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.     

Mangrove forest structure and productivity in the Fly River estuary,Papua New Guinea

In April, July and August 1989 and February 1990, the delta region of the Fly River was surveyed to establish the aerial extent of mangrove forests, their species composition, tree densities and basal areas, and potential net primary production. Mangrove forests cover 87 400 ha, mainly on islands within the delta. Twentynine mangrove plant species were recorded, but there were only three major forest types in the delta.Rhizophora apiculata-Bruguiera parviflora forests (hereafterRhizophora-Bruguiera forests) predominated in regions where river water salinities were >10. These forests covered 31 500 ha and had mean total tree densities and basal areas of 2027 stems ha^–1 and 21 m² ha^–1, respectively. Forests of the palmNypa fruticans (hereafterNypa forests) covered 38 400 ha, mainly in regions where river salinities were ~1 to 10, and had mean total densities and basal areas of 4431 stems ha^–1 and 38 m² ha^–1, respectively. Forests dominated byAvicennia marina and/orSonneratia lanceolata (hereafterAvicennia-Sonneratia forests) predominated on accreting banks of sediment and covered 17 500 ha. In very low-salinity (< 1) regions there are large monospecific stands ofS. lanceolata. Mean total densities and basal areas forAvicennia-Sonneratia forests were 7036 stems ha^–1 and 22 m² ha^–1, respectively. Mean net primary productivity (kg C ha^–1 d^–1) was estimated to be 26.7, 27.1 and 19.0 forRhizophora-Bruguiera, Nypa andAvicennia-Sonneratia forests, respectively. Total daily net primary production by all mangrove forests was estimated at 2214 t carbon. Using assumptions based on work in tropical Australia, it was estimated that ~678 t carbon (or 31% of primary production) were exported daily from mangrove forests to the waters of the delta.Contribution No. 550 from the Australian Institute of Marine Science     

Interpretation of roadside PM10 monitoring data from Sunderland,United Kingdom

Roadside PM₁₀ has been monitored by Partisol® at three sitesin Sunderland between August 1997 and February 1998. The sites chosen were an inner city kerbside site; a roadside site adjacentto a dual carriageway on the outskirts of Sunderland with an openaspect; and a rural site.The results indicate that there is a seasonal variation in the relationship between the sites in terms of monitored PM₁₀.In the winter there is a poor correlation between the sites whereas in the summer significant correlations are obtained. Of the sites monitored PM₁₀ is consistently highest at the inner city roadside site. During the summer, exceedances of theU.K. 50 g m^-3 standard (DETR, 2000) are associated with conditions suitable for the build-up of photochemical pollutionhowever during the winter period exceedances are recorded duringa variety of weather conditions.At the dual carriageway site PM_2.5 has also been recorded and contributions to measured PM₁₀ are 77% in summer and68% in winter. The results illustrate a number of inconsistencies between this study utilising the Partisol® andothers reporting results where PM₁₀ has been monitored by TEOM®.     

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.     

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.