title: Antenatal manifestations of mitochondrial respiratory chain deficiency.
abstract: OBJECTIVE
  To review the antenatal manifestations of disorders of oxidative phosphorylation.
  
  
  METHODS
  A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies.
  
  
  RESULTS
  Retrospective analyses detected low birth weight (<3rd percentile for gestational age) in 22.7% of cases (68/300, P<.000001). Intrauterine growth retardation was either isolated (48/300, 16%) or associated with otherwise unexplained anomalies (20/300, 6.7%, P<.0001). Antenatal anomalies were usually multiple and involved several organs sharing no common function or embryologic origin. They included polyhydramnios (6/20), oligoamnios (2/20), arthrogryposis (1/20), decreased fetal movements (1/20), ventricular septal defects (2/20), hypertrophic cardiomyopathy (4/20), cardiac rhythm anomalies (4/20), hydronephrosis (3/20), vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula/atresia, renal agenesis and dysplasia, and limb defects (VACTERL) association (2/20), and a complex gastrointestinal malformation (1/20).
  
  
  CONCLUSIONS
  Although a number of metabolic diseases undergo a symptom-free period, respiratory chain deficiency may have an early antenatal expression, presumably related to the time course of the disease gene expression in the embryofetal period. The mechanism triggering malformations is unknown and may include decreased ATP formation and/or an alteration of apoptotic events controlled by the mitochondria.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, 149 Rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: Jürgen-Christoph
authors.initials: JC
authors.lastname: von Kleist-Retzow
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Géraldine
authors.initials: G
authors.lastname: Viot
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Becky
authors.initials: B
authors.lastname: Mardach
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Philippe
authors.initials: P
authors.lastname: Saada
authors.forename: Yves
authors.initials: Y
authors.lastname: Dumez
authors.forename: Francis
authors.initials: F
authors.lastname: Brunelle
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Saudubray
authors.forename: Dominique
authors.initials: D
authors.lastname: Chrétien
authors.forename: Agnès
authors.initials: A
authors.lastname: Rötig
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Pascale
authors.initials: P
authors.lastname: De Lonlay
mesh_terms: D001724:Birth Weight; D000013:Congenital Abnormalities; D005314:Embryonic and Fetal Development / Q000502:physiology; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D005318:Fetal Heart / Q000503:physiopathology; D005324:Fetal Movement / Q000502:physiology; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D028361:Mitochondrial Diseases / Q000196:embryology*; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal