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Omphalocele is a malformation of the abdominal wall varying in size and located at the base of the umbilical cord. Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract with an increased prevalence in newborns with congenital malformations of the umbilicus and gastrointestinal tract. The association between Meckel's diverticulum and omphalocele has been described in rare cases. We present the case of a newborn diagnosed with both entities.
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INTRODUCTION: Data from previous studies have demonstrated inconsistency between current evidence and delivery room resuscitation practices in developed countries. The primary aim of this study was to assess the quality of newborn healthcare and resuscitation practices in Portuguese delivery rooms, comparing current practices with the 2021 European Resuscitation Council guidelines. The secondary aim was to compare the consistency of practices between tertiary and non-tertiary centers across Portugal. METHODS: An 87-question survey concerning neonatal care was sent to all physicians registered with the Portuguese Neonatal Society via email. In order to compare practices between centers, participants were divided into two groups: Group A (level III and level IIb centers) and Group B (level IIa and I centers). A descriptive analysis of variables was performed in order to compare the two groups. RESULTS: In total, 130 physicians responded to the survey. Group A included 91 (70%) and Group B 39 (30%) respondents. More than 80% of participants reported the presence of a healthcare professional with basic newborn resuscitation training in all deliveries, essential equipment in the delivery room, such as a resuscitator with a light and heat source, a pulse oximeter, and an O2 blender, and performing delayed cord clamping for all neonates born without complications. Less than 60% reported performing team briefing before deliveries, the presence of electrocardiogram sensors, end-tidal CO2 detector, and continuous positive airway pressure in the delivery room, and monitoring the neonate's temperature. Major differences between groups were found regarding staff attending deliveries, education, equipment, thermal control, umbilical cord management, vital signs monitoring, prophylactic surfactant administration, and the neonate's transportation out of the delivery room. CONCLUSION: Overall, adherence to neonatal resuscitation international guidelines was high among Portuguese physicians. However, differences between guidelines and current practices, as well as between centers with different levels of care, were identified. Areas for improvement include team briefing, ethics, education, available equipment in delivery rooms, temperature control, and airway management. The authors emphasize the importance of continuous education to ensure compliance with the most recent guidelines and ultimately improve neonatal health outcomes.
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Salas de Parto , Resucitación , Humanos , Estudios Transversales , Portugal , Recién Nacido , Resucitación/normas , Resucitación/educación , Salas de Parto/normas , Pautas de la Práctica en Medicina/estadística & datos numéricos , Femenino , Masculino , Adulto , Guías de Práctica Clínica como AsuntoRESUMEN
BACKGROUND: Polycythemia is a disorder with several causes and risk factors. The clinical presentation is variable, ranging from asymptomatic newborns to cases with severe physiological changes. The aim of this study was to assess the prevalence, risk factors and predictors of severity of polycythemia in a Portuguese level III Neonatal Intensive Care Unit (NICU). METHODS: Case-control study of all term newborns with the diagnosis of polycythemia admitted to the NICU of the São João Universitary Hospital Center, Porto, Portugal, from January 1, 1999 to December 31, 2019; and who met one of the following inclusion criteria were eligible for the study: 1) Hct>65% or Hb>22 g/dL; and 2) Hb≥21 g/dL with clinical manifestations of polycythemia. RESULTS: A total of 53 newborns fulfilled the inclusion criteria and were included in the study, corresponding to a prevalence of 0.57%. Birth outside the hospital was the only risk factor with statistical significance. Of 53 cases, 51 (96.23%) had symptomatic polycythemia. The most frequent symptoms were: hyperbilirubinemia (69.81%), hypoglycemia (52.83%), thrombocytopenia (50.94%), cardiorespiratory (33.96%), and neurological symptoms (33.96%). Of the 53 newborns evaluated, 41 (77.36%) needed treatment. The only risk factors that influenced the hematocrit value were maternal diabetes and fetal growth restriction. CONCLUSIONS: The best way to improve the prognosis of polycythemia is to identify the risk factors present throughout pregnancy and make an early diagnosis and treatment. Out-of-hospital births should be avoided. The diagnosis should not be excluded, even if hemoglobin and hematocrit are within normal limits.
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Enfermedades del Recién Nacido , Policitemia , Embarazo , Femenino , Humanos , Recién Nacido , Policitemia/diagnóstico , Policitemia/epidemiología , Policitemia/etiología , Estudios de Casos y Controles , Prevalencia , Hematócrito , Enfermedades del Recién Nacido/epidemiología , Hemoglobinas , Factores de RiesgoRESUMEN
Nontraumatic congenital neonatal skull depression is a rare condition resulting from external forces shaping the fetal skull. Typically, newborns are asymptomatic, and, usually, the condition resolves in a few months with no need for intervention. However, many newborns undergo a CT scan, an ionizing technique, to check for fractures or intracranial lesions. We report a case of congenital skull depression without neurological deficits, managed conservatively through clinical monitoring and ultrasound.
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BACKGROUND: Recent studies suggest that some hematological parameters and ratios provided by blood count collected on the first day of life may be predictors for the development of retinopathy of prematurity (ROP). The aims of this study were to assess whether hematological parameters and ratios in blood count collected on the first day of life are associated with ROP. METHODS: Retrospective data collection from electronic clinical files of inborn preterm infants with a gestational age of less than 30 weeks delivered from January 2008 to December 2022, in a level III Neonatal Intensive Care Unit (NICU). We collected detailed clinical and demographic data on the mother, pregnancy, mode of delivery, resuscitation, in-hospital neonatal morbidity, pathological examination of the placenta, and hematological parameters and ratios provided by blood count collected on the first day of life. We compared neonates with or without ROP and performed a subgroup analysis on patients with ROP≥2. RESULTS: We included 140 preterm infants with ophthalmic examination; 81(57.9%) developed ROP. The need for platelet transfusions (OR=5.28; 95% CI: 1.31-21.21; P=0.019) and bronchopulmonary dysplasia (BPD) (OR=5.12; 95% CI: 1.14-22.98; P=0.033) were independent risk factors for ROP. In the multivariate analysis, no associations were found between any of the hematological parameters or ratios studied and ROP. CONCLUSIONS: In our study, hematological parameters and ratios on the first day of life were not associated with the development of ROP. However, thrombocytopenia that required platelet transfusions was associated with ROP development and severity.
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BACKGROUND: Despite recent improvements, premature infants remain at high risk for long-term morbidity and poorer neurodevelopment, particularly very preterm (VP) and very low birth weight (VLBW). The aim of this study was to describe neurodevelopmental outcomes at two years and identify potential predictors of worse performance. METHODS: In a retrospective cohort, a two-years' neurodevelopmental evaluation was analyzed. Multivariable regressions were used to study the association of perinatal history with neurodevelopmental outcomes. Subjects included VP and/or VLBW born at a Portuguese III-level perinatal center between 2011-2017. Milestones outcomes were assessed using the Griffiths' Mental Development Scales. RESULTS: One hundred seventy-seven infants were included. Two-years milestones were not achieved in 18.6% in language domain and 7.3% in motor function, 4.5% wore glasses and 1.1% auditory prosthesis/cochlear implant. Almost 30% needed intervention, 18.6% occupational therapy, 16.4% physiotherapy and 13.6% speech therapy. Griffiths' Mental Development Scales was performed in 139, with a mean global quotient of 98.3 and hearing/speech as the least quoted scale. Global development delay (GDD) was present in 14.8% and cerebral palsy in 2.8%. Multivariate analysis by logistic regression adjusted to gestational age, birth weight and confounding variables, revealed a statistically significant association between GDD and hydrocephalus with shunt/reservoir (OR:19.01), retinopathy of prematurity stage ≥2 (OR:7.86) and neonatal sepsis (OR:3.34). CONCLUSIONS: Consistent with recent studies, preterm are at increased risk of neurodevelopmental impairment, mainly due to GDD and language delay, rather than cerebral palsy. In this population, hydrocephalus, retinopathy of prematurity and neonatal sepsis were strongly associated with poorer outcomes. Insight into these factors is essential to refer patients for specific early intervention programs.
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Platelet transfusions (PTx) are the principal approach for treating neonatal thrombocytopenia, a common hematological abnormality affecting neonates, particularly preterm infants. However, evidence about the outcomes associated with PTx and whether they provide clinical benefit or harm is lacking. The aim of this systematic review and meta-analysis is to assess the association between PTx in preterm infants and mortality, major bleeding, sepsis, and necrotizing enterocolitis (NEC) in comparison to not transfusing or using different platelet count thresholds for transfusion. A broad electronic search in three databases was performed in December 2022. We included randomized controlled trials, and cohort and case control studies of preterm infants with thrombocytopenia that (i) compared treatment with platelet transfusion vs. no platelet transfusion, (ii) assessed the platelet count threshold for PTx, or (iii) compared single to multiple PTx. We conducted a meta-analysis to assess the association between PTx and mortality, intraventricular hemorrhage (IVH), sepsis, and NEC and, in the presence of substantial heterogeneity, leave-one-out sensitivity analysis was performed. We screened 625 abstracts and 50 full texts and identified 18 reports of 13 eligible studies. The qualitative analysis of the included studies revealed controversial results as several studies showed an association between PTx in preterm infants and a higher risk of mortality, major bleeding, sepsis, and NEC, while others did not present a significant relationship. The meta-analysis results suggest a significant association between PTx and mortality (RR 2.4, 95% CI 1.8-3.4; p < 0.0001), as well as sepsis (RR 4.5, 95% CI 3.7-5.6; p < 0.0001), after a leave-one-out sensitivity analysis. There was also found a significant correlation between PTx and NEC (RR 5.2, 95% CI 3.3-8.3; p < 0.0001). As we were not able to reduce heterogeneity in the assessment of the relationship between PTx and IVH, no conclusion could be taken. Conclusion: Platelet transfusions in preterm infants are associated to a higher risk of death, sepsis, and NEC and, possibly, to a higher incidence of IVH. Further studies are needed to confirm these associations, namely between PTx and IVH, and to define the threshold from which PTx should be given with less harm effect. What is Known: ⢠Platelet transfusions are given to preterm infants with thrombocytopenia either to treat bleeding or to prevent hemorrhage. ⢠Lack of consensual criteria for transfusion. What is New: ⢠A significant association between platelet transfusions and mortality, sepsis, and NEC.
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Enterocolitis Necrotizante , Sepsis , Trombocitopenia , Recién Nacido , Humanos , Recien Nacido Prematuro , Hemorragia/etiología , Hemorragia/terapia , Enterocolitis Necrotizante/complicaciones , Trombocitopenia/terapia , Trombocitopenia/complicaciones , Sepsis/terapia , Sepsis/complicacionesRESUMEN
BACKGROUND: Thrombocytopenia is a common hematological disorder seen in the neonatal period, especially in newborns admitted to the Neonatal Intensive Care Unit (NICU). The clinical and laboratorial presentation is heterogeneous, with different underlying causes and risk factors. There are still few studies about some possible risk factors and their influence on the newborn's clinical outcome. The aim of this study was to assess the prevalence, risk factors and predictors of severity of thrombocytopenia in a level III NICU. METHODS: The present analysis was the retrospective study of newborns with thrombocytopenia (platelet count less than 150×109/L) admitted from January 1, 2008, to December 31, 2017. Patients included newborns admitted after the first 72 hours of life and those with thrombocytopenia related to surgical intervention were excluded. RESULTS: Out of 187 neonates with thrombocytopenia, a total of 134 neonates were included in the study, corresponding to a prevalence of 3.3%. One hundred fourteen (85%) neonates had an early onset presentation (EOT), and 20 (15%) neonates had a late onset presentation (LOT); 68 (50.7%) neonates had severe and 66 (49.3%) had non-severe thrombocytopenia. Sepsis was identified as an independent predictor of LOT. Sepsis by gram-negative bacteria was identified as an independent predictor for severe thrombocytopenia. CONCLUSIONS: Identification of risk factors, early diagnosis and treatment of the underlying causes are crucial for a better approach of neonatal thrombocytopenia. A strong association between sepsis and sepsis by gram-negative bacteria with LOT and severe thrombocytopenia, respectively, enhances the importance of nosocomial sepsis control in NICU.
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BACKGROUND: Some studies have shown increased risk for neonatal morbidity and mortality with increasing maternal age. The aim of this study was to assess the influence of a maternal age of 35 years, and older, on the neonatal morbidities and mortality of very preterm infants. METHODS: Obstetrical and neonatal data on mothers and preterm infants with gestational age 24 to 30 weeks, born during 2015 and 2016 after a surveilled pregnancy at 11 Portuguese level III centers were analyzed according to a mother's age <35 years versus ≥35. Statistical analysis was performed using IBM SPSS statistics 23 (IBM, Armonk, NY, USA) and a P value <0.05 was considered significant. RESULTS: A total of 415 mothers and 499 infants were included; 340 (68.1%) infants were delivered to mothers <35 years old and 159 (31.9%) to mothers ≥35. There were no differences in birthweight, gestational age and gender in both groups of preterm infants. Rupture of membranes over 18 hours and chronic hypertension with superimposed preeclampsia were significantly more frequent in mothers ≥35 years. Cystic periventricular leukomalacia (cPVL) assessed by cranial ultrasound was significantly more prevalent in infants delivered to mothers ≥35 years. The multivariate analysis by logistic regression revealed an association between cPVL and a maternal age ≥35 years (OR=2.34, 95% CI: 1.20-4.54; P=0.012). CONCLUSIONS: Our study revealed a significant association between a maternal age ≥35 years and echographic cPVL in preterm infants below 30 weeks of gestational age.
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BACKGROUND: Neonatal morbidity and mortality differ between very preterm infants that result from single and those that result from a multiple order pregnancy. The aim of our study was to assess and compare the neonatal morbidity and mortality of multiple versus single very preterm infants. METHODS: Obstetrical and neonatal data on mothers and preterm infants with gestational ages between 24 and 30 weeks, born during 2015 and 2016 at 11 level III perinatal centers after a surveilled pregnancy, were analyzed and compared. Statistical analysis was performed using IBM SPSS® statistics 25 and a p-value < 0.05 was considered statistically significant. RESULTS: A total of 494 infants delivered from 410 women were enrolled in the study; 320 (64.8%) infants resulted from single gestation and 174 (35.2%) resulted from multiple order gestation (153 double, 21 triple). Multiples were associated with a higher maternal age, a greater use of medically assisted reproduction techniques, higher C-section rates, more frequent full cycle use of antenatal corticosteroids, higher gestational age with adequate birth weight, spent less days on oxygen therapy, presented less prevalence of BPD and cPVL, needed less surgical closure of PDA and had a lower length of stay in NICU. Abruptio placenta, hypertensive disorders of pregnancy and preeclampsia were more frequent in single pregnancies. The multivariate analysis by logistic regression adjusted to gestational age and confounding variables did not show any significant difference on the outcomes of multiples compared to singles. CONCLUSIONS: The results of our study support the scientific evidence that, with the current practices, the neonatal morbidity and mortality of very premature infants are not different between those resulting from single and multiple gestations.
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No disponible
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Humanos , Embarazo , Recién Nacido , Adulto , Perforación Corneal/diagnóstico por imagen , Perforación Corneal/diagnóstico , Perforación Corneal/tratamiento farmacológico , Parto , Cesárea , Servicios Médicos de UrgenciaRESUMEN
BACKGROUND: Extrauterine growth restriction (EUGR) remains a serious problem among very low birth weight (VLBW) infants and is a marker of severe nutritional deficit during the first weeks of life. It can lead to a higher risk of growth impairment during childhood and long-term medical problems. The aim of this study is to determine the prevalence and risk factors of EUGR in preterm infants below 1500 grams. METHODS: Descriptive retrospective study of all preterm infants with birth weight below 1500 grams who were born at and discharged from our center, from January 1st, 2012 to December 31st, 2016. Those with major congenital malformations, congenital TORCH infections, death before 36 weeks of postmenstrual age and those transferred during hospitalization were excluded. RESULTS: A total of 101 VLBW newborns were studied, 35 (34.7%) had EUGR. Fifty-four (52.9%) newborns were male. The median gestational age was 29 weeks (25-35) and the median birth weight was 1205 grams (580-1500). Fetal growth restriction, moderate-severe bronchopulmonary dysplasia, invasive mechanical ventilation, patent ductus arteriosus and its surgical treatment, retinopathy of prematurity, cystic periventricular leukomalacia, anemia requiring red blood cells transfusions, as well as duration of parenteral nutrition, day of start of enteral nutrition (EN), day of achievement of full EN and a longer duration of hospitalization were identified as independent risk factors for EUGR. CONCLUSIONS: EUGR is a serious concern in neonatal intensive care. Some of its potential long-term consequences include a higher risk of growth impairment during childhood, poorer neurodevelopment and motor outcomes, as well as cardiovascular disease and type II diabetes later in life. Therefore, it is necessary to carefully assess the nutritional status of VLBW infants, as well as to increase the knowledge of the risk factors for EUGR, which will be crucial for its prevention.
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Diabetes Mellitus Tipo 2 , Unidades de Cuidado Intensivo Neonatal , Lactante , Femenino , Recién Nacido , Masculino , Humanos , Recien Nacido Prematuro , Estudios Retrospectivos , Alta del Paciente , Peso al Nacer , Recién Nacido de muy Bajo PesoRESUMEN
INTRODUCTION: Patent ductus arteriosus (PDA) in preterm infants has been associated with increased mortality and comorbidities. This study aimed to characterize the population of preterm infants diagnosed with PDA and to identify predictive factors of response to medical treatment of PDA. METHODS: An eight-year retrospective observational study was carried out, which included all preterm infants with a gestational age (GA) between 23 and 32 weeks diagnosed with PDA, admitted to the Neonatal Unit of the CHUSJ. Univariate comparative analysis was performed, and models for predicting the effectiveness of PDA treatment with ibuprofen were explored by multivariate logistic regression analysis. RESULTS: 115 cases were included and 34 were excluded, with a final sample of 81 preterm infants with PDA. The univariate analysis revealed significant differences in the closure efficacy via medical treatment with ibuprofen in several variables, and a multivariate logistic regression model was obtained (discriminative capacity 72.2%, sensitivity 98.1%, specificity 57.1%), taking into account the effect of GA, type of delivery, need for diuretics treatment and platelet transfusion. CONCLUSION: This study enabled the population of preterm infants diagnosed with PDA to be characterized and the identification of a predictive model that can help predict the efficacy of medical treatment and thus contribute to optimizing the medical approach to the non-responders.
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Acute kidney injury (AKI) is classified based on prerenal, intrinsic, and postrenal causes. In the newborn, AKI can occur after an insult during the prenatal, perinatal, or postnatal period. AKI is usually an underrecognized condition and its true incidence is unknown. AKI may result from the administration of a number of different nephrotoxic medications, which are often used concurrently in critically ill neonates, exponentially increasing the risk of renal injury. Drug toxicity may also compromise the formation and development of nephrons, and this is particularly important in preterm infants, who have incomplete nephrogenesis. Little is known about the pharmacokinetics and pharmacodynamics of different medications used in neonates, especially for the most immature infant, and the use of most medications in this population is off label. Strategies to prevent AKI include the avoidance of hypotension, hypovolemia, fluid imbalances, hypoxia, and sepsis as well as judicious use of nephrotoxic medications. Treatment strategies aim to maintain fluids and electrolytic and acid-base homeostasis, along with an adequate nutritional status. Neonates are especially prone to long-term sequelae of AKI and benefit from long-term follow-up. This review summarizes the most relevant aspects of nephrotoxicity in neonates and describes the prevention, treatment, and follow-up of AKI in neonates.
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Lesión Renal Aguda , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Lesión Renal Aguda/inducido químicamente , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/prevención & control , Femenino , Humanos , Incidencia , Recién Nacido , Recien Nacido Prematuro , Riñón , EmbarazoRESUMEN
The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.
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BACKGROUND: Extremely low birth-weight (ELBW) preterm infants remain at high risk for mortality and major morbidities, and nearly all need packed red blood cell transfusions within their first weeks of life. The overall objective of this study was to assess the association between anemia at admission to neonatal intensive care unit (NICU) with the neonatal morbidity and mortality in ELBW infants. METHODS: This retrospective study was conducted on 106 patients with ELBW admitted at our level III NICU from January 2006 to December 2015. The subjects were divided into two groups: (1) patients with anemia at admission and (2) patients without anemia. Their characteristics and outcomes were compared. Statistical analysis was performed using the Statistical Package for the Social Sciences software, version 24.0 (IBM New York, USA), and a value of p < 0.05 was considered statistically significant. RESULTS: Of the 106 ELBW, 34 (32%) presented with anemia at admission and 72 (68%) without anemia. Anemia-naive presented mean hemoglobin at the admission of 12.8 ± 1.5 g/dl and nonanemic 16.8 ± 2.1 g/dl, p < .001). The anemic group presented a lower gestational age (26 ± 2 vs. 27 ± 2 SD weeks, p = .025), greater need for inotropic support (52.9 vs. 31.9%, p = .041), longer period of invasive mechanical ventilation (9 vs. 2 days, p = .012), higher FiO2 need (0.8 vs. 0.4, p < .001), more frequent hemodynamically significant patent ductus arteriosus (HS-PDA) (64.7 vs. 41.7%, p = .006) and severe intra-periventricular hemorrhage (IPVH) (41.2 vs. 16.7%, p = 0.005). The multivariate analysis confirmed an association between anemia at admission and HS-PDA (OR = 3.2; 95% CI: 1.1-9.5, p = 0.044) and severe IPVH (OR = 3.3; 95% CI: 1.0-9.9, p = .038). In anemic infants, ionotropic support and IPVH >2 were considered independent factors for mortality. CONCLUSION: In this ELBW series, the presence of anemia at admission to the NICU was associated with HS-PDA and severe IPVH. Preventive strategies for early anemia must be encouraged.
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Anemia , Conducto Arterioso Permeable , Anemia/epidemiología , Humanos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Recien Nacido Prematuro , Morbilidad , Estudios RetrospectivosRESUMEN
BACKGROUND: Intrauterine growth restriction (IUGR) is caused by fetal growth below what is normal for its genetic potential. Recent studies have shown a distinct association between changes in umbilical artery flow in IUGR subjects and an increased risk of respiratory morbidity and consequently, higher mortality. The aim of this study was to find the impact of IUGR on the respiratory outcomes of premature neonates born with less than 32 weeks gestational age. METHODS: This retrospective cohort study targeted infants born with less than 32 weeks of gestation, admitted at NCIU, between January 2010 and December 2016. Each selected IUGR case was matched according to gestational age and sex with an appropriate birthweight newborn at a 1:2 ratio, within a 12-month period. RESULTS: The study involved 126 neonates, 42 with IUGR, and 84 control subjects. IUGR was not identified as a predictor of Bronchopulmonary Dysplasia (BDP) (OR 4.80, 95% CI: 1.14-20.21, P=0.033). Abnormal umbilical artery flow (OR 4.80, 95% CI: 1.14-20.21, P=0.033) and late onset sepsis (OR 3.31, 95% CI: 1.04-10.56, P=0.044) were significantly associated with BDP. CONCLUSIONS: It is essential to recognize changes in the umbilical artery flow, especially in high-risk pregnancies such as IUGR, since these represent an a priori risk marker for the development of BDP. The individual and combined effect of IUGR, alterations on umbilical artery flow and extreme prematurity has not yet been completely clarified on the impact on lung morbidity, requiring a larger number of studies.
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Retardo del Crecimiento Fetal , Arterias Umbilicales , Peso al Nacer , Femenino , Retardo del Crecimiento Fetal/epidemiología , Edad Gestacional , Humanos , Lactante , Recién Nacido , Embarazo , Estudios RetrospectivosRESUMEN
INTRODUCTION: The early neonatal period is the most critical for the newborn's life. The autopsy is important to understand the cause of death, and find other diagnoses not clinically identified. However, the rate of neonatal autopsy is declining worldwide. This study aims to characterize early neonatal death and the clinical importance of the autopsy, evaluating the concordance between clinical and pathological diagnosis. MATERIAL AND METHODS: Retrospective study of the clinical records of all neonates admitted to a level III Neonatal Intensive Care unit in Portugal who died during the first week of life in 10 consecutive years (2008 - 2017). In order to classify the concordance found between clinical and pathological diagnoses, the modified Goldman classification was used. RESULTS: During the first week of life, 76 newborns died. The main causes of death were complications related with prematurity and congenital malformations. The autopsy was performed in 50 newborns. Additional findings were found in 62% of the cases, and in 12% findings with important implications for genetic counseling of future pregnancies. There was concordance between the clinical and pathological findings in 38% of cases. DISCUSSION: An autopsy was performed more frequently in newborns with greater gestational age. The number of additional diagnoses found at autopsy, including diagnoses with implications for genetic counseling, confirm the importance of performing them. CONCLUSION: An autopsy should be proposed to all parents after early neonatal death, given its importance in clarifying the cause of death.
Introdução: O período neonatal precoce é o mais crítico para a vida do recém-nascido. A autópsia é importante para compreender acausa de morte e conhecer outros diagnósticos não identificados clinicamente. No entanto, a taxa de autópsia neonatal está a diminuir em todo o mundo. Este estudo pretende caracterizar a morte neonatal precoce e a importância clínica da autópsia, avaliando a concordância entre o diagnóstico clínico e o anatomopatológico.Material e Métodos: Estudo retrospetivo dos processos clínicos de todos recém-nascidos admitidos numa unidade de CuidadosIntensivos Neonatais de nível III em Portugal e que faleceram durante a primeira semana de vida em 10 anos consecutivos (2008 - 2017). Para classificar a concordância encontrada entre os diagnósticos clínicos e anatomopatológicos foi usada a classificação de Goldman modificada.Resultados: Na primeira semana de vida faleceram 76 recém-nascidos. As principais causas de morte foram complicações relacionadas com prematuridade e anomalias congénitas. A autópsia foi realizada em 50 (65,8%) recém-nascidos. Achados adicionais foram encontrados em 62% dos casos, sendo em 12% achados com implicações importantes no aconselhamento genético de futuras gestações. A concordância entre os achados clínicos e anatomopatológicos foi de 38% dos casos.Discussão: A autópsia foi realizada com maior frequência em recém-nascidos com maior idade gestacional. O número de diagnósticos adicionais encontrados na autópsia, incluindo diagnósticos com implicações para aconselhamento genético, confirmam a importância da sua realização.Conclusão: A autópsia deve ser proposta a todos os pais após a morte neonatal precoce, dada a sua importância no esclarecimento da causa de morte.
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Autopsia , Causas de Muerte , Muerte Perinatal , Femenino , Humanos , Recién Nacido , Masculino , Portugal , Estudios RetrospectivosRESUMEN
Tetralogy of Fallot (ToF) is the most prevalent cyanotic congenital heart disease. Genetic syndromes are present in up to one quarter of patients with this condition, leading to increased morbidity and mortality. Our aim in this work is to characterize our population, evaluate ToF based on the presence of genotype anomalies, and investigate early intervention predictors and outcomes. A retrospective study was performed on neonates with ToF born between August 1, 2008, and August 31, 2018, and admitted to a level III neonatal intensive care unit (NICU). Patients were categorized based on the presence of genotype anomalies and timing of intervention. Thirty-nine neonates were included. The overall mortality during the follow-up period was 5.1% (n = 2). Threatened preterm labor/preterm labor was more prevalent in patients with associated genotype anomalies (p = 0.015). Multivariate analysis showed an association between an abnormal amount of amniotic fluid and ToF with altered genotype, adjusted for smoking, maternal age, gestational age and birth weight [OR = 29.92, 95% CI (1.35-662.44), p = 0.032]. We also found an association between cesarean delivery and neonatal procedures (p = 0.006). Mortality was significantly higher in neonates who underwent early intervention (p = 0.038). Our results indicate that an abnormal amount of amniotic fluid is an independent predictive factor for ToF with genotype alterations. This finding could ultimately have an impact on both prenatal and neonatal counseling and management.