title: [Diagnostic chorionic biopsies in the first trimester. Report of experiences over a 2 year period].
abstract: 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.
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling / Q000379:methods*; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012307:Risk Factors; D014463:Ultrasonography
vernacular_title: Diagnostische Chorionbiopsien im ersten Trimester. Erfahrungsbericht aus einem Zweijahreszeitraum.