The effect of the introduction of prenatal diagnosis on the reproductive history of women at increased risk from neural tube defects

The reproductive history of 45 couples at increased risk for neural tube defect (NTD) who came for genetic counselling in 1970 and 1971 were compared with a similar number counselled in 1975 and 1976, when prenatal diagnostic tests were freely offered. They were subsequently interviewed in their homes and had their reproductive history recorded to the end of 1973 and 1978 respectively. Nearly all had a previous child with an NTD and none of the women were pregnant at the time of counselling. The effect of prenatal diagnosis was to speed somewhat the decision about further pregnancies, but the number of couples deciding on no further children and on having further pregnancies were almost identical in the two groups. The average number of pregnancies was 2·8 per family, with only 1·2 surviving children. The pregnancy outcomes are discussed as are the reasons for not attempting further pregnancies in both groups, which included very high risk of recurrence, a surviving spina bifida child, inability to accept the tests or its implications. Ninety per cent of the second group had tests. Their reactions to the tests were favourable but all complained of the waiting time between amniocentesis and obtaining the results. They all would have tests again in any future pregnancy. The reason for women not having prenatal diagnostic tests included inability to accept termination. It is concluded that couples in South Wales decide either to have no more children or to have further pregnancies regardless of tests. but tests speed a decision and enable the women to enjoy the pregnancy after obtaining the results, and that an NTD greatly reduces the number of children per family. A termination for an NTD is much more acceptable to most than an NTD at term. The reasons for this are discussed.     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.     

A survey of diagnostic amniocenteses in Oxford from 1974–1981

A survey was conducted of the results of mid-trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow-up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha-fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha-fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false-positive and 132 true-positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false-positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.     

自然灾害社会脆弱性评估研究——以上海市为例

基于投影寻踪聚类模型(PPC),结合基于实数编码的加速遗传算法(RAGA),对上海市进行了自然灾害社会脆弱性评估的尝试。结果表明:①灾害社会脆弱性最高的为崇明县,其次为宝山区和金山区;②灾害社会脆弱性最低的是黄埔区,其次是徐汇区和静安区;③总体而言,灾害脆弱性较低的地区集中于上海城市中心区,而城市边缘区的社会脆弱性一般较高。     

Funipuncture for fetocide in late termination of pregnancy

The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 µg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated. Copyright © 2002 John Wiley & Sons, Ltd.     

基于遗传算法的前馈神经网络火灾探测

分析了前馈神经网络火灾探测的基本原理;针对ＢＰ算法的缺陷,提出用遗传算法（ＧＡ）和ＢＰ相结合的一种方法,即：ＢＰ－ＧＡ算法;并把ＢＰ－ＧＡ算法用于火灾探测的模拟,结果表明：前馈神经网络是处理火灾信号的良好方法,ＢＰ－ＧＡ算法提高了网络的收剑性。     

石窟文物病害成因分析及其对策研究

本文在概述石窟寺主要病害的基础上，结合典型灾例，从气象气候因素、地震活动、水文特征、环境工程地质条件、石窟寺结构和龛内文物自身的特殊性以及人类社会行为因素等６个方面详细分析了石窟文物病害形成的内部作用因素和外部环境条件，强调了综合减灾的重要性，并提出了相应的减灾对策。本文旨在为石窟寺的科学保护和文物修复工作提供理论基础和实践依据     

An evaluation of a shared experience group for women and their support persons following prenatal diagnosis and termination for a fetal abnormality

Objectives Support after fetal diagnosis of abnormality (SAFDA), is a facilitated shared experience group for women and their partners or support person, in Victoria, Australia, who have had a pregnancy termination for a fetal abnormality. The objective of this study was to evaluate the SAFDA-facilitated group. Methods A questionnaire-based study was undertaken between 2001 and 2005 to evaluate SAFDA. A deidentified self-completed questionnaire was given to participants at the end of each group and included questions relating to the referring professional, participants' prior expectations of the group, helpfulness of participation, preferred group format, length, and venue. In addition, there was also opportunity for participants to make general comments on their experiences of participating in SAFDA. Results A total of 85 participants (100% response) completed the questionnaire. Seventy-one participants (84%) considered it ‘very helpful’ to participate in the group. Seventy-eight participants (92%) considered that a shared-experience group was the most beneficial format. Comments written by participants affirmed that the present format of SAFDA was a highly valued opportunity to listen to and share experiences in a confidential small group. Conclusion SAFDA is a beneficial forum for women and their partners or support person to share their experiences after having had a pregnancy termination for a fetal abnormality. Further, SAFDA provides information and insights for health professionals who are considering how best to support women. Copyright © 2007 John Wiley & Sons, Ltd.     

Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk cf family

A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.     

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.