Limb anomalies following chorionic villus sampling: A registry based case‐control study

Abstract

Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

The Use of Birth Defect Registries for Etiological Research: A Review

“…Dolk et al [24], looking at all limb reduction defects in several EUROCAT registries, also could not confirm such an association. However, both Halliday et al [41]and Dolk et al [24]did not specify the timing of the CVS, which was shown to be relevant in the first study by Mastroiacovo et al [40]. Mastroiacovo and Botto [42]later confirmed their earlier positive findings, corrected for maternal age, in an extended database.…”

“…Since TLRD is a rare birth defect and CVS is an aspect of pregnancy for which registries often contain good data, this is an association that can be studied well by using a birth defect registry. Mastroiacovo et al [40]were among the first to describe this association, as they found it in the database of the Italian Multicenter Birth Defect Registry. However, such an association was not found by Halliday et al [41]in the Australian Congenital Malformations Register.…”

Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

“…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 severity of TDDs; indicate that using a INTRODUCTION Chorionic villus sampling (CVS) has been shown to be associated with a n increased risk for transverse limb deficiencies in several studies [Firth et al, 1991;Burton et al, 1992;Brambati et al, 1992;Mastroiacovo et al, 1992Mastroiacovo et al, ,1994GIDEF, 1994;Olney et al, 19951, but not in all [Jackson et al, 1993;Froster and Jackson, 19943. In those studies in which an association was found, it was consistently specific for transverse limb deficiencies, as reflected by the high relative risk for these but not for other types of limb deficiencies.…”

Increased Incidence of Preeclampsia in Pregnancies Complicated by Fetal Malformation

“…The possible role of impaired perfusion in the development of a malformation is supported by the fol lowing consideration. Although the safety of chorionic vil lous sampling (CVS) in the hands of expert clinicians is not questioned, its association with an increased inci dence of malformation is still a matter of controversy [11][12][13][14][16][17][18], A recent large collaborative study denied any correlation with limb reduction defects [17], though it leaves open the question of cases performed before the 9th week. Indeed an incidence of severe limb abnormalities as high as 1.6% following CVS before the 8th week has been reported [11], These defects have been interpreted as a result of fetal hemorrhage due to vascular disruption, or the release of vasoactive peptides and other damage to the uteroplacental circulation.…”