COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS

本提案的总体目标是与NICHD共同参与 根据多中心合作临床合作协议计划， 比较绒毛膜绒毛取样（CVS）的安全性和准确性的研究 在怀孕的前三个月，在第二个月进行子宫内膜穿刺术 产前诊断遗传疾病的三个月。 女性 将从患者人群中招募妊娠早期 在西奈山医疗中心，其附属医院， 大纽约都会区。 非指导性遗传咨询将 提供，并获得知情同意。 参与患者 将随机接受CVS或腹膜穿刺术。 预计10至 在第二阶段，每月将有30名妇女被随机分组， 在IIIa期，每月随机分配1名女性。 cvs和 将在超声引导下进行穿刺术。 标本将 仔细准备进行细胞遗传学检查，如有必要， 生化分析 将努力确定 母体污染和/或绒毛标本中的镶嵌现象 直接分析和培养后分析。 此外，物理动力学 将比较正常绒毛中各种酶的性质 和巨噬细胞，以确定差异， 诊断结果不准确。 随访研究（IIIb期和IV期）将 包括通过适当的研究确认所有CVS结果， 羊水穿刺术获得的培养羊水细胞， 人工流产材料或从监测的新生儿中获得的标本 除高龄产妇外的其他适应症。 临床评价将 在新生儿保育室和6个月时对所有受监测的婴儿进行 年龄。 此外，还将进行细胞遗传学和病理学研究 对自然流产的材料，以确定细胞遗传学异常 和/或畸形。 这些研究的数据，包括 将收集自然流产的数据，用于多中心分析， CVS与羊水穿刺术在产前诊断中的准确性和安全性。

The overall objective of this proposal is to participate with the NICHD under a Cooperative Agreement Program in a multicenter cooperative clinical study comparing the safety and accuracy of chorionic villus sampling (CVS) in the first trimester of pregnancy with amniocentesis in the second trimester for the prenatal diagnosis of genetic disorders. Women in their first trimester of pregnancy will be recruited from the patient population at the Mount Sinai Medical Center, its affiliated hospitals, and the greater New York metropolitan area. Non-directive genetic counseling will be provided, and informed consent will be obtained. Participating patients will be randomized for CVS or amniocentesis. It is anticipated that 10 to 30 women per month will be randomized during Phase II and that 20 to 40 women per month will be randomized during Phase IIIa. CVS and amniocentesis will be performed with sonographic guidance. Specimens will be carefully prepared for cytogenetic and, when indicated, appropriate biochemical analyses. Efforts will be directed to determine the extent of maternal contamination and/or mosaicism in chorionic villi specimens analyzed directly and after culture. In addition, the physicokinetic properties of various enzymes will be compared in normal chorionic villi and amniocytes in order to identify differences which would provide inaccurate diagnostic results. Follow-up studies (Phases IIIb and IV) will include the confirmation of all CVS results by appropriate studies of cultured amniotic fluid cells obtained by amniocentesis, specimens from induced abortion material or specimens obtained from newborns monitored for indications other than advanced maternal age. Clinical evaluations will be performed on all monitored infants in the newborn nursery and at 6 months of age. In addition, cytogenetic and pathologic studies will be performed on spontaneous abortus material to identify cytogenetic abnormalities and/or malformations. The data from these studies, including the frequency of spontaneous abortions, will be collected for the multicenter analysis of the accuracy and safety of CVS vs. amniocentesis for prenatal diagnosis.