A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions

This study describes three couples a t risk for homozygous β-thalassaemia in which one of the partners carried a short deletion β-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect β-thalassaemia mutations due to deletion or addition of more than two nucleotides.     

Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.     

Blood transferrin receptor expression in chromosomally abnormal fetuses

In a cross-sectional study of 13 chromosomally abnormal fetuses, umbilical venous blood was obtained by cordocentesis at 17–32 weeks' gestation. Fetal blood transferrin receptor (CD71) expression (mean=79·8 per cent, range=60–98 per cent) and nucleated red cell count (mean=10·4 × 10⁹ per 1, range=1·0–25·0 × 10⁹ per 1) were significantly higher than the appropriate normal mean for gestation (z=3·92, P<0·0001 and z=3·69, P<0·001, respectively). These haematological changes in chromosomally abnormal fetuses would facilitate their prenatal diagnosis by analysis of fetal nucleated red blood cells isolated from the maternal circulation on the basis of CD71 expression.     

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk

Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.     

Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding limb reduction defects (LRDs). The mean time of detection of LRDs was 26 weeks of pregnancy (range 16–32 weeks). The sensitivity of prenatal diagnosis of LRDs by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiply malformed children with LRDs, 4·0 and 18·2 per cent, respectively. For all cases of LRDs, the percentage of prenatal detection was 11·5. Termination of pregnancy was performed in 6·7 per cent of the cases.     

A new policy‐related measure of population dispersal and sparsity using GIS

Policy indicators applied at a national scale can have considerable financial impact for resource allocations to individual counties, especially if there are extreme local factors. This article develops arid explores a new measure of population dispersal and sparsity and discusses the impact of this indicator in a variety of locations, by using GIS techniques.     

The effectiveness of lane departure warning systems—A reduction in real-world passenger car injury crashes

Objective: The objective of this study was to estimate the safety benefits of in vehicle lane departure warning (LDW) and lane keeping aid (LKA) systems in reducing relevant real-world passenger car injury crashes.

Methods: The study used an induced exposure method, where LDW/LKA-sensitive and nonsensitive crashes were compared for Volvo passenger cars equipped with and without LDW/LKA systems. These crashes were matched by car make, model, model year, and technical equipment; that is, low-speed autonomous emergency braking (AEB) called City Safety (CS). The data were extracted from the Swedish Traffic Accident Data Acquisition database (STRADA) and consisted of 1,853 driver injury crashes that involved 146 LDW-equipped cars, 11 LKA-equipped cars, and 1,696 cars without LDW/LKA systems.

Results: The analysis showed a positive effect of the LDW/LKA systems in reducing lane departure crashes. The LDW/LKA systems were estimated to reduce head-on and single-vehicle injury crashes on Swedish roads with speed limits between 70 and 120 km/h and with dry or wet road surfaces (i.e., not covered by ice or snow) by 53% with a lower limit of 11% (95% confidence interval [CI]). This reduction corresponded to a reduction of 30% with a lower limit of 6% (95% CI) for all head-on and single-vehicle driver injury crashes (including all speed limits and all road surface conditions).

Conclusions: LDW/LKA systems were estimated to lower the driver injury risk in crash types that the systems are designed to prevent; that is, head-on and single-vehicle crashes. Though these are important findings, they were based on a small data set. Therefore, further research is desirable to evaluate the effectiveness of LDW/LKA systems under real-world conditions and to differentiate the effectiveness between technical solutions (i.e., LDW and LKA) proposed by different manufacturers.     

Evaluating regional sustainable development: Approaches,methods and the politics of analysis

One of the by-products of the culture of targets, performance and assessment, is the introduction of uniform methods for the evaluation of the success of policy interventions. Such an approach has been applied to attempts to evaluate regional sustainable development, often with unsatisfactory results. This paper reviews some of the fundamental requirements for the evaluation of regional sustainable development and provides research evidence that indicates the need for procedural and institutional innovation. The evidence in support of innovation reflects the need for assessment procedures and methods to be tailored-to-fit the environmental, social and economic conditions obtaining in an individual region. An additional consideration in analysing the evaluation of regional sustainable development is the extent of socio-political influence over the choice of procedures and methodologies.     

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G → C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull. Copyright © 2004 John Wiley & Sons, Ltd.