Antenatal manifestations of mitochondrial disorders

Trabalho final de mestrado integrado em Medicina área científica de Obstetricia, apresentado á Faculdade de Medicina da Universidade de CoimbraIntroduction: Mitochondria are crucial organelles of the cell and its main function is to produce and provide energy for cellular metabolism in most organs and tissues, through a process called oxidative phosphorylation. Mitochondrial respiratory chain diseases are a heterogeneous group of pathologies due to genetic mutations affecting mitochondrial energy production. The estimated incidence is approximately 1:10.000 births. A defect of oxidative phosphorylation can theoretically lead to any symptoms, in any organ or tissue, at any age or even before birth. Objective: To identify the frequency of antenatal manifestations of mitochondrial respiratory chain disorders, characterize the phenotypes and identify possible associations between mitochondrial respiratory chain disorders and a more specific and earlier manifestation or diagnostic disclosure of these diseases. Methods and subjects: The files of a group of pediatric subjects with mitochondrial respiratory chain disease identified in the first decade of life at the Laboratory of Biochemistry Genetics-Centre for Neuroscience and Cell Biology and Faculty of Medicine, University of Coimbra, in a period of 10 years (2000-2010) were retrospectively reviewed. The results of prenatal and birth history were compared with a control group, which included 2 healthy infants matching patients by the month and year of birth, for each case of a child with mitochondrial disease diagnosis Results [patients (group A)(n=45) versus controls (group B)(n=90)]: Maternal age was (mean ±standard deviation) 28.4±6.5 and 28.3±4.7 years, respectively. Gestacional age at delivery was 38.8±1.7 and 38.5±2.6 weeks. The ratio of children gender (male: female) was 0.73 vs 1 and birth weight at delivery was 2923.2±554.2 vs 3246.6±460.2 grams (p=0.001). Concerning family history, neurologic diseases were found in 9 vs 5 cases and genetic diseases in 2 vs 0. Fifteen pregnancies of group A were considered abnormal. The anomalies observed were: intrauterine growth restriction (n=9), oligohydramnios (n=2), preterm delivery (n=2), fetal anemia/anasarca (n=1), maternal infection with varicella (n=1), poor fetal movements (n=1). Neonatal morbidity is significantly higher (5 fold) in group A (p