ABSTRACT
INTRODUCTION: Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phenylketonuria (PKU), tyrosinemia II (TSII), organic acidaemias and ornithine transcarbamylase deficiency (OTCD), among others. They are increasingly more common in adults due to improved management. This has allowed more affected women to consider having children with good prospects. However, pregnancy may worsen metabolic control and/or increase maternal-fetal complications. The objective is to analyse the characteristics and outcomes of pregnancies of our patients with IEM. METHODS: Retrospective descriptive study. Pregnancies of women with IEM attended to at the adult IEM referral unit of the Hospital Universitario Virgen del Rocío were included. The qualitative variables were described as n(%) and the quantitative as P50 (P25-P75). RESULTS: 24 pregnancies were recorded: 12 newborns were healthy, 1 inherited their mother's disease, 2 had maternal phenylketonuria syndrome, 1 was stillborn (gestational week 31â¯+â¯5), 5 were spontaneous abortions and 3 were voluntarily terminated. The gestations were divided into metabolically controlled and uncontrolled. CONCLUSIONS: Pregnancy planning and multidisciplinary management through to postpartum is essential to ensure maternal and fetal health. The basis of treatment in PKU and TSII is a strict protein-limited diet. Events that increase protein catabolism in organic acidaemias and DOTC should be avoided. Further investigation of pregnancy outcomes in women with IEM is needed.
Subject(s)
Abortion, Spontaneous , Amino Acid Metabolism, Inborn Errors , Metabolism, Inborn Errors , Child , Pregnancy , Adult , Humans , Infant, Newborn , Female , Retrospective Studies , Metabolism, Inborn Errors/therapy , Pregnancy OutcomeABSTRACT
OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them.
OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. METODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen.
Subject(s)
Anemia, Sickle Cell/diagnosis , Congenital Hypothyroidism/diagnosis , Cystic Fibrosis/diagnosis , Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Anemia, Sickle Cell/epidemiology , Congenital Hypothyroidism/epidemiology , Cystic Fibrosis/epidemiology , Early Diagnosis , Humans , Infant, Newborn , Longitudinal Studies , Metabolism, Inborn Errors/epidemiology , Prevalence , Retrospective Studies , Spain/epidemiologyABSTRACT
OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. MÉTODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen
OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them
