Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: the Portuguese experience

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for couples at risk of transmitting genetic disorders to their offspring. We present a fluorescence in situ hybridization (FISH) analysis of embryos obtained after seven PGD cycles in six couples with Robertsonian translocations and male factor infertility: 4 der(13;14), 1 der(14;21) and 1 der(15;21). Of 74 metaphase II (MII) injected oocytes, 61 (82.4%) fertilized normally and cleaved. Of these, 37/61 (60.7%) embryos were of high morphological quality with ≥6 blastomeres. After biopsy of 44 embryos at day 3 of development, seven degenerated, seven arrested in development and 30/44 (68.2%) evolved, of which 25/30 (83.3%) reached the morula/blastocyst stage. Analysis of biopsied blastomeres showed 23/44 (52.3%) of normal/balanced embryos, of which 15 (11 at the morula/blastocyst stage) were transferred in six cycles. One term pregnancy was achieved, which ended by cesarean section at 37 weeks of gestation, giving birth to two healthy newborn. Analysis of 49 embryos (excluding 12 inconclusive cases) showed a predominance of alternate segregation (38/49, 77.6%) over adjacent segregation (7/49, 14.3%), with one (2%) being a polyploid mosaic and three (6.1%) chaotic. Copyright © 2002 John Wiley & Sons, Ltd.     

基于人的认知可靠性模型(HCR)的接车进路办理诊断时间的研究

接发列车作业事故在铁路运输事故中占有相当大的比重。为减少接车作业事故的发生,合理制定车站接车进路办理时的诊断时间是保证接车作业安全的关键。针对车站采用写实法查定时具有较大随意性的问题,提出采用人的认知可靠性(HCR)模型,根据人因失误概率计算接车作业诊断时间的方法,并在自动闭塞区段通过模拟机实验进行了验证。结果表明,HCR模型确定的诊断时间与人因失误之间的关系与写实法的测定数据具有良好的符合性;作业人员的训练水平对诊断时间有较大的影响;利用该模型,根据作业人员的训练水平与可接受的人因失误概率,可以确定接车进路办理的最佳诊断时间,或对写实法测定的诊断时间进行订正。     

井架背车液压系统故障诊断与处理

介绍了井架背车液压系统常见故障现场快速诊断方法,列举了常见故障处理实例及故障诊断效果。     

IWRM视角下污水治理体系问题系统诊断与对策研究——以浙江省为例

基于集成水资源管理理念框架,较系统地构建了污水治理体系问题诊断指标体系并明确了诊断标准.实证研究表明,浙江省污水治理体系仍存在政策不协调,投资结构不合理,体制横向不协调、纵向不到位、职责分散,民主参与决策与监督机制不健全,排污行为监测监管不到位,经济激励不够、行业自律不足等问题.建议浙江省应进一步协调区域发展政策,优化污水治理城乡投融资结构,完善机构设置,优化部门协调,加强政府监测监管等,以提高污水治理绩效.     

Assessment and management of fetal agenesis of the corpus callosum

Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis until now has been so uncertain. We have reviewed the current world English literature to provide the best probabilistic information for prospective parents. In total, there are 70 cases where the diagnosis was made prenatally. The diagnosis of apparently isolated agenesis of the corpus callosum (in the absence of other sonographically detectable anomalies) appears to carry an excellent prognosis, with an 85 per cent chance of a normal developmental outcome and a 15 per cent risk of handicap. Fetal karyotyping is recommended as there is a 1 in 10 risk of aneuploidy. If other anomalies are detected prenatally, the outcome is very poor. Termination of pregnancy is advised in these circumstances.     

Complications of cordocentesis in high-risk pregnancies: Effects on fetal loss or preterm delivery

Between 1990 and 1993, 166 cases underwent cordocentesis and were followed for at least the following 4 weeks in the Prenatal Diagnosis and Therapy Centre of Vienna University. The indications for the procedure were structural malformations in 46·4 per cent of the cases, other high-risk diagnoses in 48·8 per cent, and maternal age over 35 years in only 4·8 per cent. We investigated retrospectively all cases of complications resulting in fetal loss or preterm labour. Abortion, intrauterine fetal death, chorioamnionitis, and preterm delivery occurred in 0·6, 5·4, 0·6 and 9·0 per cent of these cases, respectively, adding up to a total of 26 cases (15·7 per cent). Although this rate looks relatively high, 20 of the 26 cases had already displayed signs implying a complicated prognosis. Neither maternal age, gestational age, number of attempts, nor placental location correlated with fetal loss or preterm delivery. Significantly higher rates of fetal loss or preterm delivery were observed when cordocentesis was performed in cases diagnosed as duodenal/intestinal stenosis or hydrops–ascites–hydrothroax/hygroma colli (P=0·0488 and P=0·0005). The frequency of complications did not decrease as the experience of the operators increased.     

Fetal cystic hygromata: Insights gained from fetal blood sampling

Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth-retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period.