Trisomy 16 fetus surviving into the second trimester

A 27-year-old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.     

Prenatal ultrasonic diagnosis of radial-ray aplasia and renal anomalies (acro-renal syndrome)

Prenatal ultrasonic diagnosis of a rare case of radial ray aplasia and crossed renal ectopy is described in an affected sibling of a family where the father and his son suffer from this rare syndrome. The prenatal diagnosis enabled early pregnancy termination.     

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.     

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.     

重金属对大麦(Hordeum vulgare)毒性的研究

研究了６种重金属（Ｈｇ２＋、Ｃｄ２＋、Ｐｂ２＋、Ｎｉ２＋、Ｃｕ２＋、Ｚｎ２＋）对大麦幼苗生长及根尖细胞遗传学毒害作用．结果表明，随着重金属浓度的增加和处理时间的延长，大麦种子的萌发率、根生长速率和有丝分裂指数下降．１×１０－２ｍｏｌ／Ｌ的Ｈｇ２＋、Ｃｄ２＋、Ｐｂ２＋处理２４ｈ后完全抑制了细胞分裂，Ｈｇ２＋、Ｃｄ２＋和Ｐｂ２＋诱发的染色体畸变率显著高于Ｎｉ２＋、Ｃｕ２＋和Ｚｎ２＋．用５×１０－３—５×１０－４ｍｏｌ／Ｌ的Ｈｇ２＋、Ｃｄ２＋、Ｐｂ２＋处理２４ｈ和Ｎｉ２＋处理４８ｈ后，核仁结构发生分解，形成许多核仁颗粒并进入细胞质中，而Ｃｕ２＋、Ｚｎ２＋对核仁结构没有影响．６种重金属对大麦的细胞遗传学毒性顺序为Ｈｇ２＋＞Ｃｄ２＋＞Ｐｂ２＋＞Ｎｉ２＋＞Ｃｕ２＋＞Ｚｎ２＋．文中还讨论了重金属对植物细胞的毒害机理．     

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).     

南黄海6.1级地震地磁异常的识别与研究

1996年11月9日南黄海发生MS6.1级地震.本文研究了上海佘山、武昌、安徽蒙城地磁台资料.上海佘山台的地磁总强度F、垂直分量Z,在南黄海MS6.1级地震前(1996年5～7月)存在明显地磁前兆异常.     

辽宁省大雾演变规律及对气候变暖的响应研究

利用辽宁省25个代表站1951—2005年的大雾资料,分析了辽宁省大雾雾日异常的空间分布特征、时间演变规律、雾与全球变暖及污染的关系.结果表明:受气候变暖的影响,辽宁省沿海地区大雾日数逐年递增,内陆地区大雾日数逐年递减;空气污染的减轻也是造成沈阳市雾日减少的原因之一;大雾的地域分布呈现“两高三低”的形势,沿海地区的大雾主要出现在4—7月,内陆地区的大雾主要出现在9月—次年1月;全省大雾雾日呈线性增加趋势,增加的趋势比较平稳,呈现以10年左右周期交替变化;在20世纪80年代前,沈阳大雾存在2种变化周期,分别为6～8和15年,80年代后仅存在15年的周期变化.      

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.