Detection of fetal cells in transcervical samples and prenatal diagnosis of chromosomal abnormalities

Transcervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y-derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21-derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.     

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent).     

Non-mosaic trisomy 22: a report of 2 cases

Non-mosaic trisomy 22 is a common cause of first trimester miscarriage and has a livebirth incidence of 1 in 30 000–50 000. Consequently there is a paucity of information for counselling parents. Detection in the second trimester is rare. It is commonly associated with severe growth retardation and multiple structural abnormalities. Oligohydramnios is frequently seen and can make detection of other abnormalities difficult. The outlook is uniformly poor and survival beyond the first trimester may present management dilemmas. A thorough fetal assessment including high-resolution cytogenetics with or without FISH is required for counselling. Careful plans for intrapartum and neonatal management may be necessary. The recurrence risk is thought to be low but information is very limited as there have been no reported cases of recurrence. We present two case of non-mosaic trisomy 22 including the first to be diagnosed subsequent to investigation for a high serum screening Down's risk. Copyright © 2006 John Wiley & Sons, Ltd.     

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。     

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.     

Solubility of anthracene in complex solvent systems

A very extensive and effective research in the fields of classical and molecular cytogenetics of cancer cells, during the past 10 years, has produced a rather concrete picture of the events and mechanisms rendering a normal cell a malignant one: Mutational changes in the control of so‐called cellular oncogenes play a fundamental role in cell transformation and tumor progression. These oncogenes are highly conservative and, therefore, important genes normally coding for a series of specific proteins particularly involved in growth control and differentiation processes.

The most important alterations of these genes are: (1) Point mutations (e.g. base transitions) in essential base pairs of the respective proto‐oncogenes causing an uncontrolled expression of the latter, (2) translocations of specific chromosomal segments resulting in transfer of a proto‐oncogene from its normal (controlled) location into the area of highly active genes and by that in its activation, (3) amplification of DNA sequences including proto‐oncogenes which also can cause their over‐expression, (4) insertion of retroviral oncogenes into the DNA, (5) point mutations or deletions in “control genes” rendering the respective gene mutation homozygous or hemizygous.

All these events are mutations in the strict sense the mutageneticist applies to the endpoints of his experimental studies. Above all, the fundamental importance of translocations and point mutations in the transformation process has clearly been evidenced by these data. Therefore, the design of experiments in mutagenicity testing should preferentially consider these types of mutations. Any mutagen, e.g. certain heavy metals or their compounds, inducing those types of mutations, must be considered suspicious not only concerning its mutagenicity in germ cells but also in somatic cells, and, by that, its carcinogenicity.