The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier

In order to evaluate the relation between chromosomal translocation and the outcome of pregnancy, 50 couples were examined. Subjects consisted of 35 couples that included a reciprocal translocation carrier; 13 included a Robertsonian translocation carrier and 2 included a carrier of a mosaic reciprocal translocation. The reasons for performing chromosomal examinations were mainly infertility and abnormality of neonates. The rates of miscarriages and neonatal abnormalities in prior pregnancies were significantly higher than the birth rate of morphologically normal newborns. The presence of a translocation is closely related to reproductive failure because of the chromosomal imbalance. However, prenatal chromosomal examination after the 15th gestational week in subsequent pregnancies revealed that almost half of the fetuses showed normal karyotypes and only 12.8 per cent of the fetuses showed a chromosomal imbalance. Many chromosomally imbalanced fetuses are spontaneously aborted before amniocentesis. The risk of chromosomal imbalance is relatively low in prenatal diagnosis, but partial trisomies of small rearrangements tend to be preserved.     

First-trimester maternal serum schwangerschafts protein 1 (SP1) in pregnancies associated with chromosomal anomalies

The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6–12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eight other anomalies, two of which were mosaics. The normal ranges and medians for gestation were defined from the 662 cases in which the karyotype was normal. The median SP1 (0·5 MOM) of the abnormal group was significantly lower than that of the normal group (10 MOM). This relationship was maintained for the DS pregnancies (0·4 MOM) and for anomalies other than trisomy 18 (0·43 MOM) but not trisomy 18 (1·1 MOM). It is possible that the use of SP1 as a screening test for chromosome anomalies in the first trimester could have a 43 per cent detection rate for a 5 per cent false-positive rate.     

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: Their characterization and delineation of defects in pregnancies at risk

During a follow-up study of 19 790 pregnancies at risk for a genetic disease, from 1968 to 1989, 1083 fetuses were found to have an anomaly during the second trimester, leading to 977 terminations of pregnancy. Neural tube defects (31.4 per cent), chromosomal disorders (27.1 per cent), and Mendelian or multifactorial diseases (10.6 per cent) were the main causes of fetal anomaly. More than half (52.9 per cent) of the fetal anomalies were detected by routine ultrasound examination. Forty-two per cent of cystic hygromas were secondary to a chromosomal defect. We stress the importance of a comprehensive fetal and newborn examination to ensure an accurate diagnosis so that subsequently accurate counselling can be provided.     

Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18

Cytogenetic analysis in three pregnancies revealed chromosomal mosaicism confined to chorionic villi. They were ascertained in the third trimester by intrauterine growth retardation (IUGR) in otherwise normal fetuses. In case of triple trisomy 6,21,22 and trisomy 16, it was obvious that these findings were most likely restricted to the placenta. These trisomies act as early lethal factors when they occur in the embryo itself. With trisomy 18, however, the interpretation of the cytogenetic finding remains ambiguous. The question arises as to whether an abnormal karyotype may be the cause of placenta insufficiency or is just coincidentally associated.     

The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987

Data on a total of 11 855 diagnostic chorionic villus samples obtained in the years 1986 and 1987 were compiled from a questionnaire filled in by 36 European cytogenetic centres. Mosaicism was reported in 141 cases. The cytogenetic findings were followed by induced abortion in 24 cases. Spontaneous abortion was observed in nine mosaic pregnancies, a rate not significantly different from that observed for CVS in total. Mosaicism was found in 1.2 per cent of analyses by direct analysis/short-term culture, in contrast to the 0.6 per cent found after long-term culture. Evidence for fetal non-mosaicism was found in 99 of the 141 cases. The finding of mosaicism in first-trimester CVS should always elicit further analyses, preferably after amniocentesis, to substantiate the suspected fetal chromosome aberration.     

Seven cases of trisomy 3 mosaicism in chorionic villi

This paper describes seven cases of confined chorionic mosaicism with trisomy 3. The chromosomally abnormal cell line in chorionic villi was revealed in three cases at diagnostic CVS and in four cases at the evacuation of the uterine cavity after a missed abortion had been diagnosed by ultrasound. In two of these cases, the abortion occurred after apparently normal development of the fetus during the second trimester of pregnancy. An evaluation of the effect of confined chorionic mosaicism with trisomy 3 on the viability of the conceptus has been attempted.     

飞机某模拟涂装试样加速腐蚀与自然暴露的对比研究

目的研究飞机某结构模拟试样加速腐蚀试验与自然暴露试验的相关性。方法选取飞机某结构模拟试样分别进行实验室加速腐蚀试验和海南西沙外场自然暴露试验,以宏/微观形貌、失光率、色差等级、腐蚀产物成分等作为评价指标,对试样表面涂层的腐蚀损伤情况进行长期观测和对比研究,对加速腐蚀2个周期和户外暴露2年的疲劳试样疲劳寿命和疲劳断口形貌进行对比分析。结果加速腐蚀试验2个周期和自然暴露试验2年试样的试验过程色差变化规律一致,色差变化等级均为2级,光泽度变化规律一致,加速腐蚀试验后为3级,户外自然暴露户外为4级、棚下为3级,在螺钉边缘均出现面漆剥落现象。7B04铝合金试样疲劳寿命断口的韧窝和孔洞的数量都没有发生明显的变化,在显著度为0.05时,两组疲劳寿命的t检验量为1.6971,疲劳寿命无显著差异。结论加速腐蚀试样表面涂层的腐蚀程度介于户外和棚下暴露试样之间,这一结果与加速环境谱的编制原则相一致,也进一步表明加速试验环境谱正确性。疲劳寿命无显著差异,表明加速腐蚀试验可以较好地模拟飞机实际工作环境对试样疲劳性能造成的影响。     

Effect of latex material on antioxidant enzymes,lipid peroxidation,DNA damage,and chromosomal aberration

Cell integrity is affected by oxidative stress when the production of active oxidants overwhelms antioxidant defense mechanisms. Latex, a natural polymer obtained from Hevea brasiliensis, is used in medical industry for manufacturing surgical gloves, urinary catheters, and dental dams. The aim of this study was to evaluate the effects of latex material on oxidative stress by in vivo and in vitro methods. In addition, the material was screened for its ability to induce any chromosomal aberrations (CAs) by in vitro method. In vivo studies were carried out with implanted latex material onto subcutaneous tissue of various batches of experimental Wistar rats. At the end of experimental period, animals were anesthetized, blood was collected for serum analysis, and sacrificed. Liver was excised for the determination of antioxidant enzymes and lipid peroxidation (LPO). Subcutaneous tissues were obtained for the extraction of genomic DNA from implanted animals and checked for the presence of 8-hydroxy-2-deoxyguanosine (8-OHdG), considered an indicator of DNA damage. Simultaneously, in vitro studies were carried out using fresh liver and subcutaneous tissue obtained from Swiss albino mice treated with physiological saline extract of latex material. For the estimation of both in vitro and in vivo oxidative stress, 10% liver homogenate was assessed for stress indicators like reduced glutathione, glutathione reductase, glutathione peroxidase, LPO and protein content. The results of both in vivo and in vitro studies indicated that the chemical leachents from the latex material did not significantly affect LPO and the levels of antioxidant enzymes. There was also no significant increase in 8-OHdG content due to the presence of implanted latex material. Finally, the results of in vitro CA test and G banding indicated that extracts of test material did not induce any chromosomal abnormalities.     

In vitro assessment of genotoxic and oxidative effects of zinc borate

Zinc borate is used as flame retardant for plastics and cellulose fibers, paper, rubber, and textiles. Despite its wide industrial use, there is limited information concerning its toxicity. The aim of the present study was to investigate the concentration dependence (0–280 mg L^?1) of its genotoxic activity on cultured human lymphocytes by using sister chromatid exchange and chromosomal aberration assays. Total antioxidant capacity and the extent of oxidative stress were also determined. Zinc borate was found to be non-genotoxic at all tested concentrations. It exhibited antioxidant activity at concentrations lower than 40 mg L^?1, and total oxidative stress levels were not changed at any applied concentration of zinc borate.     

邻苯二甲酸二丁酯对蚕豆胚根细胞微核形成的影响及毒理机制

研究常用增塑剂邻苯二甲酸二丁酯(di-n-butyl phthalate,DBP)对农作物生长的影响,为农用地膜及其残留物的环境安全性评估提供实验依据。以蚕豆为试材,DBP处理浓度为0(CK)、9 mmol·L-1、18 mmol·L-1、27 mmol·L-1和36 mmol·L-1,培养24 h、48 h和72 h后,观测根尖细胞染色体结构变化,测试胚根抗氧化酶活性。结果显示:DBP暴露的蚕豆胚根生长速率减缓;随着DBP暴露时间延长,根尖正在进行分裂的细胞被阻断在有丝分裂前期的比例增加,微核率升高,出现多种类型的染色体畸变;DBP暴露的胚根超氧化物歧化酶(superoxide dismutase,SOD)活性提高5.41%~29.68%,过氧化物酶(peroxidase,POD)活性随DBP浓度增加而递减,过氧化氢酶(catalase,CAT)活性显著降低14.00%~43.08%。结果表明,DBP对蚕豆胚根具有遗传毒性,且能够破坏纺锤丝的结构。