Mastroiacovo P, Botto L D, Cavalcanti D P, Lalatta F, Selicorni A, Tozzi A E, Baronciani D, Cigolotti A C, Giordano S, Petroni F
Department of Pediatrics, Catholic University, Rome, Italy.
Am J Med Genet. 1992 Dec 1;44(6):856-64. doi: 10.1002/ajmg.1320440639.
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.
利用意大利多中心出生缺陷登记处的数据，开展了一项病例对照研究，以验证绒毛取样（CVS）是否与暴露后代的横向肢体缺陷（TLD）相关，无论有无口下颌肢体发育不全综合征（OMLHC）的特征。结果显示，CVS后TLD和OMLHC的风险增加，且在妊娠早期（即胎龄70天以下）进行的CVS中风险尤其高。这些结果，连同对其他流行病学研究、生物学数据和临床报告的综述，强烈表明CVS作为TLD的风险因素具有因果作用，并表明在现阶段，应不鼓励将胎龄70天前的CVS作为产前诊断的选择，且所有希望接受CVS的患者均应被告知该操作可能存在的风险。
