Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy

A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post-mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.     

Role of the floodplain lakes in the methylmercury distribution and exchanges with the Amazon River, Brazil

Seasonal variability of dissolved and particulate methylmercury(F-MeHg, P-MeHg) concentrations was studied in the waters of the Amazon River and its associated Curuai floodplain during hydrological year 2005–2006, to understand the MeHg exchanges between these aquatic systems. In the oxic white water lakes, with neutral pH, high F-MeHg and P-MeHg concentrations were measured during the rising water stage(0.70 ± 0.37 pmol/L, n = 26) and flood peak(14.19 ± 9.32 pmol/g, n = 7) respectively, when the Amazon River water discharge into the lakes was at its maximum. The lowest mean values were reported during the dry season(0.18 ± 0.07 pmol/L F-MeHg, n = 10 and 1.35 ± 1.24 pmol/g P-MeHg, n = 8), when water and suspended sediments were outflowing from the lakes into the River. In these lakes,the MeHg concentrations were associated to the aluminium and organic carbon/nitrogen changes. In the black water lakes, with acidic pH and reducing conditions, elevated MeHg concentrations were recorded(0.58 ± 0.32 pmol/L F-MeHg, n = 16 and 19.82 ± 15.13 pmol/g PMeHg, n = 6), and correlated with the organic carbon and manganese concentrations. Elevated values of MeHg partition coefficient(4.87 Kd 5.08 log(L/kg) indicate that MeHg is mainly transported associated with the particulate phase. The P-MeHg enrichment detected in all lakes suggests autochthonous MeHg inputs from the sediments into the water column. The MeHg mass balance showed that the Curuai floodplain is not the source of P-MeHg for the Amazon River.     

Temperature and metabolic rate in sedentary fish from the Antarctic,North Sea and Indo-West Pacific Ocean

Resting metabolic rate was measured in demersal stages of the teleostNotothenia neglecta Nybelin from the South Orkney Islands, Antarctica, from 1985 to 1987. The relationship between and body mass (Mb) conformed to the general relationship , wherea is a proportionality constant andb is the scaling exponent. (mg O₂ h^–1) was found to scale toMb ^{(0.82±0.011)} in the summer (November to April, 1.6 to 1 850 g,n=56) and toMb ^{(0.76±0.013)} in the winter (May to October, 0.9 to 1 850 g,n=57) (values ofb are means ± SD). Although the scaling exponents were significantly different (P<0.01), was similar in the juvenile stages of summer- and winter-caught fish matched for body mass. The effects of activity on oxygen consumption was studied using a Brett respirometer. Adult stages had a factorial aerobic scope for activity of 5.7, which is similar to that reported for demersal fish from temperate latitudes. The effects of temperature on resting metabolism was investigated in fish with similar sedentary lifestyles from the North Sea (Agonus cataphractus andMyoxocephalus scorpius) and the Indo-West Pacific (Paracirrhites forsteri, P. arcatus, Neocirrhites armatus andExallias brevis). Extrapolated values of for the tropical species approached zero at 5 to 10°C. For a standard 50 g fish, for the tropical species at 25°C was in the range 3.4 to 4.4 mg O₂ h^–1, compared with 1.3 mg O₂ h^–1 forNotothenia neglecta at its acclimation temperature. Thus, the maximum metabolic rate of sedentary tropical species at 24°C is likely to be 2 to 4 times higher than inN. neglecta at 0°C. This suggests that the energy available for sustained activity is significantly lower in cold- than in warm-water fish.     

Detecting neural tube defects by amniocentesis between 11 and 15 weeks' gestation

Forty-two open neural tube defects (NTDs) were identified in our series of 7440 amniocenteses tested between 11 and 15 weeks of gestation. Using a cut-off of ≥2.0 MOM, the detection rate for open NTDs was 95 per cent; 100 per cent each for anencephaly and spina bifida; and 78 per cent for encephalocele. Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs. Thirty-four (81 per cent) of these NTDs were tested between 13 and 15 weeks and 8 (19 per cent) before 13 weeks. There were 0.6 per cent false positives by AFP (excluding serious abnormalities and fetal death) and 0.1 per cent after AChE. The likelihood of an open NTD after an elevated AFP (≥2.0 MOM) was 24 and 77 per cent for any serious abnormality. These results, when combined with an earlier study, indicate that amniotic fluid AFP appears to be as sensitive a test for open NTDs between 13 and 15 weeks as between 16 and 20 weeks. Additional experience is necessary to determine this before 13 weeks.     

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.     

Prenatal exclusion of stickler syndrome

Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.     

Incremental cost-effectiveness of incorporating oestriol evaluation in down syndrome screening programmes

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost-effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE₃), especially when used in conjunction with maternal serum α-fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost-effectiveness of adding uE₃. Using the base case assumptions, including an $8 fee for the uE₃, the incremental cost-effectiveness of adding uE₃ to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE₃ in Down syndrome screening programmes.     

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.