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The aim of our study was to identify the frequency and characterize antenatal manifestations identifying possible associations between mitochondrial disease and more specific and earlier manifestation. We retrospectively review the files of 44 paediatric subjects with genetic and biochemical alterations of respiratory chain identified in the first decade of life and compare data with a control group (<jats:italic>n<\/jats:italic>\u2009=\u200988). Our results show that maternal age was similar in both groups. The female gender was predominant in patients group. Gestational age at delivery was similar in both groups. Concerning birth weight, it was significantly lower (<jats:italic>p<\/jats:italic>\u2009=\u20090.001) in patients (2899.9\u2009\u00b1\u2009538.3 vs. 3246.6\u2009\u00b1\u2009460.2 g). Fifteen pregnancies of the patients group were considered abnormal. Our findings show that intrauterine growth restriction was the most frequent antenatal feature observed. Neonatal morbidity was significantly higher (fivefold) in patients (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). The clinical findings are independent of the molecular defect type. Our results are preliminary and more studies are needed, in order to learn more about mitochondrial physiology and activity in embryological development for the assessment of mitochondrial disease progress in fetal life. However, the present work is a significant contribution, given the scarcity of information in this field.<\/jats:p>","DOI":"10.1007\/s10545-012-9567-x","type":"journal-article","created":{"date-parts":[[2013,1,29]],"date-time":"2013-01-29T12:09:18Z","timestamp":1359461358000},"page":"805-811","source":"Crossref","is-referenced-by-count":19,"title":["Antenatal manifestations of mitochondrial disorders"],"prefix":"10.1002","volume":"36","author":[{"given":"Mariana Vide","family":"Tavares","sequence":"first","affiliation":[{"name":"Obstetric Unit, University Hospital of Coimbra Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}]},{"given":"Maria Jo\u00e3o","family":"Santos","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory University of Coimbra Coimbra Portugal"}]},{"given":"Ana Patr\u00edcia","family":"Domingues","sequence":"additional","affiliation":[{"name":"Obstetric Unit, University Hospital of Coimbra Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}]},{"given":"Jo\u00e3o","family":"Pratas","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory University of Coimbra Coimbra Portugal"}]},{"given":"C\u00e2ndida","family":"Mendes","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory University of Coimbra Coimbra Portugal"}]},{"given":"Marta","family":"Sim\u00f5es","sequence":"additional","affiliation":[{"name":"Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory University of Coimbra Coimbra Portugal"}]},{"given":"Paulo","family":"Moura","sequence":"additional","affiliation":[{"name":"Obstetric Unit, University Hospital of Coimbra Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"},{"name":"Faculty of Medicine University of Coimbra P\u00f3lo III \u2013 Subunit I, Azinhaga de Sta. 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