Fetal choroid plexus cysts and trisomy 18: Assessment of risk based on ultrasound findings and maternal age

This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as well as data from published series were used. It was calculated that the prevalence of CPCs in the general population is approximately 1 per cent and at mid-gestation the incidence of CPCs in fetuses with trisomy 18 is approximately 50 per cent. In the 387 fetuses with CPCs, the incidence of trisomy 18 increased with maternal age and the likelihood ratio for trisomy 18 increased with the number of additional abnormalities, from 0·03 for those with isolated CPCs to 0·4 if there was one additional abnormality and 20·5 if there were two or more additional abnormalities. It was concluded that if the cysts are apparently isolated, the risk for trisomy 18 is only marginally increased and maternal age should be the main factor in deciding whether or not to offer fetal karyotyping. If one additional abnormality is found, the maternal age-related risk is increased, so that even for a 20-year-old the risk for trisomy 18 is at least as high as the risk for trisomy 21 in a 35-year-old. In this respect, it may be considered desirable to offer such patients the option of karyotyping.     

Prenatal obstruction of the ileum diagnosed by ultrasound

A case of low atresia of the ileum, diagnosed prenatally by real-time ultrasound scanning, is presented. The ultrasound examination showed progressive distension of intestinal loops, with strong peristaltic movements. The stomach was also distended, presenting as a large cystic area in the upper left abdomen. Real-time ultrasound technique is most advantageous in the diagnosis of fetal ileus. Prenatal diagnosis of fetal intestinal obstruction is of great importance, making early and safe treatment of the newborn possible.     

Neutrophil and monocyte β2-integrin expression in trisomic fetuses

Flow cytometry was used to measure neutrophil and monocyte β2-integrin expression in fetuses with trisomy 18 (n=7) and trisomy 21 (n=7) at 20–25 weeks' gestation. The values were compared with those of 112 chromosomally normal fetuses. There were no significant differences in β2-integrin expression between normal and aneuploid fetuses. These findings demonstrate that in trisomies 21 and 18, alteration in β2-integrin expression is unlikely to contribute to the pathogenesis of immunological deficiencies that have been observed in these aneuploidies both prenatally and postnatally.     

Examination of fetuses after induced abortion for fetal abnormality—a follow-up study

In the North-Western Region we offer a service to examine fetuses aborted after the diagnosis of fetal abnormalities. Many obstetricians use this service. We examined 343 mid-trimester fetuses over the last 5 years: 215 following an abnormal scan and 128 abnormal amniotic fluid or villus findings. When necessary, investigations were performed. A post-mortem examination was always required. As a result of fetal investigation, the scan diagnosis was modified or refined in 91 cases (42·3 per cent). In three of these cases, no fetal abnormality was found. For the fetuses diagnosed as abnormal by amniocentesis or chorionic villus biopsy, in one (0·8 per cent) the pre-termination diagnosis was not confirmed. The results were similar to those of our previous 5-year study except (a) diagnosis of neural tube defects was rarely based on amniocentesis in the present study (2/62, 3·2 per cent) compared with the previous one (32/103, 31 per cent), and (b) renal abnormalities were more often diagnosed in the pre-termination scan in the present study. We conclude that the examination of aborted mid-trimester fetuses by dysmorphologists continues to improve diagnosis, allowing more accurate genetic counselling for the families.     

Prenatal detection of trisomy 9 mosaicism

Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism—an inconsequential tissue culture artefact; or (2) true mosaicism—occurring in approximately 0.0 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, + 9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.     

SO2体内衍生物对人血红细胞的氧化损伤及其防护

为了探讨二氧化硫(SO2)对哺乳类细胞的毒性作用及其防护.以SO2体内衍生物-亚硫酸盐和亚硫酸氢盐(分子比为3∶1)及抗坏血酸(维生素C,Vc)单独或同时处理人血红细胞,并测定红细胞过氧化氢酶(CAT)、超氧化物歧化酶(SOD)活性及脂质过氧化(LPO)水平.结果表明,SO2体内衍生物单独处理后,CAT和SOD活性均显著甚至极显著降低,而LPO水平均极显著升高.Vc单独处理后,CAT及SOD活性均有所升高,但差异不显著;而LPO水平除Vc为0.05 mmol·L-1剂量组外,其余各组均极显著降低.0.1 mmol·L-1Vc和不同剂量SO2衍生物共同处理后,Vc使各组CAT、SOD活性均有升高,且Vc也降低了SO2衍生物引起的人血红细胞LPO水平.由此认为,SO2体内衍生物可以使人血红细胞中CAT和SOD的活性降低、LPO水平增高,Vc可起到一定防护作用.     

中国农村儿童血铅水平分析研究

通过检索相关文献,收集国内1998～2006年公开发表的关于农村儿童血铅研究的论文,从中选择相关的文献进行综合分析。被纳入研究的49篇文献分析结果表明,我国农村儿童血铅水平在43.48～532.0μg/L,平均为105.17μg/L,中毒率范围为2.2%～88.1%,平均中毒率为26.8%。在所报道的21个省、市中,有8个省、市儿童血铅平均水平超过100μg/L。血铅平均值及铅中毒率最高的是安徽、云南、山西,最低的是湖南、重庆、吉林。受环境等因素的影响,我国农村儿童血铅水平较高,血铅的防治工作刻不容缓。     

Reproductive Parameters of Adult Birds and Morphophysiological Characteristics of Chicks in the Pied Flycatcher (<Emphasis Type="Italic">Ficedula hypoleuca</Emphasis> Pall.) in Technogenically Polluted Habitats

Effects of toxic emissions (heavy metals and sulfur dioxide) on reproductive parameters of adult pied flycatchers (Ficedula hypoleuca Pall.) and morphophysiological characteristics of their progeny have been studied in the vicinity of the Middle Ural Copper-Smelting Plant. In polluted areas, the fecundity of adult birds is lower, mortality among the progeny is higher, and changes in the physiological parameters of birds are observed. The effects of toxic load are better manifested in nestlings than in adult birds. They include an increase in the liver index, the reduction of hemoglobin concentration, and an increase in the proportion of immature erythrocytes in the peripheral blood. The proportion of anemic birds also increases. The weakening of nestlings facilitates their infestation by the larvae of parasitic flies. Changes in the differential blood count of nestlings reflect the combined impact of toxic pollutants and parasites.     

Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy

A new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described. Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area. The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs. This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of β-thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications. The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.     

Current uses of the EPA lead model to assess health risk and action levels for soil

The EPA lead model predicts mean blood lead levels and risk of elevated blood lead levels in children based on lead uptake from multiple sources. In the latest model versions, environmental data from individual homes within a community can be used to predict the overall blood lead distribution and percent risk of exceeding a specific blood lead level (i.e. 10 g dl^–1). Recent criteria used by the EPA to evaluate this information include no more than 5% of houses with a greater than 5% lead risk, and a community weighted-average risk below 5%. Environmental (primarily soil) and blood lead data from a residential community near a smelter were used to illustrate recent uses of the model. Scheduled remediation in the community will remove soil for approximately 60% of the houses (i.e. those with lead levels > 1000 mg kg^–1). After remediation, the model results indicate a relatively low community risk (0.5–1.9%), although the percentage of houses with lead risks above 5% ranged from 3 to as high as 13%, depending on the variation in blood lead and assuming the model's 7 g dl^–1 increase in blood lead with each 1000 mg kg^–1 increase in soil lead level. A comparison of the limited blood lead data with soil lead levels below 1000 mg kg^–1, however, indicated no apparent relationship. Given these uncertainties, less invasive actions than additional soil removal (e.g. exposure intervention, monitoring conditions, and follow-up as necessary) may be appropriate under the new EPA guidance for lead in soil.