Abstract Introduction: Congenital cytomegalovirus (CMV) infection is the main cause of sensorineural deafness in children. In Portugal, routine screening of the infection during pregnancy is not performed. It is acknowledged that late sequelae may occur in children with congenital infections, even when they are asymptomatic at birth. The aim of this study was to investigate early and late sequelae in children of mothers with positive CMV immunoglobulin (Ig) M and IgG during pregnancy. Materials and Methods: Patients: Children born to mothers with positive CMV IgM and IgG during pregnancy at a Portuguese tertiary hospital between August 2006 and August 2020. Demographic, clinical, and laboratory variables and early and late sequelae were retrospectively assessed. Late sequelae included delayed psychomotor development, sensorineural deafness, and vision changes. Results: In the last 14 years, 31 newborns were born to mothers with positive IgM and IgG during pregnancy in the considered hospital (0.08% of the total number of births). CMV infection was confirmed in six of these children (19.4%), of whom one was symptomatic at birth, with multiorgan involvement, and died at the age of four months. Late sequelae were observed in one patient, specifically learning disabilities and attention-deficit/hyperactivity disorder. No cases of ophthalmological or otorhinolaryngological alterations were identified. Discussion: Although congenital CMV infection is a potentially fatal condition, only one death was reported in the present study sample. Late sequelae were also only observed in one case, which was asymptomatic at birth. Conclusion: These results suggest that the indications for CMV screening during the neonatal period should be reassessed. This is particularly important in asymptomatic newborns, as a way to implement early treatment and prevent late sequelae.

Resumo Introdução: A infeção congénita por citomegalovírus (CMV) é a principal causa de surdez neurossensorial na infância. Em Portugal, o rastreio na grávida não é realizado por rotina. Sabe-se que podem ocorrer sequelas tardias em crianças com infeção congénita, mesmo quando são assintomáticas ao nascimento. O objetivo deste estudo foi investigar a ocorrência de sequelas precoces e tardias em crianças com mães com imunoglobulina (Ig)M e IgG positiva para CMV durante a gravidez. Materiais e Métodos: Participantes: Crianças nascidas de mães com IgM e IgG positiva para CMV durante a gestação num hospital terciário português entre agosto de 2006 e agosto de 2020. Foram retrospetivamente avaliadas variáveis demográficas, clínicas e laboratoriais, bem como sequelas precoces e tardias. Foram consideradas sequelas tardias atraso no desenvolvimento psicomotor, surdez neurossensorial e alterações da visão. Resultados: Nos últimos 14 anos, foram identificados no hospital considerado 31 casos de recém-nascidos de mães com IgM e IgG positiva para CMV na gravidez (0,08% do número total de nascimentos). Entre estes, foram confirmados seis casos (19,4%) de infeção por CMV, um dos quais sintomático ao nascimento, com envolvimento de múltiplos órgãos, e óbito aos quatro meses. Foram observadas sequelas tardias num único caso, concretamente perturbação do desenvolvimento intelectual e perturbação de hiperatividade e défice de atenção. Não foram identificados casos de alterações oftalmológicas ou otorrinolaringológicas. Discussão: Embora a infeção congénita por CMV seja uma condição potencialmente fatal, apenas um óbito foi registado no presente estudo. Foi também observado um único caso de sequelas tardias num recém-nascido assintomático ao nascimento. Conclusão: Estes resultados sugerem que pode ser necessário reavaliar as indicações para rastreio de CMV no período neonatal. Esse rastreio pode ser particularmente relevante em recém-nascidos assintomáticos, para prevenção de sequelas tardias através da instituição de tratamento precoce.

Abstract Background: Congenital heart disease is the leading cause of mortality among all congenital malformations. Objectives: To evaluate the incidence of congenital heart diseases in a central maternity hospital in Portugal from January 2003 to December 2018 and to determine survival in the first year of life. Methods: Retrospective analysis of newborns diagnosed with congenital heart diseases within 72 hours after birth. Malformations were divided according to pathophysiology. Cumulative survival analysis was performed by the Kaplan-Meier test. Stastical significance was set at p <0.05. Results: A total of 297 newborns with cardiac malformation was recorded among 47,198 live births (incidence of 6:1000), 16% associated with extra-cardiac disease. The most frequent congenital heart diseases were left-to-right shunt lesions (n = 216), followed by cyanotic (n = 41), acyanotic obstructive (n = 31) and miscellaneous (n = 9). Seventy (24%) patients had prenatal diagnosis, 88% of them cyanotic defects, and a positive association was found between prenatal diagnosis and mortality (p <0.001). Coarctation of the aorta was associated with gestational diabetes (p = 0.014). Atrial septal defect was more common in females (p = 0.02). Mortality rate due to heart disease was 3.4%. Patients with cyanotic disease, 99%, 97%, 97%, respectively, for patients with left-to-right shunt lesions, and 97%, 97%,97% for those with obstructive lesion cases. Conclusion: The incidence of congenital heart disease was 6:1000, mostly left-to-right shunt lesions. Heart disease accounted for only half of deaths, and cyanotic diseases have a high nonspecific mortality rate.

RESUMO Objetivo: Caraterizar o número e métodos de fechamento de canal arterial durante 16 anos numa maternidade de nível terciário. Métodos: Estudo retrospetivo de nascidos entre 01 de janeiro de 2003 a 31 de dezembro de 2018 submetidos a fechamento do canal arterial por métodos farmacológico, cirúrgico e/ou percutâneo. Avaliaram-se idade gestacional, sexo, peso ao nascimento, número de fechamentos por ano e método utilizado. Aferiram-se as taxas de sucesso de método farmacológico e de mortalidade e sua associação com peso ao nascer, fármaco utilizado e insucesso do fechamento. Resultados: Verificaram-se 47.198 recém-nascidos, 5.156 prematuros, dos quais 325 com canal arterial patente, sendo 106 com indicação para fechamento (idade gestacional mediana 27 semanas, peso <1000 g em 61%). Verificou-se diminuição do número de fechamentos ao longo dos anos, sobretudo a partir de 2010. O fechamento ocorreu em 62% após primeiro ciclo de tratamento farmacológico e em 74% após segundo. Após insucesso farmacológico, 12 realizaram ligadura cirúrgica e dois, fechamento percutâneo. Houve indicação de ligadura cirúrgica exclusiva em quatro. O ibuprofeno substituiu a indometacina em 2010. O acetaminofen foi usado em três doentes. A mortalidade nos 106 pacientes foi de 12%, associando-se ao peso ao nascer (13/65 <1000 vs. 0/41 >1000 g; p=0,002) e à falha do primeiro ciclo de tratamento farmacológico (13/27 com falha vs. 0/75 com sucesso; p<0,001). Conclusões: Consenso nacional de 2010 para diagnóstico e tratamento do canal arterial nos prematuros levou à diminuição do número de fechamentos desse canal. O fechamento farmacológico foi o método mais utilizado, seguido da ligadura cirúrgica. Peso <1000 g e falha no primeiro ciclo de fechamento farmacológico se associaram à maior mortalidade.

ABSTRACT Objective: To characterize the number and methods of closure of Persistent Ductus Arteriosus (PDA) over a span of 16 years in a third level maternity hospital. Methods: Retrospective study of neonates born between January 2003 and Deccember 2018, who underwent ductus arteriosus closure by pharmacological, surgical and/or transcatheter methods. Gestational age, birth weight, number and methods of closures per year were evaluated. The success rate of the pharmacologic method was calculated, as well as the mortality rate. The association between mortality and birthweight, treatment used and treatment failure was explored. Results: There were 47,198 births, 5,156 were preterm, 325 presented PDA and 106 were eligible for closure (median gestational age - 27 weeks, birthweight <1000 g - 61%). Frequency of PDA closure decreased during the study period, especially starting in 2010. Success rate with pharmacologic treatment was 62% after the first cycle and 74% after the second. After drug failure, 12 underwent surgical ligation and two underwent transcatheter closure. Exclusive surgical ligation was indicated in four infants. Ibuprofen replaced indomethacin in 2010, and acetaminophen was used in three infants. Among the 106 infants, hospital mortality was 12% and it was associated with birthweight <1000 g (13/65 <1000 vs. 0/41 >1000 g; p=0.002) and with failure in the first pharmacologic treatment cycle (13/27 with failure, vs. 0/75 without failure; p<0.001). Conclusions: The national consensus published in 2010 for the diagnosis and treatment of PDA in preterm infants led to a decrease in the indication for closure. Pharmacological closure was the method of choice, followed by surgical ligation. Birthweight <1000 g and first cycle of pharmacologic treatment failure were associated with higher mortality.