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Chorion villus sampling and limb deficiency--cause or coincidence?

H Firth1

  • 1Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, U.K.

Prenatal Diagnosis
|March 24, 1998
PubMed

Chorion villus sampling (CVS) is a widely used technique in first trimester prenatal diagnosis. In the early 1990s, two clusters of babies with limb defects following CVS were reported, raising the possibility of a causal association between early CVS and transverse limb deficiency. The evidence for this association is reviewed and shows a diminishing risk for transverse limb deficiency with advancing gestation. The risk of limb deficiency extends through the period of limb morphogenesis and slightly beyond; falling from levels 10-20-fold above background at nine weeks and below, to levels approaching (or only a few-fold above) background at 11 weeks and beyond.

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