A prospective study was undertaken to determine whether first-trimeste
r amniocentesis or chorion villus sampling was associated with an incr
eased incidence of congenital anomalies. The infants of mothers who ha
d undergone first-trimester amniocentesis (EA) (n = 352), chorion vill
us sampling (CVS) (n = 348) or no invasive antenatal procedure (contro
ls) (n = 264) were examined at a median age of 5 months. Both the EA a
nd CVS groups had a higher proportion of infants with congenital anoma
lies (n = 18 and n = 22, respectively) than the control group (n = 4)
(p < 0.01). Certain of the abnormalities, however, affected only singl
e infants. Compression abnormalities were more common in the EA group
than in the controls (p < 0.05), but not in the CVS group. The isolate
d limb abnormalities which occurred were minor anomalies affecting the
digits and were seen in both the CVS (n = 6) and EA (n = 3) groups. F
irst-trimester invasive procedures are thus associated with an excess
of congenital anomalies.