Objective To evaluate chorionic villus sampling (CVS) as a technique for ka
ryotyping after the first trimester by examining the incidence of result fa
ilure, confined placental mosaicism, and false positive or negative results
at different gestational ages.
Methods During a nine year period between 1989 and 1997, all results of CVS
between 8 and 37 weeks of gestation provided by the Regional Cytogenetics
Centre were analysed retrospectively by examining indications for CVS, weig
hts of tissue received, gestational age at sampling and karyotype results.
Results There were 2424 chorionic villus samples analysed by the direct met
hod and/or cell culture. In 1548 cases CVS was performed before 14 weeks (G
roup 1), in 685 between 15 and 20 weeks (Group 2), in 160 between 21 and 28
weeks (Group 3) and in 31 cases after 29 weeks (Group 4). Although there w
as a trend for an increasing rate of failed direct preparation results from
Groups 1 to 4 which were 3.8%, 4.7%, 5.6% and 6.6%, respectively; these re
sults were not significantly different. There were 19 cases of confined pla
cental mosaicism and the incidence was significantly greater in Group 3 com
pared with Group 1 (P < 0.05), and in Groups 3 and 4 combined compared with
Group 1. There were six false positive and one false negative result follo
wing direct analysis with no significant differences between gestational ag
es.
Conclusions CVS is a useful test after the first trimester, especially when
a fast result is clinically required. However, after 20 weeks, when cordoc
entesis is available, the higher rate of cytogenetic discordancy between th
e placenta and the fetus means that cordocentesis may be preferable.