Latest precambrian (Cadomian) zircon ages, Nd isotopic systematics and P-T evolution of granitoid orthogneisses of the Erzgebirge, Saxony and Czech Republic

Single zircons from two orthogneiss complexes, the Grey Gneiss and Red Gneiss, the lowermost tectonic units in the Erzgebirge, were dated. The grey Freiberg Gneiss is of igneous origin and has a ²⁰⁷Pb/²⁰⁶Pb emplacement age of 550±7 Ma. A quartz monzonite from Lauenstein contains idiomorphic zircons with a mean ²⁰⁷Pb/²⁰⁶Pb age of 555±7 Ma as well as xenocrysts ranging in age between 850 and 1910 Ma. Red gneisses from the central Erzgebirge contain complex zircon populations, including numerous xenocrysts up to 2464 Ma in age. The youngest, idiomorphic, zircons in all samples yielded uniform ²⁰⁷Pb/²⁰⁶Pb ages between 550±9 and 554±10 Ma. Nd isotopic data support the interpretation of crustal anatexis for the origin of both units. _Nd(t) values for the grey gneisses are –7.5 and –6.0 respectively, (mean crustal residence ages of 1.7–1.8 Ga). The red gneisses have a wider range in _Nd(t) values from –7.7 to –2.8 (T _DM ages of 1.4–1.8 Ga). The zircon ages document a distinct late Proterozoic phase of granitoid magmatism, similar in age to granitoids in the Lusatian block farther north-east. However, Palaeozoic deformation as well as medium pressure metamorphism ( 8 kbar/600–650° C) are identical in both gneiss units and distinguish these rocks from the Lusatian granitoids. The grey and red gneisses were overthrust by units with abundant high-pressure relicts and a contrasting P-T evolution. Zircon xenocryst and Nd model ages in the range 1000–1700 Ma are similar to those in granitoid rocks of Lusatia and the West-Sudetes, and document a pre-Cadomian basement in parts of east-central Europe that, chronologically, has similarities with the Sveconorwegian domain in the Baltic Shield.     

Dihydrorhodamine 123: a new flow cytometric indicator for respiratory burst activity in neutrophil granulocytes

This work was supported by DFG SFB 0207, project G 6.     

Direct measurement of negative pressure in artificial-biological systems

We are very grateful to A. Gessner for his great help in the construction of the apparatus and A. Meyer for performance of some pressure bomb experiments. This work was supported by grants of the Deutsche Forschungsgemeinschaft (Forschergruppe Ökophysiologie) to U.Z. and O.L.L.     

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.     

First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis-preliminary results of a controlled prospective trial

This controlled prospective study assesses the relative risks of first trimester chorionic villus sampling (CVS) versus mid-trimester gentic amniocentesis (GA). CVS subjects and amnio-centesis controls were comparable with regard to several confounding variables which might influence the risk of pregnancy loss including maternal age, smoking, alcohol consumption, gestational age at study entry, and history of vaginal bleeding or poor prior reproductive outcome. The most common indication for prenatal diagnosis was advanced maternal age (n = 511). In this subgroup, spontaneous abortion (<24 weeks) occurred in 2·9 per cent of CVS subjects versus 4−3 per cent of amniocentesis controls. The sum of spontaneous and therapeutic abortions (<24 weeks) was identical (5·3 per cent) in both groups. Therefore, intervention in the CVS group (i.e., therapeutic abortion for cytogenetic abnormalities) did not influence the observed risk of pregnancy loss. Overall perinatal mortality rates were also similar in both groups. No significant differences were identified for a number of pregnancy outcome parameters including 5 min Apgar score, birth weight, body length, head circumference, gestational age at delivery, preterm delivery, fetal growth retardation, congenital malformations, and neonatal complications. Preliminary results of this controlled prospective study suggest that chorionic villus sampling carries a low and acceptable risk.     

First trimester prenatal diagnosis of haemophilia A: Two years' experience

We evaluated the feasibility, reliability, and acceptability of prenatal diagnosis of haemophilia A by DNA analysis of chorionic villi. Twenty-two women at risk to transmit the abnormal gene were referred for prenatal diagnosis, two of them twice. Two of the 22 women appeared to be non-carriers by DNA analysis. In one of these women, the results were known only after chorionic villus sampling had been carried out. Thirteen of the twenty carriers were heterozygous for an intragenic (Bell or Xbal) marker; six women were only heterozygous for the extragenic DXS52 (Stl4) locus. One of the women was homozygous for all the presently known DNA markers within or closely linked with the factor VIII locus. Twelve of the 22 fetuses at risk were male, ten were female. Seven of the 12 male fetuses were shown to be affected and were subsequently aborted. Four male fetuses appeared to be not affected. In one case, the diagnosis was made by use of an extragenic marker. The woman rejected fetal blood sampling to confirm the diagnosis. After birth, a normal factor VIII level was found in three of the four cases. The fourth pregnancy is still continuing. In one of the 12 male fetuses, no diagnosis at the gene level was possible. DNA analysis is expected to provide maximum certainty as to the phenotype of the fetus for approximately 60 per cent of the women; for another 37 per cent a rate of misdiagnosis of 4–5 per cent applies. In only 3 per cent of the cases will no diagnosis at the gene level be possible as yet. The new possibility of a prenatal diagnosis in the first trimester of pregnancy enabled some of these women to have a family of their own and was appreciated in particular by the women who underwent fetoscopy in an earlier pregnancy.