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.     

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

Biodegradation of aliphatic and aromatic hydrocarbons by natural soil microflora and pure cultures of imperfect and lignolitic fungi

The biodegradation of aliphatic and aromatic hydrocarbons by natural soil microflora and seven fungi species, including imperfect strains and higher level lignolitic species, is compared in a 90-day laboratory experiment using a natural, not-fertilized soil contaminated with 10% crude oil. The natural microbial soil assemblage isolated from an urban forest area was unable to significantly degrade crude oil, whereas pure fungi cultures effectively reduced the residues by 26-35% in 90 days. Normal alkanes were almost completely degraded in the first 15 days, whereas aromatic compounds (phenanthrene and methylphenanthrenes) exhibited slower kinetics. Aspergillus terreus and Fusarium solani, isolated from oil-polluted areas, produced the more efficient attack of aliphatic and aromatic hydrocarbons, respectively. Overall, imperfect fungi isolated from polluted soils showed a somewhat higher efficiency, but the performance of unadapted, indigenous, lignolitic fungi was comparable, and all three species, Pleurotus ostreatus, Trametes villosus and Coriolopsis rigida, effectively degraded aliphatic and aromatic components. The simultaneous, multivariate analysis of 22 parameters allowed the elucidation of a clear reactivity trend of the oil components during biodegradation: lower molecular weight n-alkanes > phenanthrene > 3-2-methylphenanthrenes > intermediate chain length n-alkanes > longer chain length n-alkanes > isoprenoids approximately 9-1-methylphenanthrenes. Irrespective of the individual degrading capacities, all fungi species tested seem to follow this decomposition sequence.     

Influence of reduced dietary calcium on the accumulation and effects of lead, cadmium, and aluminum in birds

The influence of low dietary calcium on the accumulation and effects of dietary lead, cadmium and aluminum was examined in zebra finches and ring doves. In zebra finches fed a diet containing 0.3% Ca, the hepatic and renal accumulation of lead was enhanced approximately 400% and of cadmium about 150-200%, compared to birds fed a 3.0% Ca diet. Low dietary Ca also caused bones of female finches to lose an average of about 60% of their normal Ca content. Loss of bone-Ca was also observed in male finches, but was less than in females. In reproductively active ring doves, low (0.4%) dietary Ca enhanced the accumulation of lead and cadmium, but not of aluminum, compared with accumulation in doves consuming a 2.0% Ca diet. Enhanced accumulation of lead and cadmium was accompanied by increased synthesis of the metal-binding protein metallothionein and by greater inhibition of delta-aminolevulinic acid dehydratase activity. These results indicate that, under conditions of reduced dietary Ca availability, such as can occur in acid-impacted environments, wild birds risk increased uptake of certain toxic metals and may accumulate toxic concentrations of these metals more rapidly. Researchers should take account of dietary Ca levels when interpreting results of dosing studies in which metals such as lead and cadmium are administered to birds.     

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.