ABSTRACT
Polymorphisms of genes involved in the metabolism and transport of folate and cobalamin could play relevant roles in pregnancy outcomes. This study assessed the prevalence of genetic polymorphisms of folate and cobalamin metabolism-related genes such as MTHFR, MTR, CUBN, and SLC19A1 in pregnant women of a homogeneous Spanish population according to conception, pregnancy, delivery, and newborns complications. This study was conducted on 149 nulliparous women with singleton pregnancies. Sociodemographic and obstetrics variables were recorded, and all patients were genotyped in the MTHFR, MTR, CUBN, and SLC10A1 polymorphisms. The distribution of genotypes detected in this cohort was similar to the population distribution reported in Europe, highlighting that more than 50% of women were carriers of risk alleles of the studied genes. In women with the MTHFR risk allele, there was a statistically significant higher frequency of assisted fertilisation and a higher frequency of preeclampsia and preterm birth. Moreover, CUBN (rs1801222) polymorphism carriers showed a statistically significantly lower frequency of complications during delivery. In conclusion, the prevalence of genetic variants related to folic acid and vitamin B12 metabolic genes in pregnant women is related to mother and neonatal outcomes. Knowing the prevalence of these polymorphisms may lead to a personalised prescription of vitamin intake.
Subject(s)
Folic Acid , Premature Birth , Dietary Supplements , Female , Genotype , Humans , Infant, Newborn , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Pregnancy , Pregnant Women , Vitamin B 12 , VitaminsABSTRACT
La hemocromatosis neonatal es una enfermedad congénita infrecuente que cursa con un fallo hepático severo con alta tasa de mortalidad (80-90%) en el neonato. Su etiología sigue siendo desconocida, aunque cada día cobra más fuerza la hipótesis aloinmune. La terapia con inmunoglobulina por vía intravenosa ha demostrado ser efectiva para disminuir sus consecuencias. Presentamos el caso de una paciente con diagnóstico previo de hijo afectado por la enfermedad que en la gestación actual se realiza tratamiento con inmunoglobulina por vía intravenosa, desde la semana 14 de embarazo, obteniendo resultados satisfactorios (AU)
Neonatal hemochromatosis is a rare congenital disease that causes severe liverfailure, leading to a high mortality rate (80-90%). The cause remains unknown but the alloimmune hypothesis is gaining ground. Intravenous immunoglobulin therapy has been proven to be effective in ameliorating the consequences of this entity. We present the case of a patient who had previously delivered a child with neonatal hemochromatosis. She was treated with intravenous immunoglobulin from week 14 of pregnancy, with a satisfactory outcome (AU)
