Discharge Outcomes of Liveborn Infants With Omphalocele (Isolated Vs Non-isolated)

@#Introduction: The mortality rate due to omphalocele cases remains high. The presence of other congenital anomalies is believed to be one of the factors causing death in patients with omphalocele. The objective of the study was to determine the influence of other congenital anomalies leading to mortality. Methods: We conducted a retrospective cohort study in the neonatal unit of Sardjito General Hospital from March 2008-April 2019. We collected data on factors including sex, mode of delivery, gestational age, birth weight, associated anomalies, management, neonatal complications, need for surgeries, and mortality from our registry and patients’ medical records. We then classified the infants into the isolated omphalocele and non-isolated omphalocele groups. Univariate and multivariate analyses were performed to determine the association of congenital anomalies and other confounding factors with mortality. Results: We identified 73 omphalocele cases during the study period. The hospital occurrence was 4.3/1000 livebirths. We found 45 cases (61.6%) of omphalocele associated with other congenital anomalies including several syndromes (46.7%) such as Patau syndrome and Beckwith-Wiedemann syndrome, congenital heart defects (42.2%), gastrointestinal anomalies (22.2%), neural tube defects (15.6%), cleft palate (11.1%), and syndactyly (0.07%). There was no difference in mortality (25/45 vs 15/28) between the groups (p=0.87). Interestingly, sepsis, pneumonia and gastrointestinal perforation were significantly associated with the survival of infants with omphalocele, with p-value of 0.05, 0.00, and 0.05, respectively. Conclusion: Certain complications might have an impact on survival, but the presence of other congenital anomalies was not significantly associated with the mortality of omphalocele cases.

Estudo das anomalias cromossômicas ocorridas em uma maternidade nos anos de 2010 a 2014 / Study of chromosomal abnormalities encountered in a maternity hospital between 2010 and 2014 / Estudio de las anomalías cromosómicas que ocurrieron en una maternidad en los años de 2010 a 2014

O presente estudo buscou identificar a existência de anomalias cromossômicas registradas nos prontuários de nascidos vivos em uma maternidade. Estudo retrospectivo que analisou as informações contidas nos prontuários dos arquivos do Serviço de Arquivamento Médico de uma maternidade do estado do Amazonas entre janeiro de 2010 e dezembro de 2014, e estudou-se a correlação de anomalias cromossômicas presentes com características maternas e do nascido vivo. Analisou-se 15.621 prontuários, destes 163 apresentaram defeitos congênitos, 15 foram diagnosticados com síndromes cromossômicas distribuídas em três tipos de anomalias: 13 indivíduos com Síndrome de Down, um com Síndrome de Patau e um com Síndrome de Dany-Walker. Este é o primeiro registro de ocorrência e perfil dos nascimentos com anomalias cromossômicas em uma maternidade. O resultado é de grande importância para a saúde pública do Estado. A realização de novos estudos poderá fornecer um melhor panorama sobre diferentes doenças genéticas daquele estado (AU).

This study sought to identify the existence of chromosomal abnormalities recorded in the medical records of live-born infants in a maternity hospital. This retrospective study analyzed the information contained in the medical records of the archives of the Medical Archiving Service of a maternity hospital in Amazonas state between January 2010 and December 2014, with the correlation between the chromosomal abnormalities and the characteristics of the mothers and the live-born infants also studied. A total of 15,621 records were analyzed, of these 163 presented congenital defects, with 15 diagnosed with chromosomal syndromes, divided into three types of anomalies: 13 individuals with Down syndrome, one with Patau syndrome and one with Dandy-Walker syndrome. This is the first registration of the occurrence and profile of births with chromosomal abnormalities in a maternity hospital. The result is of great importance for the public health service of the state. The performance of further studies may provide a better overview of the different genetic diseases of this state (AU)

Este estudio tuvo la finalidad de identificar la existencia de anomalías cromosómicas registradas en los prontuarios de nacidos vivos en una maternidad. Estudio retrospectivo hecho por medio de análisis de informaciones contenidas en los prontuarios de los archivos del Servicio de Archivo Médico de una maternidad del estado de Amazonas entre enero de 2010 y diciembre de 2014. Fue examinada la correspondencia de anomalías cromosómicas presentes con características maternas y del nacido vivo. Se analizaron 15.621 prontuarios, de los cuales 163 presentaron defectos congénitos, 15 fueron diagnosticados con síndromes cromosómicas distribuidas en tres tipos de anomalías: 13 individuos con Síndrome de Down, un con Síndrome de Patau y un con Síndrome de Dany-Walker. Este es el primero registro de ocurrencia y perfil de los nacimientos con anomalías cromosómicas en una maternidad. El resultado tiene gran importancia para la salud pública del estado. La realización de nuevos estudios podrá traer un mejor panorama acerca de distintas enfermedades genéticas del estado (AU).

Prevalent congenital anomalies and metabolic disorders among live-born neonates in hospitals in General Santos City, Philippines (2009-2012)

OBJECTIVES: Birth defects are among the leading causes of infant mortality and morbidity in the Philippines. While affected infants make up a sizable portion of live births in General Santos City (GSC), no information is available about their actual numbers. This study aims to fill the knowledge gap about the prevalence and nature of congenital anomalies (CAs) and congenital metabolic disorders (CMDs) in the city from 2009 to 2012. METHODS: A retrospective study of in-patient records from six(6) medical facilities was done for CA/CMD cases from 2009-2012. Among the CMDs tested were congenital hypothyroidism (CH), congenital adrenal hyperlasia (CAH), galactosemia (GAL), hyperphenyalaninemia (HPA), phenylkentonuria  (PKU) and glucose-6-phosphate dehydrogenase deficiency (G6PD def). RESULT: Collected data revealed 109 cases of CAs with limb deformities, oro-facial clefting and neural tube disorders comprising majority of cases. There were 878 reported cases of CMDs with glucose-6-phosphate dehydrogenase deficiency (G6PD def) as the most prevalent at 829 cases. There was also a preponderance of CAs/CMDs in a government hospital for the indigent. CONCLUSION: These result underscore the emergence of CAs and CMDs as a major health problem among newborns in GSC. Higher incidences of birth defects in one district hospital also reveal a tentative link between CA/CMD incidence and socioeconomic status. It is of paramount importance therefore, to undertake expansion of the newborn screening program and to establish local birth registries so that a more comprehensive and realistic picture of CA/CMD prevalence in the city will be obtained.

Birth Weight and Future Life-span in Finnish Triplets.

Aims: Interest in the distribution of birth weight arises because of the association between birth weight and the future health of the child. A common statistical result is that the birth weight distribution differs slightly from the Gaussian distribution. Methods: A standard attempt has been done to split the distribution into two components, a predominant Gaussian distribution and an unspecified “residual” distribution. Results: We considered birth weight data among triplets born in Finland in 1905-1959 and compare the birth weight among stillborn and live-born triplets. The stillbirth rates are 119.1 per 1000 births for males, 124.6 for females and 121.8 for all. The sex differences are not significant. The still birth rate for the period 1905-1930 was 119.5 and for the period 1931-1959, 124.2. We identified a strong association between birth weight of the triplets and their survival. The weight distribution for male triplets is described well by the Gaussian curve, while for females a slight deviation from the Gaussian distribution is discernible.

Docimasia hepática y ausencia de cuidados mínimos: serie de casos / Docimasia liver and lack of minimal care: case series

Para definir si un lactante nació vivo o muerto, se ha practicado por algún tiempo la prueba de sumersión del pulmón en agua, pero diversas condiciones la alteran y además ella no tiene en cuenta los otros criterios de nacido vivo definidos por la Organización Mundial de la Salud (OMS) como los latidos del corazón, los movimientos espontáneos o las pulsaciones del cordón umbilical; por lo tanto, se requiere de pruebas adicionales. Presentamos tres casos de fetos abandonados con hallazgo histológico de hepatocitos claros. Este hallazgo en hígados de recién nacidos puede contribuir a establecer la vitalidad en el momento del nacimiento...

In the case of infant death, a coroner routinely performs lung submersion in water to establish if a child had been liveborn or stillborn. However, this test fails to provide absolute proof because the lungs may have been affected by diverse conditions. Furthermore, it does not allow for liveborn criteria defined by WHO such as heartbeat, spontaneous movements, or umbilical cord pulse. Therefore, additional tests are needed. We present three cases of abandoned newborn with a histological finding of clear hepatocytes. This finding in fetal livers can help establish vitality at the time of birth...