The influence of obstetricians on the utilization of amniocentesis

A study of 173 Western New York State obstetricians was undertaken to study referral patterns for second-trimester amniocentesis in 1974–1978. Referral patterns were analysed in relation to obstetrician age, religion, board certification, hospital affiliation and practice location. Forty-seven per cent of the obstetricians had never referred a patient for amniocentesis. Those referring were overall younger than those not referring and were significantly more often board certified. Obstetrician religion was significantly related to referral with fewer Catholic obstetricians referring. Hospital affiliation (teaching versus non-teaching) and obstetrician practice location (urban versus rural) were not important factors after controlling for religion and board certification. Obstetrician factors account for a small but important part of the variability in referral, and other factors, such as cost and access to laboratory and obstetric care need further investigation.     

Mucolipidosis IV: Prenatal diagnosis by electron microscopy

Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un- affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.     

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.     

航天器在轨自主热故障诊断专家系统研究

航天器在轨自主进行热故障诊断对其顺利完成任务具有非常重要的意义。文中所提出的专家系统推理机制采取基于事例和基于规则相结合的方法构造;而知识获取广泛吸取历史经验和专家知识,采用产生式规则进行知识表示。最后利用VB完成了该专家系统,通过验证,发现它具有很好的实用性。     

基于顺序注射分析技术的总氮在线分析仪

针对环境监测领域,研制了一种基于顺序注射分析技术的总氮在线分析仪。该分析仪以注射泵为分析过程的液体驱动定量单元,以多通道选向阀为流路切换单元,以发光二极管和硅光电管为检测单元。在该分析平台上,含氮化合物在高温高压条件下经过硫酸钾氧化成硝酸根,硝酸根被还原为亚硝酸根后与N-(1-萘基)乙二胺盐酸盐生成偶氮染料,再由光电检测单元测定吸光度值,经计算得到总氮含量。与现有的总氮在线分析技术相比,该分析仪具有检测单元简单、生产成本低、测量精度高、试剂消耗和废液产生量少等优点,适合于环境监测等领域的长时间在线分析。     

Plant Phenology in Western Canada: Trends and Links to the View From Space

One feature of climate change is the trends to earlier spring onset in many north temperate areas of the world. The timing of spring flowering and leafing of perennial plants is largely controlled by temperature accumulation; both temperature and phenological records illustrate changes in recent decades. Phenology studies date back over a century, with extensive databases existing for western Canada. Earlier spring flowering has been noted for many woody plants, with larger trends seen for species that develop at spring's start. Implications for ecosystems of trends to earlier spring arrival include changes in plant species composition, changes in timing and distribution of pests and disease, and potentially disrupted ecological interactions. While Alberta has extensive phenology databases (for species, years, and geographic coverage) for recent decades, these data cannot provide continuous ground coverage. There is great potential for phenological data to provide ground validation for satellite imagery interpretation, especially as new remote sensors are becoming available. Phenological networks are experiencing a resurgence of interest in Canada (www.plantwatch.ca) and globally, and linking these ground-based observations with the view from space will greatly enhance our capacity to track the biotic response to climate changes.     

Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH)

Results from conventional cytogenetic studies on 21 609 amniotic fluid specimens were analyzed retrospectively to determine the residual risk for a cytogenetic abnormality if interphase FISH, capable of only detecting aneuploidy for chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. Detection rates (the probability of detecting a cytogenetic abnormality when an abnormality is present) and residual risks (the likelihood of a cytogenetic abnormality, in view of normal interphase FISH results) were calculated for the four major clinical indications for prenatal diagnosis (advanced maternal age, abnormal maternal serum screen indicating increased risk for trisomy 18 or trisomy 21, abnormal maternal serum screen indicating increased risk for neural tube defects and ultrasound abnormality). Differences in detection rates were observed to depend on clinical indication and presence or absence of ultrasound abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the clinical indication. The detection rates of abnormalities significant to the pregnancy being evaluated (i.e. abnormalities excluding familial balanced rearrangements and familial markers) were between 28.6 and 86.4%. The presence of ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, indicating increased risk for trisomy 18 or trisomy 21. With regard to residual risk, the risk for a clinically significant abnormality decreased from 0.9–10.1%, prior to the interphase FISH assay, to a residual risk of 0.6–1.5% following a normal interphase FISH result in the 4 groups studied. Providing patients with detection rates and residual risks, most relevant to their situation (clinical indication and presence or absence of ultrasound abnormality) during counseling, could help them better understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation. Copyright © 2003 John Wiley & Sons, Ltd.     

Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

The main difficulty in developing a molecular diagnosis of spinal muscular atrophy (SMA) resides in the specific genomic structure of the locus. Indeed, two highly homologous survival motor neurone genes, SMN1 and SMN2, are present at the locus. The detection of the homozygous deletion of exons 7 and 8 of the SMN1 gene, which is present in 90 to 98% of the patients, is based on methods highlighting 1 of the 8 nucleotidic mismatches existing between these 2 genes. In order to offer preimplantation genetic diagnosis (PGD) for SMA, we developed a new allele-specific amplification method. The main disadvantage of our previously described strategy resided in the possibility of diagnosing, in case of amplification failure, an unaffected embryo as affected. We present here a new PGD-SMA method. We established the conditions for three different duplex PCRs, allowing the specific detection of the SMN1 gene and one polymorphic marker, either D5S629, D5S1977, or D5S641. Of the 60 to 90 single cells tested, the PCR efficiency varied from 98 to 100% with a complete genotype obtained in a range between 81 and 87% with a global allele drop-out rate of 9%. Such a test was used to perform 1 PGD cycle for which 7 embryos could be analysed. All the embryos were fully diagnosed, six as unaffected and one as affected. Four embryos were transferred, but no pregnancy ensued. Copyright © 2003 John Wiley & Sons, Ltd.