Mitigation and Adaptation Strategies for Global Change

Mitigation and Adaptation Strategies for Global Change -     

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.     

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.     

First observation of different diffusion coefficients for two conformers in a neat liquid

 Self-diffusion coefficients were studied for the highly polar liquid N-methylformamide at pressures up to 200 MPa between the melting pressure curves and 420 K by the spin-echo method. N-Methylformamide exists as a mixture of two conformers in the neat liquid. These conformers have large differences at lower temperatures in their dynamic and structural properties. The self-diffusion coefficient of the cis-conformer being 17% lower than that of the trans-conformer at the same T and p. This is the first observation of such an effect. The experimental study is supported by Monte Carlo (MC) calculations which show that the first neighbors around a cis conformer are arranged differently than in an all trans liquid. The difference leads in the simulations to a much lower dielectric constant for the trans-cis mixture and might also explain the retardation of diffusion for the cis conformer. Received: 15 November 1999 / Accepted in revised form: 28 February 2000