[Cytogenetic studies of chorionic villi tissue of abortion samples].
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Abortion, Induced↗
Biomedical subjects
B Eiben
Publications and source records attributed to B Eiben.
A cytogenetic study directly from chorionic villi of 140 spontaneous abortions.
Spontaneous abortions were studied by analyzing chromosomes directly from chorionic villi. The frequency and the type of anomalies detected among 140 abortuses are in good agreement with those observed by others using conventional tissue cultures. Abnormal karyotypes were found in 48.6% of the cases. Trisomy predominated (66.2%), followed by polyploidy (22.1%), monosomy X (7.4%), and structural anomalies (4.4%). Among the trisomies, the most prevalent were of chromosome 22 (22.2%), 16 (22.2%), and 13 (9.5%). The relative frequencies of trisomies, monosomy X, and the different chromosomes involved in trisomies seem to differ between our study and those in which tissue cultures were analyzed. Our low frequency of 45,XO karyotypes and the shift to trisomies of chromosomes whose involvement increases steeply with maternal age are considered due to the approximately 3 year higher mean maternal age in our sample. The sex ratio (male to female) in chromosomally abnormal abortuses was 1.28, which is nearly identical to the 1.2 found in earlier studies. Surprisingly, in chromosomally normal abortions males were significantly outnumbered by females (sex ratio 0.76). Since maternal cell contamination cannot have influenced the sex ratio in our study, we consider it worthwhile to investigate whether failures associated with X inactivation are responsible for pregnancy wastage of some euploid female conceptuses. Knowledge of the karyotypes may serve as a prerequisite for the investigation of non-chromosomal genetic causes of pregnancy wastage.
Abortion, Spontaneous↗
Rapid cytogenetic diagnosis of early spontaneous abortions.
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Abortion, Spontaneous↗
Seasonal variations of serum 1,25-dihydroxyvitamin D3 and alkaline phosphatase in relation to the antler formation in the fallow deer (Dama dama L.).
Serum 1,25-dihydroxyvitamin D3 and serum alkaline phosphatase increased several fold during the antler formation period in July. Both maxima were observed in the second half of the antler formation period, where the mineralization of the antler takes place. In contrast serum levels of calcium and 25-hydroxyvitamin D3 showed no alternation or seasonal variation.
Age Factors↗
[Clinical study of assessment of trisomy 21--precise risk evaluation in the first trimester of pregnancy].
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↗
Nekrozoospermia in mosaic Klinefelter's syndrome.
A patient with nekrozoospermia is presented. His clinical, andrological and endocrinological data are described. Cytogenetically a complex chromosomal mosaic of 46,XX; 46,XY; 47,XXY and 48,XXXY was found.
Adult↗
High incidence of minor chromosomal variants in teratozoospermic males.
Chromosomal analysis was performed on 109 males with teratozoospermia. Four cases of anomaly were found, including three cases of mosaic Klinefelter's syndrome and one balanced autosomal translocation. Among chromosomal heteromorphisms, 9qh+ was found in 25% of the patients. The fraction of malformed spermatozoa in the semen of the 9qh+ group is significantly higher than in the chromosomally normal group. It is speculated that heterochromatic variants like 9qh+ could be one of several unknown factors disturbing normal gametogenesis.
Chromosome Aberrations↗
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↗
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↗