilation rate of the ascending aorta and long-term outcomes were analyzed. RESULTS: Overall survival was 89 ± 4% in the BAV group vs. 75 ± 6% in the TAV group at 10 years postoperatively (P=0.007), yet this difference disappeared after adjusting exclusively for age (P=0.343). The mean annual growth rate of the ascending aorta was similar between the two groups during follow-up (0.5 ± 0.6 mm/year vs. 0.4 ± 0.5 mm/year; P=0.498). Ten-year freedom from adverse aortic events was 98.1% in the BAV group vs. 95.0% in the TAV group (P=0.636). Multivariable analysis revealed preoperative ascending aorta diameter to be a significant predictor of adverse aortic events (hazard ratio: 1.76; 95% confidence interval: 1.33 to 2.38; P<0.001). CONCLUSION: Our study revealed that the long-term survival and the risks of adverse aortic events between BAV and TAV patients were similar after isolated aortic valve replacement. BAV was not a risk factor of adverse aortic events.

Moderate altitude as a risk factor for isolated congenital malformations. Results from a case-control multicenter-multiregional study.

BACKGROUND: Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations. OBJECTIVES: To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors. METHODS: The study consisted of a case-control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10-1433 m) and moderate altitudes (1511-2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation. RESULTS: Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes. CONCLUSIONS: Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.

A remote parent-led early intervention protocol to promote motor development in infants with congenital heart disease: a feasibility pilot study of a randomized clinical trial.

This study evaluated the feasibility of a parent-led, home-based early intervention for motor development in infants with Congenital Heart Disease (CHD), part of a larger multicenter, single-blind randomized controlled trial (ClinicalTrials.gov NCT05907109). Parents, supported by remote specialists weekly, engaged in multidomain stimulation activities five days a week, for six months. Feasibility was assessed via parental questionnaires, adherence rates, and infant motor development assessments. Despite high dropout and mortality rates, results showed 80% adherence, 91% parental satisfaction, 75% availability, and 60% self-efficacy. No significant motor skill differences were noted between the intervention (IG; n = 19) and control groups (CG; n = 11) at six months, but the higher baseline risk in IG suggests promotion of motor skills in the intervention group. Future studies in Brazil might extend the study duration to address high dropout and mortality rates.