Limb anomalies associated with chorionic villus sampling

Data on outcome of pregnancy were obtained in 436 (94%) of 463 patients undergoing chorionic villus sampling (CVS) at Humana Hospital-Michael Reese between January 1, 1989 and November 30, 1990. There were 18 elective abortions, 27 fetal and neonatal losses, and 391 surviving infants. Of the 394 fetuses and infants who were adequately evaluated, a total of 13 (3.3%) had major congenital anomalies, including four with transverse limb reduction deformities, three with cleft lip with or without cleft palate, and one each with a nasal encephalocele, large port-wine stain, craniosynostosis, omphalocele with associated defects, ambiguous genitalia, and undescended testes. The limb malformations in the four affected infants were all very similar and were comparable to those described by others in association with CVS. Three of the cases of limb malformations followed transcervical CVS; one followed a transabdominal procedure. The procedures were performed at 9.5, 9.5, 10.5, and 11 weeks' gestation. An adequate sample was obtained with a single attempt in each case. These observations, in conjunction with others in the literature, suggest that there is an increased risk of limb anomalies associated with CVS. A vascular etiology, related to either decreased fetal perfusion or thrombosis of the sampling site with subsequent embolization, is suggested.