The "pipette method' is introduced as a method of prenatal diagnosis which is in competition with the "in situ' and the "trypsinization' technique. It is sufficiently standardized for routine diagnosis and the banding techniques currently used in prenatal diagnosis (G, Q, C-banding and NOR) have been adapted for it. In 180 cases from 27 different centres, the "pipette method' was employed for chromosomal harvesting in order to save time. An average of 6 X 6 days was taken to achieve a result. There was a pathological karyotype in 28 cases (16.1 per cent) and this high proportion can be related to cases where ultrasound scan has led to a diagnosis of "suspected chromosomal abnormality.' This technique is also of use in advanced stages of pregnancy. The early recognition of the fetal karyotype can contribute to the future management of the pregnancy. The "pipette method' can also be used in chromosomal harvesting of tumour cells and fibroblast cultures.

Chromosome Aberrations↗

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Analysis of the tumor suppressor gene p16(INK4A) in microdissected melanoma metastases by sequencing, and microsatellite and methylation screening.

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DNA↗

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Monilethrix--improvement by hormonal influences?

Monilethrix is a hereditary hair disorder that occurs monosymptomatically or as a monilethrix syndrome combined with other ectodermal anomalies. We report two siblings with the triple combination of monilethrix, keratosis pilaris, and koilonychia. In one of our patients, the hair disorder improved, with maximum hair growth up to 8 cm in length after her first menstrual period occurred, suggesting that hormonal influences may improve the hair disorders in monilethrix.

Child↗

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Applicability of four new antibodies for the detection of fetal nucleated cells out of maternal blood by FISH analysis.

The availability of fetal cells from the maternal peripheral blood opens up the possibility for a noninvasive prenatal diagnosis. Until now this prospect has been hampered by the fact that there are no highly specific antibodies to fetal cells. In the present study, four as yet untested monoclonal antibodies - 2G5, 3F9, EPO-R and Flk1 - were analyzed in view of their effectiveness to stain fetal nucleated cells. Therefore, 20 ml of peripheral blood from 40 women carrying a male fetus were collected in the 16th to 28th weeks of pregnancy. Mononucleated cells, enriched by density gradient, were stained with one of the four antibodies and isolated with magnetic cell sorting. Subsequently, fluorescence in situ hybridization with chromosome X and Y centromere probes was performed which allowed us to analyze the maternal or fetal origin of the enriched cells. For evaluation, 500 nuclei per case were examined. The antibody 3F9 detected 0.2 cells on average (n = 5), 2G5 1.2 (n = 11), EPO-R 1.6 (n = 10) and Flk1 1.8 cells (n = 8) with fetal specific Y-positive hybridization signals. The antibody against CD71 (n = 6) used as control gave no Y-specific signals. Considering these results, the tested antibodies, especially Flk1, appear to be more successful in detecting fetal cells than the commonly used CD71 antibody.

Antibodies, Monoclonal↗

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Prognostic significance of mutations in the p53 gene in superficial bladder cancer.

Bladder tumors as the most common urologic malignancy present mostly as superficial transitional cell carcinoma. Many patients with superficial bladder cancer have a good prognosis, however, may develop recurrences or progress to muscle invasive or metastatic disease. It is therefore important to find new markers associated with the biological behaviour of an individual tumor for identifying patients at risk for disease progression. Previous reports on the prognostic significance of p53 alterations in bladder tumors revealed conflicting results. The aim of our study was to evaluate p53 mutation analysis as an effective concept for the characterization of subsets of superficial bladder tumors differing in biological aggressiveness. Screening 66 amplified DNA from micro-dissected tumor cells by direct genomic sequencing p53 alterations were detected in 12%. We found no association between p53 status and tumor stage but a tendency to a higher mutation rate in more malignant tumors (G2 and G3) compared to G1 tumors and a higher recurrence rate in patients with a p53 mutation in the primary tumor after 24 months follow-up. We conclude a general low incidence of p53 mutations in superficial bladder cancer. Detectable p53 damage might be related to a more aggressive phenotype and a higher recurrence risk. Our results are discussed in the context of other studies reviewed from 1995-2000.

DNA Mutational Analysis↗

PubMedDate not supplied

The pipette-method: its application to cytogenetic studies of tumor cells cloned in semisolid media.

A simple method is herein described which allows easy cytogenetic analyses of human tumor cells grown in semisolid media. The quality of the metaphases is relatively good, comparable with that reached by using conventional cytogenetic methods. Therefore, the demonstration of G-, Q-, C-bands, and nucleolus organizing regions (NOR) is possible without any problems. Its particular advantage, however, lies in the fact that single colonies can be removed under sterile conditions at different stages of cell culturing.

Cell Line↗