Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.     

Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures

Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10μM 5′;-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.     

Neural tube defects in trisomy 18

Central nervous system anomalies in trisomy 18 are usually confined to structural abnormalities of brain development. Despite the recognized association of neural tube defects and trisomy 18, primary (true) anencephaly is uncommon in the classical trisomy 18 phenotype. A case of anencephaly with trisomy 18, diagnosed prenatally, is presented with a review of the literature of this association.     

Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter)

Ultrasound examination of a 31-year-old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,—7,+der(7), t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post-mortem examination, which also revealed a semilobar holoprosencephaly.     

Early amniocentesis: Experience of 222 consecutive patients, 1987–1988

Early amniocentesis from 9 to 14 weeks' gestation provides a safe and accurate method of prenatal diagnosis of cytogenetic and biochemical disorders. There was a 100 per cent success rate in culturing the amniotic cells from 222 samples obtained between 9 and 14 weeks' gestation. Follow-up of the patients to delivery revealed an abortion rate of 1·4 per cent. Among the 207 live- and stillborn infants, only one had a congenital abnormality (bilateral talipes equino-varus) and no infant had respiratory distress syndrome or pneumonia. Eleven pregnancies were terminated following the detection of a chromosomal, biochemical, or congenital abnormality (5·0 per cent). However, before the procedure of early amniocentesis becomes routine clinical practice, it requires appraisal by a randomized clinical trial.     

Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks

Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collection tubes and cultured in Chang A and in supplemented MEM media using the in situ technique. Of the 1375 EA specimens received, 1356 were successfully cultured and yielded results. Abnormal results were found in 67 (4.9 per cent) of the cases. Nineteen specimens (1.4 per cent) failed to yield a result. The mean turn-around time (TAT) for all EA specimens was 8.28 days. In 1991, the average TAT for the EA specimens was 8.00 days compared with a TAT of 6.59 days for all specimens received over 14 weeks gestational age. The number of EA specimens received has increased from 1.5 per month in 1986 to 57 per month in 1991. In summary, our experience with EA specimens for cytogenetic analysis has demonstrated that the success rate is 98.6 per cent and that an increasing number of obstetricians are performing early amniocentesis as they seek to provide their patients with earlier results and an alternative to chorionic villus sampling.     

Prenatal diagnosis of ring chromosome 6

An amniocentesis was performed on a gravida 1, para 0 23-year-old female because of high maternal serum alpha-fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, - 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.     

Prenatal diagnosis of 46, XX/47, XXY mosaicism: A case report

A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.     

某型橡胶密封圈加速贮存试验设计与实践

目的针对某型橡胶密封圈开展加速贮存试验设计,并通过试验预测产品贮存寿命。方法通过分析橡胶密封圈在贮存使用环境下的失效机理,结合橡胶材料性能老化模型,在不改变失效机理、又不增加新的失效机理的前提下,以密封圈整件作为试验对象,用加大温度应力的试验方法加速产品失效过程,根据试验结果预计正常环境应力下的产品贮存寿命。结果采用温度应力作为加速贮存应力开展密封圈加速贮存试验方案设计和验证工作,评估得到其在贮存温度为20℃的环境中,贮存寿命可以达到16.97年,置信度大于0.95。结论以密封圈整件作为试验件,采用温度应力作为贮存敏感应力开展加速贮存试验,所评估得到的贮存寿命与产品已有的自然贮存寿命结果吻合得较好,试验状态更加真实,为橡胶密封圈更换周期提供参考依据,并为密封圈贮存寿命的定量评估提供了一种参考方法。     

A spatial approach to combatting wildlife crime

Poaching can have devastating impacts on animal and plant numbers, and in many countries has reached crisis levels, with illegal hunters employing increasingly sophisticated techniques. We used data from an 8‐year study in Savé Valley Conservancy, Zimbabwe, to show how geographic profiling—a mathematical technique originally developed in criminology and recently applied to animal foraging and epidemiology—can be adapted for use in investigations of wildlife crime. The data set contained information on over 10,000 incidents of illegal hunting and the deaths of 6,454 wild animals. We used a subset of data for which the illegal hunters’ identities were known. Our model identified the illegal hunters’ home villages based on the spatial locations of the hunting incidences (e.g., snares). Identification of the villages was improved by manipulating the probability surface inside the conservancy to reflect the fact that although the illegal hunters mostly live outside the conservancy, the majority of hunting occurs inside the conservancy (in criminology terms, commuter crime). These results combined with rigorous simulations showed for the first time how geographic profiling can be combined with GIS data and applied to situations with more complex spatial patterns, for example, where landscape heterogeneity means some parts of the study area are less likely to be used (e.g., aquatic areas for terrestrial animals) or where landscape permeability differs (e.g., forest bats tend not to fly over open areas). More broadly, these results show how geographic profiling can be used to target antipoaching interventions more effectively and more efficiently and to develop management strategies and conservation plans in a range of conservation scenarios.