Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.     

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.     

Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty-one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Effects of air pollutants on the growth and antioxidative system of Norway spruce exposed in open-top chambers

Grafted Norway spruce trees were subjected to exposure beginning in April 1988, to one of four different air treatments in open-top chambers: Charcoal filtered air (CF), non-filtered air (NF), non-filtered air with the addition of O(3) during summer (NFO), and SO(2) plus NO(2) during winter (NFOSN). CF trees were considered as the reference group. No effects on growth parameters were observed. Samples of the two youngest needle year classes were taken late in November 1989 for enzyme determinations. The activity of ascorbic acid peroxidase (A-POD) increased the same level in all treatments, and activities of catalase and dehydroascorbic acid reductase (DHA-R) increased only in NF and NFO treatments. A higher level of activity in the NFOSN treatment was observed only for glucose-6-phosphate-dehydrogenase (Glc-6-P-DH) and non-specific peroxidase (POD). Isoelectric focusing of POD showed a changed pattern in the NFOSN treatment. Neither activity nor isoelectric focusing of superoxidase dismutase (SOD) was changed in any of the treatments.     

Research in the War Zones of Eritrea and Northern Ethiopia

The paper engages in the discussion of conducting research in war zones, initiated in Disasters by Barakat and Ellis. It looks specifically at possibilities for research in the war zones of Eritrea and Northern Ethiopia during the 1980s, and notes the ways in which this context differs from wars in the former Yugoslavia to which Barakat and Ellis mainly refer. The authors suggest that the unique context of every internal war, and the institutional actors that converge around this context, create both the potential and the demand for particular kinds of information, especially when humanitarian programmes involving international donors are under way. De-contexualising research in war zones from the specific context in which it occurs, in order to derive general guidelines, can thus be problematic.