ANALYSIS OF LIMB REDUCTION DEFECTS IN BABIES EXPOSED TO CHRONIC VILLUS SAMPLING

In 1991 we reported a cluster of babies with limb abnormalities and su ggested that chorionic villus sampling (CVS) was aetiologically associ ated with these defects. To address the issue more objectively, we hav e assessed reported limb reduction defects in 75 babies exposed to CVS in utero. 13 babies had an absent limb or a defect through the humeru s or femur; 9 had defects through the radius or tibia; 22 defects of t he carpus, tarsus, metacarpus, or metatarsus; 25 defects of the digits ; and 6 defects of the terminal phalanx or nail only. There was a stro ng correlation between the severity of the defects and the duration of gestation when CVS was done. The median gestational age at CVS ranged from 56 (range 49-65) postmenstrual days for the most severe category to 72 (51-98) days for the least severe. The relation was seen for bo th isolated limb defects and for cases with oromandibular-limb hypogen esis syndromes. This relation is further evidence that CVS has an aeti ological role in some limb reduction anomalies.