[Puncture of the chorionic villi. Technic--experiences--risks]. / Chorionzottenpunktion. Technik--Erfahrungen--Risiken.

Chorion villi biopsy is a recently introduced method for first trimester prenatal diagnosis. Based on 435 cases of chorionic villi biopsies, obtained during a 3 year period, we report our experiences with the technique of chorionic villi sampling, chromosomal analysis from trophoblast tissue and possibly associated complications, such as spontaneous abortions, vaginal bleeding, and chromosomal mosaicism. The rate of spontaneous abortions in our group of patients was 3%. This appears low, considering the high overall spontaneous abortion rate in early pregnancy of women over 35 years. The cytogenetic diagnosis is complicated by a high rate (2.8%) of chromosomal mosaicism, which were found to be not representative for the fetus, but required control amniocentesis. From our experiences with this method we conclude that chorion villi biopsy can be offered as a reliable alternative method to amniocentesis in the hands of an experienced team of obstetric surgeons and cytogenetists.

Roberts syndrome and SC phocomelia. A single genetic entity.

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.

First trimester diagnosis of Rho (D) with an immunofluorescence technique after chorionic villus sampling.

Double indirect immunofluorescence technique (DIIF) was applied to fetal erythrocytes from vascularized chorionic villi, obtained by chorionic villus sampling (CVS) in the first trimester of pregnancy, to determine the presence of Rhesus antigen Rh (D).

[Ivemark syndrome]. / Das Ivemark-Syndrom.

The Ivemark-Syndrome (Alienie Syndrome) is defined by the characteristic association of splenic aplasia, organsymmetry and other malformations especially of the cardiovascular system. More than 200 cases are reported. The incidence of Ivemark-Syndrome is very low. The aetiology is not yet clearly defined. As a main cause exogen factors between the 31st and 38th day of gestation are discussed, but a genetic cause has not been detected yet. Due to the unfavourable prognosis an intensive ultrasonographic screening is to be asked for.

[Gynecologic and cytogenetic aspects of prenatal diagnosis in the 1st trimester of pregnancy]. / Gynäkologische und zytogenetische Aspekte der Pränataldiagnostik im ersten Schwangerschafts-trimenon.

The article reports on a new method in prenatal diagnosis during the first three months of pregnancy. The gynaecological as well as the cytogenetic aspects are discussed on the basis of 74 transcervical trophoblast aspirations. Two different experimental preliminary examination series were conducted. In the first study, the failure rate in respect of recovery of material was 12.5%, whereas in the second examination series all aspirations were successful. Thanks to these favourable results, transcervical trophoblast aspiration was adopted as the only method used in prenatal diagnosis. In cytogenetic processing, direct chromosome preparation was found to be rather costly and time-consuming, whereas the short-term culture of chorionic villi usually yielded more favourable results in respect of mitotic rate and quality of the metaphase plates. It must be considered a drawback of transcervical trophoblast aspiration that it is not possible to conduct alpha-foetoprotein determination or determination of acetylcholine esterase as part of prenatal neural tube diagnosis. However, this can be subsequently done-with suitable disposition--during the 16th week of pregnancy, or can be replaced by a determination of alpha-foetoprotein in the serum of pregnant women.