Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.     

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent).     

Fetal ductus venosus flow velocity waveforms and maternal serum afp before and after first-trimester transabdominal chorionic villus sampling

Doppler flow velocity waveform recording in the fetal ductus venosus and umbilical artery as well as maternal blood sampling for serum alpha-fetoprotein (MSAFP) was performed before and after transabdominal chorion villus sampling (TACVS) in 36 women of advanced maternal age (≥ 36 years). Gestational age ranged between 11 and 13 weeks. No chromosomal anomaly was detected. No statistically significant difference was observed in ductus venosus velocity parameters or in the umbilical artery pulsatility index (PI) before and after CVS in 35 women with a normal pregnancy outcome. One case resulted in fetal loss. Post-CVS median MSAFP levels at 12 weeks (25 kIU/1) and 13 weeks (35 kIU/1) were significantly higher than pre-CVS levels. In three cases, post-CVS MSAFP levels were higher than 600 kIU/1, correlating with feto-maternal transfusions of approximately 1.0–1.4 ml, i.e., of around 40 per cent of feto-placental blood volume. One of these cases displayed absence of fetal peripheral blood flow velocities and fetal bradycardia following TACVS, resulting in fetal loss 1 week later. The remaining two cases had a normal pregnancy outcome, but showed a more than 50 per cent reduction in ductus venosus velocity after TACVS, whereas umbilical artery PI remained unchanged. However, similar velocity changes were associated with only small feto-maternal transfusions. Umbilical artery PI values remained unchanged.     

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.     

Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation,using trans vaginal sonography

Two fetuses with heart abnormalities were detected by transvaginal sonography at 14 weeks of gestation. In the first fetus, a ventricular septal defect and an overriding aorta were detected and a diagnosis of tetralogy of Fallot was suggested. In addition, cystic hygroma and omphalocoele were visualized and the cytogenetic study revealed trisomy 18. In the second fetus, ventricular septal defect, pericardial effusion, and omphalocoele were detected.     

Tertiary centre referral of small-for-gestational age pregnancies: A 10-year retrospective analysis

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.     

GENETIC PROGRAMMING AND ITS APPLICATION IN REAL‐TIME RUNOFF FORECASTING1

ABSTRACT: Genetic programming (GP), a relatively new evolutionary technique, is demonstrated in this study to evolve codes for the solution of problems. First, a simple example in the area of symbolic regression is considered. GP is then applied to real‐time runoff forecasting for the Orgeval catchment in France. In this study, GP functions as an error updating scheme to complement a rainfall‐runoff model, MIKE11/NAM. Hourly runoff forecasts of different updating intervals are performed for forecast horizons of up to nine hours. The results show that the proposed updating scheme is able to predict the runoff quite accurately for all updating intervals considered and particularly for updating intervals not exceeding the time of concentration of the catchment. The results are also compared with those of an earlier study, by the World Meteorological Organization, in which autoregression and Kalman filter were used as the updating methods. Comparisons show that GP is a better updating tool for real‐time flow forecasting. Another important finding from this study is that nondimensionalizing the variables enhances the symbolic regression process significantly.     

Effects of sludge-amendment on mineralization of pyrene and microorganisms in sludge and soil.

Hydrophobic contaminants sorb to sludge in wastewater treatment plants and enter the soil environment when the sludge is applied to agricultural fields. The mineralization of pyrene was examined in soil, in sludge mixed homogeneously into soil, and in sludge-soil systems containing a lump of sludge. Sludge-amendment enhanced the mineralization of pyrene in the soil compared to soil without sludge, and the most extensive mineralization was observed when the sludge was kept in a lump. The number of protozoa, heterotrophic bacteria and pyrene-mineralizing bacteria was much higher in the sludge compared to the soil. The amendment of sludge did not affect the number of protozoa and bacteria in the surrounding soil, which indicated that organic contaminants in the sludge had a little effect on the number of protozoa and bacteria in the surrounding soil.     

Estimation and simulation for geospatial porosity and permeability data

Reservoir simulation of \(\hbox {CO}_2\) sequestration, energy recovery, and environmental contamination scenarios must be accompanied by uncertainty quantification. Typically this is done by stochastically modeling porosity and permeability fields, simulating realizations based on the model, and then numerically simulating flow and transport. The challenge is to generate simulated porosity and permeability fields with characteristics as similar as possible to those known of the reservoir under study. In this paper we focus on the first two steps above in analyzing a large 3-dimensional array of geospatial porosity data and using the results to produce simulated data with characteristics mimicking those of the original porosity observations. The spatial covariance is empirically approximated from horizontal cross sections of the data via a kernel principle component analysis yielding dimension reduction. Simulations in three dimensions are produced by linking consecutive parallel cross sections via conditioning on a small subarray of the data. The conditional simulations effectively reproduce observed channeling, an important large scale feature of interest in the sub-surface relevant to transport of contaminates. The original porosity data is non-Gaussian and requires additional analysis and transformation to generate both porosity and permeability fields.     

Minimizing Collision Risk Between Migrating Raptors and Marine Wind Farms: Development of a Spatial Planning Tool

An increased focus on renewable energy has led to the planning and construction of marine wind farms in Europe. Since several terrestrial studies indicate that raptors are especially susceptible to wind turbine related mortality, a Spatial Planning Tool is needed so that wind farms can be sited, in an optimal way, to minimize risk of collisions. Here we use measurements of body mass, wingspan and wing area of eight European raptor species, to calculate their Best Glide Ratio (BGR). The BGR was used to construct a linear equation, which, by the use of initial take-off altitude, could be used to calculate a Theoretical Maximum Distance (TMD) from the coast, attained by these soaring-gliding raptor species. If the nearest turbine, of future marine wind farms, is placed farther away from the coast than the estimated TMD, the collision risk between the turbine blades and these gliding raptors will be minimized. The tool was demonstrated in a case study at the Rødsand II wind farm in Denmark. Data on raptor migration altitude were gathered by radar. From the TMD attained by registered soaring-gliding raptors in the area, we concluded that the Rødsand II wind farm is not sited ideally, from an ornithological point of view, as potentially all three registered species are at risk of gliding through the area swept by the turbine rotor blades, and thereby at risk of colliding with the wind turbines.