Document Detail

Antenatal manifestations of mitochondrial respiratory chain deficiency.
MedLine Citation:
PMID:  12970634     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To review the antenatal manifestations of disorders of oxidative phosphorylation. STUDY DESIGN: 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.
Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale De Lonlay
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  143     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-09-12     Completed Date:  2003-10-07     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  208-12     Citation Subset:  AIM; IM    
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.
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MeSH Terms
Birth Weight
Congenital Abnormalities
Embryonic and Fetal Development / physiology
Fetal Growth Retardation / complications
Fetal Heart / physiopathology
Fetal Movement / physiology
Infant, Low Birth Weight
Infant, Newborn
Mitochondrial Diseases / embryology*
Retrospective Studies
Ultrasonography, Prenatal

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