The first trimester ‘combined test’ for the detection of Down syndrome pregnancies in 4939 unselected pregnancies

The high detection rate (DR) for Down syndrome (DS) pregnancies which can be achieved by measuring fetal nuchal translucency (NT) early in pregnancy can be improved by combining it with placental hormones [pregnancy-associated plasma protein A (PAPP-A) and free β-human chorionic gonadotrophin (fβ-hCG)] and maternal age (‘combined test’). In this study we wanted to assess the DR using the ‘combined test’ in an unselected population of self-referred pregnant women at a false-positive rate (FPR) of about 5%. NT, PAPP-A, fβ-hCG and maternal age were measured in all women with singleton pregnancies who booked for delivery in our hospital from 1 December 1997 to 31 April 2000 and who were between 10 and 13 completed weeks of gestation [crown–rump length (CRL) 35–70 mm]. The specific DS risk was calculated using the computer program Alpha Version 5aa (Logical Medical Systems, London, UK). A total of 4939 women were tested. Out of 14 DS pregnancies that occurred during this period of time, 12 were detected with the test. A total of 246 women had a false-positive test result in a non-DS pregnancy (FPR 5.0%). This makes the ‘combined test’ by far the best test for the detection of DS pregnancies in a low-risk population. The constant increase in maternal age at the time of delivery can also lead to an improved DR if a simple age-dependant protocol for DS detection is used, but only at the price of a much higher number of amniocenteses and subsequent abortions. The DR for DS can be increased much more markedly using the ‘combined test’ with a FPR that still remains at the level as it was in the early 1970s. Copyright © 2002 John Wiley & Sons, Ltd.     

高加速应力试验的优点及其应用

阐述了高加速应力试验的本质是通过施加远超过产品设计规范规定的各种应力。快速地将产品内部的薄弱环节和缺陷激发出来,为改进设计和剔除早期故障提供信息。高加速应力试验的优点是可以得到高可靠的产品,且大大缩短产品研制进度和降低成本。列举了国外各公司在电子、机电、机械等设备上成功应用取得的效果,最后指出了影响这一技术推广应用的各种错误观念和认识。     

Ultrasonography in pregnancy and fetal abnormalities: Screening or diagnostic test? IPIMC 1986–1990 register data

The aim of the present study was to assess the sensitivity of ultrasound diagnosis used as a screening test in detecting major congenital anomalies in the prenatal period in a large nation-based multicentre setting. Data from the IPIMC register were collected in the period 1986–1990. One hundred and thirty-five hospitals, located in 17 out of the 20 regions in Italy, participated in the register. Study cases were 3479 infants with major congenital anomalies diagnosed at birth or in the first week of life. Subjects with chromosomal anomalies or multiple defects were excluded. The sensitivity of ultrasound prenatal diagnosis was 49.5 per cent for central nervous system anomalies, 3.8 per cent for congenital heart diseases, 17.1 per cent for gastrointestinal tract defects, 46.6 per cent for abdominal wall defects, 74.8 per cent for urinary tract anomalies, and 22.9 per cent for skeletal abnormalities. The detection rate for diaphragmatic hernia was 24.2 per cent. Overall, only 18 per cent of the defects diagnosed in utero were detected before 24 weeks' gestation. The sensitivity of prenatal diagnosis was 30.1 and 19.0 per cent in the northern, central, and southern regions, respectively. In light of its low sensitivity, ultrasonography as a screening test in the general population should be abandoned, although some improvement in its performance should be expected following adequate training of the ultrasound staff and the use of good technical equipment.     

Cystic fibrosis: selecting the prenatal screening strategy of choice

Cystic fibrosis is a serious disorder. Research into the treatment of affected individuals is in progress, but a cure is not expected in the near future. In this review, we demonstrate that prenatal screening for cystic fibrosis meets the requirements for a worthwhile screening programme. We explain the reasons that have led us to conclude that one approach (‘couple screening’) is the method of choice. The couple-based approach calls for reporting results to the couple as a unit. Only if both parents are found to be carriers is the result designated screen-positive and an amniocentesis or chorionic villus sampling offered. This offers a substantial reduction in the proportion of women with unaffected pregnancies with positive results (the false-positive rate) compared with other methods without reducing the detection of affected pregnancies. It also avoids creating a screen-positive group for which no definitive diagnosis is available. This is a problem with other screening methods. The couple method can achieve a 72% detection rate for a 0.1% false-positive rate. The screening method is simple, non-invasive, reliable, safe and reasonably cost effective. Existing programmes have shown that screening using this method is acceptable to health care professionals and patients. Setting up a national prenatal screening programme for cystic fibrosis is timely and should be implemented using the couple screening method. Copyright © 2003 John Wiley & Sons, Ltd.     

Variation in uptake of serum screening: the role of service delivery

The present study aimed to determine the extent to which variation in the uptake of serum screening for Down syndrome reflects variation in the way the test is offered. A higher uptake of serum screening was seen at hospitals that offered the blood test as part of a routine visit than at those where screening required a separate visit. The type of screening test offered and whether a reminder was sent were not associated with uptake. Given the consensus that undergoing screening should be the result of an informed choice, further research is needed to determine which methods of offering serum screening facilitate and which impede informed choice. Copyright © 2002 John Wiley & Sons, Ltd.     

我国土壤受试植物筛选与毒性预测

生态毒性数据缺乏是我国土壤基准与生态风险评估研究中一直存在的问题,开展本土受试植物的筛选可提供更多的生态毒理试验选材,从而获得不同物种的生态毒性数据.鉴于植物对土壤污染物的敏感性,从被子植物中依据分布范围、代表性和易于获得性等原则,对我国潜在的受试植物进行筛选,结果发现,13科53种被子植物分布广泛且易于获取,可作为本土受试植物;结合生态毒性数据的搜集与分析,其中12种受试植物的生态毒性数据相对丰富,并对部分典型污染物表现高敏感.此外在受试植物生态毒性预测模型研究方面,对12种受试植物两两进行建模预测,共得到132个物种种间关系估算模型(Interspecies Correlation Estimation,ICE),其中88个为显著性模型(F检验P<0.05);此处,回归分析了已构建ICE模型的评价参数,得出预测效果较好的ICE模型应满足交叉验证成功率≥ 80.00%、MSE ≤ 0.62、R² ≥ 0.76和分类学距离≤ 4的标准.最终筛选出25个符合上述标准的ICE模型,涉及禾本科-禾本科、十字花科-十字花科的相互预测,其中当燕麦Avena sativa、芜青Brassica rapa、普通小麦Triticum aestivum、玉蜀黍Zea mays和黑麦草Lolium perenne等作为替代物种时,预测物种的实际生态毒性值与预测值较为接近.受试植物的筛选与生态毒性预测模型的建立有助于生态毒性数据的产生,并为土壤污染管理和生态风险评估提供科学依据.     

Attitudes to prenatal screening,diagnosis and research among pregnant women who accept or decline an alpha-fetoprotein test

The aim of the study was to describe the opinion of pregnant women who had accepted or declined an alpha-fetoprotein (AFP) test, not only on AFP screening in general, but also on whether every pregnant woman should be offered amniocentesis (AC)/chorionic villus sampling (CVS) and an ultrasound scan for fetal malformations. An additional aim was to describe pregnant women's attitudes concerning continued research in the prenatal field. The study was performed as a questionnaire study in two regions over a 1-year period from 1 October 1988 to 30 September 1989. Results are based on answers from 3331 women who had taken an AFP test and 336 women who had declined the offer of a test. A total of 79 per cent of the women thought that an AFP test, 70 per cent that an ultrasound scan for fetal malformations, and 26 per cent that AC or CVS should be offered to all pregnant women. Fifty-nine per cent of the women were positive towards continued research in the prenatal field. Women who had had an AFP test were generally much more positive towards screening and research than women who had declined, who were generally against. Women who had left school without a high school degree were on average more positive towards the screening issues than women who had this degree. In conclusion, the results obtained in this study strongly suggest that women's attitudes are very dependent on how the prenatal screening programme is already organized in their local area.