Prenatal diagnosis of inborn errors in peroxisomal β-oxidation

In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid β-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells.     

A 1 and 6 month follow-up of prenatal diagnosis patients who lost pregnancies

This paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi-structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss-related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss-related support from significant others showed the greatest levels of mood disturbance at the six-month assessment. Follow-up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow-up or referral of those experiencing the greatest distress.     

The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.     

建筑物地基安全性监测

建筑物地基安全性监测是及时掌握建筑在施工和最初使用阶段地基是否出现异常变形的重要方法。本文根据大量工程监测实践，分析了建筑物地基安全性异常的表现形式及产生原因，总结了建筑物安全性监测应注意的几个问题。