BACKGROUND: In the past a non invasive risk analysis for detecting specific chromosomal aberrations was only possible from week 15 of pregnancy. In this paper the practicability of first trimester screening is analysed. MATERIAL AND METHODS: Blood samples were taken from 1000 pregnant women before a invasive prenatal diagnosis was performed. Total hCG, free beta-hCG and PAPP-A (pregnancy associated plasma protein A) was analysed. These data were combined with complete cytogenetic and ultrasonographic (CRL and nuchal translucency--NT) data. RESULTS: In more than 90% of cases the NT was below 3 mm. Here the rate of normal karyotypes was 97.8%. In 61 cases a abnormal karyotype was found. Here in the most cases we found an elevated NT. Also in the most cases of trisomy 21 and 18 and in triploidies a characteristic ratio of hCG/free beta-hCG and PAPP-A was discovered. Combining NT and biochemical analysis, 85% of trisomies 21 could be discovered as a risk group. CONCLUSIONS: This study demonstrates the possibilities of first trimester screening with a high detection rate for specific chromosomal aberrations. DISCUSSION: First trimester screening should only be performed in specialised centers because determination of NT and risk analysis needs extensive experience.

Chorionic Gonadotropin↗

PubMedDate not supplied

Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases.

OBJECTIVE: A new method in prenatal diagnostics allows to demonstrate certain numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to conventional methods which take 1-3 weeks. MATERIALS: The experience with this rapid fluorescence in situ hybridization (FISH) method is compared to standard karyotyping and its clinical relevance is described in a large clinical pilot study. FISH on uncultured amniocytes has been performed from 12 weeks of gestation to the third trimester using commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. RESULTS: FISH was performed successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis. Neither false-positive nor false-negative results were obtained using FISH. For all analyzable disorders the FISH results were in complete agreement with standard cytogenetics. CONCLUSIONS: In our experience, FISH is a valuable and reliable method for rapid diagnosis of numeric chromosomal aneuploidies.

Adult↗

PubMedDate not supplied

On the complication risk of early amniocentesis versus standard amniocentesis.

In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (between weeks 11 and 14) and 1,808 standard amniocenteses were performed in low-risk indication groups (advanced maternal age and anxiety). A complete follow-up including reports of fetal outcome was obtained in 4,444 cases (87.5%). A pregnancy age-related abortion rate was determined with a slightly higher rate of abortions up to week 28 of gestation in early amniocentesis. The total abortion rate up to week 28 after the procedure for cases with complete follow-up was 2% in early amniocentesis. Compared to standard amniocentesis performed under the same clinical conditions with an abortion rate of 1.3%, there is no statistical difference between early and standard amniocentesis (p = 0.0971). Hip and foot dislocations (22 cases) and pulmonary distress syndromes (8 newborns) showed no significant correlation with the gestational week. Given the high normal background rate of spontaneous abortions in the early period of pregnancy without an invasive procedure, early amniocentesis can be considered as a safe alternative to chorionic villus sampling and standard amniocentesis.

Abortion, Induced↗

PubMedDate not supplied

[Joint scintigraphy using 99mTc pyrophosphate].

Joint scintigraphy was performed in 85 patients suffering from a variety of rheumatic diseases, using a gamma camera and line scanner. Tc-pyrophosphate was the radio nuclide employed; it accumulates selectively in the juxta-articular parts of the bone. The method provides an objective demonstration of inflammatory and degenerative rheumatic joint changes. More over scintigraphic changes can be demonstrated in joint disease which is too early to be clinically apparant or before there are any corresponding changes in serological parameters. The method is useful both in the localisation and staging of disease, in the evaluation of treatment and as an objective control of clinical skills.

Arthritis, Infectious↗

PubMedDate not supplied

[The radio immune level of total serum oestriol during pregnancy. An examination of the method and comparison of the concentrations of total serum oestriol, non-conjugated serum oestriol and the excretion of total urinary oestrogens (author's transl)].

The authors report on a preliminary study of the level of total serum oestriol in the third trimester of pregnancy by the bundle method of estimating this with "oestriol 1251 RIA Kit" (Amersham, Buchler). The criteria on which the quality of the method depends, viz, sensitivity, specificity, reliability, and accuracy, together with its practicability are satisfactory. Correlations between total serum oestriol and free serum oestriol and total urinary oestrogens are good and correspond with those given in the literature. This method therefore can be used in clinical practice. All the same, it still has to be established which parameter better reflects the feto-placental state. Is it the free serum oestriol or the total serum oestriol?

Estriol↗

PubMedDate not supplied

[Kidney function studies with radioisotopes in arthritis urica].

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Adult↗

PubMedDate not supplied

[Scintigraphy of joints with Tc99m-pertechnetate].

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Humans↗

PubMedDate not supplied

[Coumarin therapy during antirheumatism therapy with sulindac].

Possible interactions between the new non-steroidal antirheumatic drug Sulindac and a coumarin derivative have been investigated. 20 subjects, who required anticoagulation therapy for a variety of medical conditions, were treated for 4 consecutive weeks with Sulindac at varying dosages (200-400 mg per day). Prothrombin time, Thrombotest and bleeding time were not significantly affected by the concurrent administration of Sulindac. It can be concluded that there is no clinically important interaction between phenprocoumon and the doses of sulindac that are considered effective in rheumatic disorders. There were some moderate side effects, only one drop out was registered because of gastro-intestinal bleeding (melaena).

4-Hydroxycoumarins↗