Schütz M, Knoll W, Grabow D, Kraemer M, Seidlitz G, Wehnert M, Petruschka L, Grimm U
Klinik und Poliklinik für Gynäkologie und Geburtshilfe, Ernst-Moritz-Arndt-Universität Greifswald.
Zentralbl Gynakol. 1988;110(14):872-6.
We report about 58 ultrasonographically guided transcervical chorionic villus biopsies from January 1985 to November 1987. Maternal age greater than 35 years (n = 28), followed by trisomy 21 or 18 (n = 10) were the mean indications. Biochemically evaluation of storage diseases (n = 6) and genomically DNA-analysis because of phenylketonuria (n = 2) were combined in each case with cytogenetic diagnosis. In the other cases certain indications were the reasons for biopsy. In 52 of 58 cases we were successful in biopsies and diagnoses. In the other 6 biopsy specimen we didn't found chorionic villi. 3 abortions we observed up to day 3 after operation (n = 3) and after 6 weeks (n = 1). Pathological findings were 1 trisomy 16, 1,47,XYY-karyotype and 1 embryo with phenylketonuria. Another reason for termination of pregnancy was male karyotype in a Morbus Duchenne-risk and 1 risk for Rett-syndrome. Meanwhile 30 healthy babies were born.
我们报告了1985年1月至1987年11月间58例超声引导下经宫颈绒毛取样活检的情况。主要指征为孕妇年龄大于35岁（28例），其次是21三体或18三体（10例）。每种情况下，对储存疾病的生化评估（6例）和因苯丙酮尿症进行的基因组DNA分析（2例）均与细胞遗传学诊断相结合。在其他病例中，特定指征是活检的原因。58例中有52例活检及诊断成功。在另外6例活检标本中未发现绒毛。我们观察到术后3天内有3例流产（3例），6周后有1例流产。病理结果为1例16三体、1例47,XYY核型以及1例患有苯丙酮尿症的胚胎。终止妊娠的另一个原因是杜氏肌营养不良风险中的男性核型以及1例雷特综合征风险。同时，有30名健康婴儿出生。
