Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation

Between May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at the First Department of Obstetrics and Gynaecology,‘L. Mangiagalli’ of the University of Milan and at the Department of Obstetrics and Gynaecology of ‘Gaslini’ hospital in Genoa. A total number often abnormal fetal karyotypes were diagnosed. In addition, one case of pseudomosaicism (not confirmed on fetal blood) and one case of osteogenesis imperfecta type II (observed at ultrasound examination) were also detected. Eleven pregnancies were therefore terminated because of an abnormal fetus. Out of 494 pregnancies (excluding terminated pregnancies) there were 16 fetal losses within the 28th week; ten of these occurred in the 2 weeks following the procedure. There were 475 live-births, of which 447 were term deliveries and the other 28 deliveries occurred before the 37th week of gestation.     

Transvaginal chorionic villus sampling

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.     

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Forecasting Air Pollution Potential: A Synoptic Climatological Approach

ABSTRACT

This paper describes the development and application of an air pollution potential (APP) forecast model based on a synoptic climatological approach in a heavily industrialized area in Durban, South Africa. The aim of the forecasting procedure, based on a system of orange, red, and all-clear alerts, was to give industry advance warning of periods of poor atmospheric dispersion so that it could take action to reduce emissions. The key meteorological parameter in accurately identifying the commencement of an APP episode was found to be negative surface pressure tendency. Wind direction was the most useful parameter in estimating the end point of an APP episode. The model was very successful in identifying periods of elevated SO₂, but there is a need for further refinement in forecasting the end point of an episode.     

Black Carbon Aerosol at McMurdo Station,Antarctica

ABSTRACT

Aerosol light absorption as black carbon (BC) was measured from November 19, 1995, to February 6, 1996, at a location 0.65 km downwind of the center of McMurdo Station on the Antarctic coast. The results show a bimo-dal frequency distribution of BC concentrations. Approximately 65% of the measurements were found in a mode at a low range of concentrations centered at ~20 ng/m³. These concentrations are higher than those found at other remote Antarctic locations and probably represent contamination from the station. The remaining measurements were in a high-concentration mode (BC ~300 ng/m³), indicating direct impact of local emissions from combustion activities at the station. High values of BC were associated with winds from the direction of the station, and the BC flux showed a clear directionality. Maximum BC concentrations occurred between 7:00 and 11:00 a.m. The "polluted" mode accounted for more than 80% of the BC frequency-weighted impact at this location.