Comparison of chorionic villus sampling and amniocentesis: Current status of prenatal diagnosis in Japan

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91·5 per cent) were diagnosed by amniocentesis, and 235 (8·5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.     

Accuracy of amniotic fluid testing before 21 weeks' gestation in prenatal diagnosis of congenital cytomegalovirus infection

Cytomegalovirus (CMV) is the most common cause of intrauterine infection. Recent publications show amniocentesis to have an 81–100 per cent sensitivity in antenatal diagnosis after 21 weeks' gestation. Testing before 21 weeks' gestation is less well documented. We performed 36 amniocenteses between 14 and 20 weeks' gestation. The sensitivity was 45 per cent and the specificity 100 per cent. Implications and possible causes of this low sensitivity are discussed.     

Risk of amniocentesis and laboratory findings in a series of 1500 prenatal diagnoses

The experiences with 1500 midtrimester prenatal diagnoses are reported. Abnormal findings of amniotic fluid investigations led to 43 therapeutic abortions. In ± 30 percent of the chromosome anomalies diagnosed, the significance of the effect on fetal development was inconclusive. The outcomes of all pregnancies except one are known. Fetal loss and perinatal mortality involved 69 cases, 23 (33 percent) of which occurred within three weeks after amniocentesis. In these 23 cases there appeared to be a relationship between the degree of experience of the gynaecologist and fetal loss: 3·7 percent when this experience was limited to a maximum of 10 punctures diminishing to 0·3 percent with an experience of more than 50 punctures. It is concluded that the risk of an abortion due to amniocentesis decreases as the gynaecologist becomes more experienced with the puncture technique.     

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis

We present six cases of 47,+i(5p)/46 mosaicism diagnosed at chorionic villus sampling (CVS), this being the first prospective series to be reported. The clinical indication in each was advanced maternal age. Further prenatal studies in four (amniocentesis, plus fetal blood sampling in one) did not show the isochromosome. In one case, subsequent amniocentesis showed 1/48 in situ colonies with the isochromosome, but fetal blood was karyotypically normal. These five pregnancies resulted in phenotypically normal livebirths; further normal follow-up reports (from age 4 months through 4 years) are noted in four of these. Analysis of placental tissue in one case confirmed the presence of the i(5p) mosaicism. In the remaining case, in which 100% of CVS cultured cells had the i(5p), the pregnancy was terminated. Fetal skin fibroblasts did not show the i(5p). Thus, in none of these six cases was true fetal mosaicism detected, nor an abnormal phenotype noted. We suggest that a 47,+i(5p)/46 karyotype, detected at CVS, may frequently reflect confined placental mosaicism. In addition, we report a case of the primary diagnosis of 47,+i(5p)/46 mosaicism at amniocentesis. The infant appeared normal at birth, but a brain malformation was subsequently identified. Copyright © 2002 John Wiley & Sons, Ltd.     

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08–1.15) and the 24–28 weeks premature delivery rate was 0.40% (95% CI=0.39–0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41–0.43 and 0.24% with 95% CI 0.23–0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study. Copyright © 2002 John Wiley & Sons, Ltd.     

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

美国城市固体废物回收利用研究

介绍了美国在如何通过源头消减、再循环利用、堆肥等措施提高城市固体废物回收利用率,采取城市固体废弃物填埋、废弃物能量回收等方面的众多举措以减少废物的最终处置量.并阐述了在提高城市固体废物收集效率、降低日常运营成本等方面所做出的探索努力,促使美国城市固体废物的回收利用走上了良性循环的发展道路,对中国城市固体废物的日常管理及发展方向具有一定的参考借鉴作用.     

Clostridium welchii infection following amniocentesis: a case report and review of the literature

We report a case of severe Clostridium welchii infection following amniocentesis with septicaemia, haemolysis, DIC, pulmonary oedema and renal failure. Full recovery occurred following aggressive conservative management using antibiotics, endometrial curettage and intensive monitoring. The patient retained her uterus and had a successful pregnancy two years later although caesarean section for uterine rupture was required. Conservative management with conservation of the uterus and ovaries may be a safe and effective option in the management of severe Clostridium infections, using antibiotics, endometrial curettage and multidisciplinary team input. Copyright © 2002 John Wiley & Sons, Ltd.     

美国固定压燃式发动机排气污染物排放法规研究

美国是世界上最先对固定式发动机污染物排放进行专门控制的国家,其固定式发动机排放法规基于最佳示范技术而制定。对于固定压燃式发动机,其排放法规与非道路移动机械用和船用压燃式发动机排放法规充分协调,该法规对“发动机”和“设施”均提出排气污染物排放控制要求,同时,对所用的燃油也进行了规定。在研究排放法规的基础上,分析了美国固定式发动机排放控制的特点,提出了我国制定固定式发动机排放标准的建议。     

美国的土壤污染防治体系分析与思考

追溯美国上世纪70年代发生的第一起由土壤二噁英(Dioxine)类物质导致的"腊夫运河污染事故"及1980年颁布"超级基金法"的成因.在此基础上美国构建了一套在法律、管理制度以及技术规范方面比较完善的土壤污染防治体系.论述美国政府处理土壤污染的政策法规以及相关体系的目的在于为我国治理土壤污染问题提供参考和借鉴.