Document Detail

Studies of the mechanism of amniotic sac puncture-induced limb abnormalities in mice.
MedLine Citation:
PMID:  10761861     Owner:  NLM     Status:  MEDLINE    
The principal advantage of chorionic villus sampling (cvs) over amniocentesis for the determination of the genetic constitution of the embryo is that it may be undertaken earlier in pregnancy. If carried out too early in pregnancy, it has the risk of inducing craniofacial and limb abnormalities, a condition termed the oromandibulofacial limb hypogenesis (OMFL) syndrome in genetically normal infants. It is believed that the defects observed have a vascular origin, possibly due to anoxia of tissues due to fetal blood loss or thrombus formation at the site of biopsy with distal embolization. We believe that this does not adequately explain the findings from the experimental animal literature involving amniotic sac puncture (ASP). Based on these experimental findings, we have hypothesised that (i) the defects observed following cvs may result from the consequences of oligohydramnios following the inadvertent puncturing of the amniotic sac during this procedure, and (ii) that cleft palate and the postural limb defects observed (e.g., clubfoot and clubhand) are secondary to embryonic/fetal compression. Our experimental studies shed new light on the mechanism of induction of the limb defects seen, but particularly syndactyly. Evidence of hypoperfusion of the peripheral part of the developing limb bud is observed, which interferes with apoptosis that occurs in the digital interzones, or induces an abnormal degree of cellular proliferation and/or tissue regeneration in these sites, possibly because of over-expression of critical genes involved in limb pattern specification. Cleft palate, tail abnormalities and abnormalities of sternal ossification are also observed in our model.
M H Kaufman; H H Chang
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  The International journal of developmental biology     Volume:  44     ISSN:  0214-6282     ISO Abbreviation:  Int. J. Dev. Biol.     Publication Date:  2000  
Date Detail:
Created Date:  2000-06-22     Completed Date:  2000-06-22     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8917470     Medline TA:  Int J Dev Biol     Country:  SPAIN    
Other Details:
Languages:  eng     Pagination:  161-75     Citation Subset:  IM    
Department of Anatomy, University Medical School, Edinburgh, United Kingdom.
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MeSH Terms
Amniocentesis / adverse effects
Amnion / injuries*
Chorionic Villi Sampling / adverse effects*
Craniofacial Abnormalities / etiology
Limb Deformities, Congenital / etiology*
Oligohydramnios / complications
Punctures / adverse effects

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