Document Detail

Causal hypothesis for some congenital anomalies.
MedLine Citation:
PMID:  16354495     Owner:  NLM     Status:  MEDLINE    
Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies and cerebral palsy of unknown etiology are attributable to a monozygotic multiple conception with monochorionic placentation and that these anomalies, even in singletons, may be explained by early, unrecognized or unrecorded loss of one conceptus in a monochorionic monozygotic conception. The pathological mechanism is hemodynamic instability with episodes of acute feto-fetal transfusion that produce ischemic organ impairment in either or both twins. The resultant clinical abnormality will depend on range of severity (fetal death, infant death, congenital anomaly, normal infant), site or combination of sites (which organ[s] present[s] with the congenital anomaly) and timing (early, middle or late in gestation as shown by variation in brain pathology that is observed).
Peter O D Pharoah
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Publication Detail:
Type:  Journal Article; Review; Twin Study    
Journal Detail:
Title:  Twin research and human genetics : the official journal of the International Society for Twin Studies     Volume:  8     ISSN:  1832-4274     ISO Abbreviation:  -     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-15     Completed Date:  2006-03-14     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  101244624     Medline TA:  Twin Res Hum Genet     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  543-50     Citation Subset:  IM    
FSID Unit of Perinatal and Paediatric Epidemiology, Department of Public Health, University of Liverpool, Liverpool, United Kingdom.
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MeSH Terms
Congenital Abnormalities / etiology*,  pathology
Fetal Death / etiology*,  pathology
Ischemia / etiology,  pathology
Malnutrition / complications
Maternal Exposure / adverse effects
Teratogens / toxicity
Reg. No./Substance:

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