Chorionic villus sampling (CVS) has the great advantage over mid-trime
ster amniocentesis of producing early results. Moreover, rapid analyti
c techniques have significantly reduced the waiting time between sampl
ing and diagnosis, whereas progress in recombinant DNA technology and
human gene mapping has led to an increase in the range of conditions i
t can detect. The role of CVS in twin pregnancy has been investigated
and compared with amniocentesis. Although these techniques are equally
safe, CVS should be considered the approach of choice because of a nu
mber of technical advantages, and in relation to selective fetal reduc
tion in discordant twins. Confined placental mosaicism has been invest
igated and a list of chromosomes related to adverse pregnancy outcome
has been compiled. Recent reports have substantially contributed to so
lving the controversy on the hypothetical relationship between limb re
duction defects and CVS. Analysis of limb reduction defects among more
than 130 000 cases reported to the World Health Organization CVS regi
stry has been unable to find any relationship between sampling and fet
al malformations, including limb reduction defects.