Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Antenatal diagnosis and palliative treatment of non-immune hydrops fetalis secondary to fetal parvovirus B19 infection

Hydrops fetalis was diagnosed at 22 weeks. An ultrasound examination demonstrated cardiomegaly and a fetal blood specimen obtained by cordocentesis revealed thrombocytopenia, anaemia, and neutropenia. Fetal paracentesis yielded straw-coloured fluid with electrolytes indicative of a transudate. Non-enveloped icosahedral viral particles approximately 23 mm in diameter were visualized in the ascitic fluid by electron microscopy. Immune electron microscopy confirmed human parvovirus B19. Direct fetal digitalization led to a reduction in umbilical artery resistance, a decline in the abdominal circumference from 20·3 to 17·8 cm, and resolution of the ascites within 72 h. Despite this dramatic response to therapy, fetal death occurred on day 5 of treatment. The initial maternal serum was positive for anti-B19 IgM and IgG antibodies. Electron microscopy of fetal cardiac tissue obtained post-mortem revealed intranuclear viral particles typical of B19, confirming the antenatal diagnosis of myocarditis. This case demonstrates that direct viral identification is applicable to prenatal diagnosis. To our knowledge, this is the first reported case of the antenatal diagnosis and palliative treatment of fetal viral infection.     

Recurrence risk of neural tube defects following a miscarriage

Data from 280 sibships in three published series were used to see if the increased risk of neural tube defect (NTD) associated with having had a miscarriage in the immediately preceding pregnancy was also found in women with a previous affected pregnancy. A statistically significant relative risk of 4.0 (2-tail P=0.0111, Fisher exact test) was found among such women, and this could not be accounted for by the effect of parity or of a history of miscarriage in general. The finding may be useful when counselling patients.     

Scots pine needle surfaces on radial transects across the north boreal area of Finnish Lapland and the Kola Peninsula of Russia

To gain an understanding of the characteristics of the needle surfaces of naturally regenerated Scots pine (Pinus sylvestris L.) and their geographical distribution, eight physicochemical variables were investigated within the north boreal forest area. The visibly undamaged needles were collected in autumn 1990 from 114 plots (3-5 pines per plot) along radial transects from the Monchegorsk and Nikel smelters, emitting SO2 and heavy metals, on the Kola Peninsula, Russia, to Finnish Lapland. The needles were examined by scanning electron microscopy (SEM) and measured for surface wettability using the droplet contact angle (DCA) method. Significant geographical south-north and west-east patterns could be observed in needle surface characteristics, correlating with emissions from the smelters and to climate. Despite the slightly higher initial DCAs (61.4-87.6 degrees) towards the north, the pine needle surfaces of the northernmost transects exhibited higher annual needle wettability change (ANWC) and wax erosion rate (AWER), expressed as the reduction in DCAs and epistomatal wax tube distribution (WTD) during one year, respectively, but a lower occurrence of particles and fungal hyphae than those of more southern transects. The higher ANWC was related to higher atmospheric SO2 concentration, and to the lower long-term temperature sum, but not clearly to annual precipitation. In the Monchegorsk smelter area, the current needles exhibited, on average, a 15% higher WTD and seven degree larger DCA, resulting in more hydrophobic needle surfaces than in Finnish Lapland, but during their first year, both the AWER and ANWC, were greatly increased. In Finnish Lapland, 30%, of all the epistomatal wax tubes disappeared from the needle surface during the first year, the value being 70% for the pines located 8 km from the smelter. The mineral composition of the particles deposited on the needle surfaces mirrored that of the minerals being produced by the smelters (e.g. FexSx, CuFeS2, NixSx, FexOx). Stomatal densities were in the range of 71.1-141.7 stomata mm(-2). The lower densities of stomata on needles close to the smelters correlated with reduced number of needle age classes of the pines, higher dry weights, higher pollutant accumulation and lower Mn and Zn concentrations in the needles. The AWER and ANWC were able to indicate the most seriously deteriorated needle surfaces on a regional scale, e.g. including the surroundings of both smelters, although the plot-specific relationships between 'needle surface variables' and 'pollution variables' were generally weak. The present study showed that the exposure of pine needles to the combined effects of ambient pollutants and harsh climate led to a deterioration in the physicochemical characteristics of the epicuticular wax, which may have serious ecophysiological consequences in the long term.     

Vertical gradients of ozone and carbon dioxide within a deciduous forest in Central Pennsylvania

Ambient concentrations of ozone (O(3)) and carbon dioxide (CO(2)) were measured at locations from the forest floor to the top of the canopy in a deciduous forest at the Moshannon State Forest in northcentral Pennsylvania. O(3) concentrations were measured from May-September for three years (1993-1995) while CO(2) concentrations were measured only during July and August of 1994. O(3) concentrations increased steadily during the day at all locations, peaking during the middle to late afternoon hours. O(3) concentrations then steadily declined to their lowest point, just before dawn. Vertical O(3) concentration gradients varied seasonally and among years. However, O(3) concentrations were highest within the forest canopy and lowest at the forest floor, with an average difference of approximately 13%. Differences in O(3) concentrations between the canopy and forest floor were greatest at night. O(3) concentrations were slightly higher at locations within the canopy than above the canopy. CO(2) concentrations were consistenly higher near the forest floor and were higher above the canopy than within the canopy. CO(2) concentrations were higher at night than during the day at all locations, especially near the forest floor.     

The uptake of particulates by an urban woodland: site description and particulate composition

Woodlands may improve local air quality by increasing the uptake rates of gaseous, particulate and aerosol pollutants from the atmosphere and can also act as relatively permanent sinks for some pollutants. Rough Wood, Walsall was selected for a study of the material which accumulates on tree foliage because of its location in a densely populated urban area, and its proximity to a motorway with high traffic flow (the M6) and to other pollutant sources. Methods were developed for leaf washing to allow determination of the quantity of dust and the identification of the dust particles present on oak leaves. Elemental analysis of particles was also undertaken using scanning electron microscopy coupled with electron probe microanalysis. A large proportion of particles were organic in origin. Of the inorganic particles, the majority contained silicon and aluminium in varying proportions suggesting that they were soil derived. Some particles were clearly identified as the products of combustion, and sea or road salt was present on leaf surfaces. Some particles contained copper, tin and titanium which may reflect the proximity of Rough Wood to local metal workings. The number of particles counted on leaf surfaces decreased as distance from the motorway increased.