COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS

这项提议的总体目标是参与新的排雷中心。 多中心合作临床中的合作协议计划 绒毛取材(CVS)安全性和准确性的比较研究 在妊娠的前三个月，在第二个月进行羊膜穿刺术 用于遗传疾病产前诊断的三个月。身穿女装的女性 将从患者群体中招募怀孕前三个月的人 在西奈山医疗中心及其附属医院，以及 大纽约大都市区。非指导性遗传咨询将 提供，并将获得知情同意。参与治疗的病人 将被随机用于脑血管痉挛或羊膜穿刺术。预计10至10岁 在第二阶段，每月将随机抽取30名妇女，其中20至40名 每月的妇女将在IIIa阶段被随机分配。CVS和 羊水穿刺术将在超声引导下进行。标本将会 仔细准备细胞遗传学，并在适当的情况下 生化分析。将作出努力，以确定 绒毛标本中的母体污染和/或嵌合体 直接分析和培养后分析。此外，物理动力学 我们将比较正常绒毛中各种酶的性质。 和羊膜细胞，以确定将提供 诊断结果不准确。后续研究(第三阶段b和第四阶段)将 包括通过适当的研究确认所有CVS结果 通过羊膜穿刺术获得培养的羊水细胞，标本来自 人工流产材料或从被监测的新生儿身上获得的标本 除高龄产妇外的其他指征。临床评估将是 在新生儿托儿所和6个月时对所有被监测的婴儿进行检查 年纪大了。此外，还将进行细胞遗传学和病理学研究。 自然流产鉴定细胞遗传学异常材料的研究 和/或畸形。这些研究的数据，包括频率 自然流产，将被收集用于多中心分析 CVS与羊膜腔穿刺术产前诊断的准确性和安全性比较。

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.