A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium

Background

The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries.

Methods

A questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination.

Results

Differences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001).

Conclusion

Differences in women's decision-making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country-specific societal and cultural contexts.     

Natural selection in the “RNA-Like World”

Graduate student from Instituto de Biofisica Carlos Chagas Filho, UFRJ, Rio de Janeiro, Brazil.     

高效简易湿法脱硫技术的试验研究和应用

介绍了三相流化床湿法烟气脱硫技术的热态试验结果及其 1 2 5MW机组全尺寸的工业运行结果。研究分析了一些因素对脱硫效率、除尘效率、系统阻力等参数的影响变化规律。试验与运行结果表明 :其脱硫效率可以达到 85 % ,除尘效率达 98%以上 ,系统阻力在引风机的出力范围内 ,出口烟气不带水。整个系统运行可靠 ,具备了工业应用的条件     

湖泊和水库中藻类去除方法的研究进展

由于富营养化的影响，在我省少部分湖泊和水库中多次发生因藻类的强烈光合作用而产生的高pH值污染和藻类毒素对饮用水的污染等现象。该文综合了除藻的各种方式以及对环境的污染和对人体健康的影响等多种因素，认为以生物除藻和物理除藻两种方法比较适合我省的实际情况。     

电子束烟气处理方法简介

电子束法是一种能够同时脱硫、脱硝的烟气处理方法，具有脱硫、脱硝率高，副产品能够有效综合利用，不产生二次污染的特点，是一种先进的烟气处理技术。     

The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

Antenatal diagnosis of a de novo paracentric inversion of chromosome 11

A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.     

Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome

The concentration of human placental lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP-1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP-A could not be detected in any of the samples examined. Immunohisto-chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed.     

退耕还林还草对土地利用变化影响程度研究——以延安生态建设示范区为例

文章在分析延安生态建设示范区2000-2003年间各土地利用类型的数量变化和空间特征的基础上,引入退耕指数、退耕影响系数等指标研究退耕还林草对示范区土地利用结构变化的影响。结果显示,示范区已退耕坡耕地36.07%,平均每年退耕12.02%,全区的退耕影响系数高达4.76,该结果表明大规模的退耕还林草活动对区域土地利用变化的影响很大,它推动了土地利用结构的优化。分乡镇的研究显示,退耕对示范区各乡镇土地利用变化的影响存在一定的差异,除2个乡镇的退耕影响系数远远低于全区平均水平外,其他7个乡镇都高于全区平均水平。     

Eco-industrial park development in Rio de Janeiro,Brazil: a tool for sustainable development

The development of eco-industrial parks (EIPs) is an emerging concept that is being spread worldwide as a new industrial model that can reconcile the three dimensions of sustainability: social, economic and environmental. In Rio de Janeiro, Brazil, EIPs were launched through formal legislation as a means to foster sustainable development and to ameliorate the distress caused by unplanned urban and industrial development. The objective of this study is to present and analyze the development of EIPs in Rio de Janeiro, focusing on two of the initiatives launched. We argue that Rio de Janeiro has the potential for developing a sustainable industrial system through EIP implementation, but the continuity of EIPs will only be successful if there is convergence of interests among the actors involved.     

Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis

The frequency of de novo rearrangements at amniocentesis was determined in 76952 prenatal diagnoses from centres in the United States. Rates for balanced rearrangements are slightly greater than rates previously reported in the newborn, possibly because banding studies were not used in the latter. Rates for unbalanced rearrangements are considerably higher in the amniocentesis data not only because banding was used but also because a substantial loss of abnormal conceptions is to be expected between amniocentesis and birth. The higher frequency of cases with supernumerary markers at amniocentesis is unexplained. A review of 66 apparently balanced de novo rearrangements found at amniocentesis revealed evidence of abnormality in five; in four of these the abnormality was noted in the abortus. The number of cases observed is still too small to rule out a risk of abnormality no greater than the usual rate of abnormalities at birth. Abnormalities were detected in 6 of 10 cases with unbalanced de novo rearrangements. In 33 cases of non-familial supernumerary chromosomes 6 (18.2 per cent) showed abnormality. Non-satellited markers appeared to have a higher rate of abnormality than satellited markers but the difference is not statistically significant. Further studies and improved follow-up of de NOVO cases diagnosed at amniocentesis are required.     

ω-Feruloyloxyacids,a novel class of polar lipids in peat soil

This work has been supported by the Centre National de la Recherche Scientifique (C.N.R.S.) through the Action Thématique Programmée Matières Organiques des sols. We thank Dr. B. Guillet and Prof. B. Souchier, Centre de Pédologie Biologique du C.N.R.S., Nancy, for helpful discussions and advice in collecting the samples; we further thank E. Krempp and P. Wehrung for technical assistance in NMR and MS measurements.     

转向螺母锻模块液态模锻工艺分析及模具设计

此文叙述了转向螺母锻模块液态模锻工艺及特点,对该工艺及模具设计作了较详细的分析研究。     

Incorporating principles of sustainable development in research and education in western Mexico

The integration of university and society for social development and environmental management is founded in adequate interrelations of local stakeholders' problems with natural resource conservation problems. The university's main mission is actively integrating teaching, research and extension activities in order to provide professionals with knowledge and skills that contribute to social development of their community. The most effective means to achieve sustainable development is the integration of local knowledge and problems with scientific knowledge generated through research and development. This paper focuses on a case study of conservation of the Ayuquila River watershed as an example of successfully integrating universities in the regional society and presents the experience of researchers from the Manantlan Institute of Ecology and Conservation of Biodiversity of the University of Guadalajara, Mexico, and their interrelation with the Biosphere Reserve Sierra de Manantlan, an undergraduate education environmental-related program and the development of basic and applied research for strengthening social development and natural resource conservation of the Sierra de Manantlán region. The Ayuquila watershed case study is specifically presented, but we also discuss the associated problems. Relevant, long-term research, local involvement and social participation had been some of the key issues for the Manantlan Institute to contribute to the sustainable development of the Sierra de Manantlan region.     

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.     

乙烯废碱液综合治理技术探讨

分析了乙烯裂解气碱洗过程所排放废液的组成及性质，讨论了该废液的除油方法及综合治理和利用的途径。     

Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Duplication of chromosome 2 in association with ventriculomegaly — a case report

This is a case report of the prenatal diagnosis of a de novo interstitial duplication of chromosome 2 (46,XX,dup(2)(p13p21) de novo) with an associated phenotypic abnormality. This chromosomal duplication is rare, only one has previously been described prenatally. Postnatal reports of similar duplications in this region have described associated dysmorphic features and significant neurodevelopmental delay. In our case, the only ultrasound finding was moderately severe ventriculomegaly. At post-mortem, ventriculomegaly was confirmed and there was associated macrocephaly (head circumference above the 97th centile) with no dysmorphic features seen. Copyright © 2001 John Wiley & Sons, Ltd.     

An unusual tricentric X chromosome detected prenatally

We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long arm, and deletion of the distal long arm of the X. C-banding showed the presence of one active and two inactive centromeres and X-inactivation studies demonstrated the tricentric chromosome to be late replicating in all cells examined. The origin of this complex de novo rearrangement appears to have involved two separate breakage events, the first leading to the production of a dicentric X chromosome and the second generating the tricentric X.