CHORIONIC VILLUS SAMPLING AND TRANSVERSE DIGITAL DEFICIENCIES - EVIDENCE FOR ANATOMIC AND GESTATIONAL-AGE SPECIFICITY OF THE DIGITAL DEFICIENCIES IN 2 STUDIES

Several but not all studies indicate that chorionic villus sampling (C VS) is associated with an increased risk for transverse limb deficienc ies, including digital deficiencies, It has been suggested that variat ions in results regarding the transverse digital deficiencies (TDDs) m ay be due to the use of different classification criteria, We present the combined analysis of two case-control studies, the U,S, Multistate CVS (US) study and the Italian Multicentric Birth Defects (IPIMC) stu dy, using two different definitions of TDDs, We compared the frequency of CVS exposure in control infants with that among those infants with any number of affected digits (any TDD), and those with all five digi ts of at least one limb affected (extensive TDDs), The estimated relat ive risk (RR) for any TDD following CVS was 10.6 (IPIMC) and 6.6 (US), For the extensive TDDs, the RR was 30.5 (IPIMC) and 10.7 (US), In bot h studies, extensive TDDs were less than 25% of all TDDs, Compared to all TDDs, extensive TDDs were more likely to occur after CVS performed earlier in the first trimester (before 10-11 weeks' gestation), These findings suggest a relationship between the timing of CVS and the sev erity of TDDs; indicate that using a restrictive definition of TDDs (a ll five digits affected) may limit the ability to evaluate the associa tion between CVS and TDDs in populations in whom CVS is usually perfor med at or after 10 weeks' gestation; and highlight the necessity to co nsider gestational age in any evaluation of the relative risk for limb deficiencies associated with CVS. (C) 1996 Wiley-Liss, Inc.