Peri- and paracentric inversions in chromosome 12: Prenatal diagnosis and family study

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1·9 per cent. The clinical implications of these findings are discussed.     

A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling

A paracentric inversion in the long arm of a number 7 chromosome was detected in an amniotic cell culture from a 41 year old woman, screened because of maternal age. The karyotype was 46, XX, inv(7) (q11q22). Her husband carried an identical inversion. The parents were advised that the pregnancy should continue and a healthy infant was born at term. Prenatal diagnosis and counselling for paracentric inversion heterozygotes are discussed in the light of published and unpublished cases.     

北京地区冬夏季持续性雾-霾发生的环境气象条件对比分析

在北京地区,除冬季供暖期外盛夏也是雾-霾天气的高发季节,与我国南方不同.使用微波辐射仪、风廓线和常规气象探测资料、NCEP再分析资料以及大气成分观测结果,通过对比分析揭示了冬、夏季持续6 d的2个雾-霾过程形成和维持机制的异同.冬季雾-霾过程出现在高空西北气流、低层多短波活动的背景下,其形成和维持的主要机制是边界层内始终有逆温层、地面弱风场、底层湿度逐渐增大.逆温层昼高夜低、湿度昼小夜大是影响PM2.5质量浓度和能见度日变化的重要环境因子.在雾-霾天气持续期间地面弱风场能够维持主要源于冷空气势力弱、常不能影响到地面.此外,入夜后地面迅速辐射降温、边界层上层有暖平流以及空气过山后下沉增温在逆温层的形成中起了关键作用.然而,对于夏季持续性雾-霾天气,气溶胶区域输送、环境大气保持对流性稳定、空气的高饱和度是其发生的重要条件.在副热带高压长时间控制下对流层低层盛行偏南风,北京的PM2.5质量浓度随着偏南风风速增大升高.对流层底层系统性偏南风与北京附近的山谷风共同构成了从北京以南气溶胶累积地向北输送的机制.夏季雾-霾过程低层没有逆温,但是北京上空一直维持超过200 J·kG-1的对流抑制能量,它同样限制了污染物的垂直扩散.夏季自由对流高度也存在昼夜变化,其对PM2.5浓度和能见度的作用与逆温层高度升降相同.因此,冬、夏个例分别代表了2种不同类型的持续性雾-霾过程,导致差异的根本原因在于大气环流型.     

Maternal urinary β-core fragment of hCG/creatinine ratios and fetal chromosomal abnormalities in the second trimester of pregnancy

Our aim was to evaluate the potential value of the ratio of the maternal urinary beta-core fragment of human chorionic gonadotropin (βC-hCG) to creatinine (Cr) in discriminating between normal pregnancies and pregnancies associated with fetal chromosomal abnormalities. We hypothesized that pregnancies with fetal chromosomal abnormalities had abnormal quantities of βC-hCG in the urine. The aims of the present study were to investigate retrospectively whether maternal urinary ratios of βC-hCG/Cr are abnormal in women carrying fetuses with chromosome aberrations and to determine normative median values and a reference range for βC-hCG/Cr between 14 and 19 weeks' gestation. Maternal urinary βC-hCG and Cr concentrations were measured in 150 healthy women from 14 to 19 weeks and compared with ten cases of fetal chromosomal abnormalities matched for gestational age. The preliminary cut-off points corresponded to 0·29 multiple of the normal median (MOM) and 2·83 MOM, which were equivalent to the tenth and 90th centiles of the normal range. Of ten cases of fetal chromosomal abnormalities, one out of one (100 per cent) case with trisomy 18 and three of four (75 per cent) cases of variant 9 chromosome had low βC-hCG/Cr (≤0·29 MOM). One of five (20 per cent) cases with Down syndrome had elevated βC-hCG/Cr (≤2·83 MOM). Urinary βC-hCG/Cr ratios obtained in the second trimester may be useful for improved detection efficiency of Down syndrome, trisomy 18, and inversion of chromosome 9. Second-trimester maternal urinary βC-hCG/Cr should be investigated further as a potential marker for fetal chromosome anomalies.     

基于相关系数优化法的河流突发污染源项识别

基于相关系数优化法,结合地表水环境特征和污染物水质过程特征,推导出一维河道中单点源瞬时排放的源项反演算法,得到了污染源排放特征与河流环境特征参数的反演公式.采用假想算例进行数值试验,综合分析了流速信息、污染物衰减、监测距离、监测数据误差及中间参数?T选取等因素对反演结果的影响,确定了该方法的适用条件和最优条件的寻找方式.间隔10min进行两次监测采样,若监测误差小于5%,反演结果的相关系数达到-0.97,污染源位置和排放量反演结果的相对误差均小于4%,综合相对误差在2%以内.并且方法具有监测布点简单高效,数据需求低,编程简单等优点,值得在环境应急管理中进行实际应用.     

海域水质模型参数动态反演方法研究初探

海域水质模型长周期数值模拟中,模型参数全时段统一赋值的方法忽略了参数随时间动态变化的物理特性,降低了模型的可靠性,增加了海域水质模型验证工作的难度.本文建立了将数据驱动模型和水质模型有机结合的参数动态反演的新方法:以水质模型多参数设计工况的数值模拟,构建海域内部观测点污染物浓度响应解集,并将解集划分为若干时段;应用基于人工神经网络的数据驱动模型归纳建立观测点每一时段内污染物浓度同多个模型参数之间的非线性关系;将实测资料带入关系中,进行模型参数随时间变化的动态反演.以渤海海域水质模型为例,采用“孪生”实验验证参数动态反演新方法的可行性,结果表明该方法是有效的,能够保证模拟周期内较高的数值精度,提高了模型的准确性.     

Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.     

广州地区灰霾过程和清洁过程的边界层特征对比分析

利用2014~2016年广州国家基本气象站的微波辐射计、风廓线雷达和地面观测数据,研究广州地区灰霾过程和清洁过程的边界层结构特征.结果表明：（1）灰霾过程中,270m高度以下风速随高度递减,270m高度以上的风速随高度递增,2000m以下的风速增率小于2000m以上的风速增率,盛行风向随高度的增加呈顺时针旋转,510m高度以下风速基本小于3.0m/s,其中08：00至20：00,390m高度以下风速小于2.0m/s;清洁过程中510~1590m和2790~3000m存在风速大于5.0m/s的高值中心,1830m高度以下,清洁过程各层的平均风速明显高于灰霾过程;（2）贴地逆温与能见度总体上呈负相关,与PM_2.5浓度呈正相关,相关系数分别为-0.367和0.455,而当贴地逆温和低空逆温同时存在时,其相关性更高,其相关系数分别为-0.5和0.601,说明多层逆温的存在更容易出现灰霾天气.灰霾过程中,低空逆温与能见度和PM_2.5的相关不明显,而清洁过程中,低空逆温的出现主要与冷空气南下有关,其与能见度呈正相关（0.217）,和PM_2.5浓度呈负相关（-0.64）,低空逆温不利于灰霾天气形成;（3）灰霾过程中,贴地逆温出现频率为60.68%,平均逆温强度为1.38℃/100m,平均逆温厚度为153.20m,明显高于清洁过程;清洁过程中,低空逆温的逆温强度、厚度和出现频率分别为0.27℃/100m、691.07m和64.61%,明显高于灰霾过程.（4）清洁过程的混合层高度明显高于灰霾过程,清洁过程的日均混合层高度（958.92m）是灰霾过程（398.03m）的2.4倍.     

Cytogenetic results from the U.S. collaborative study on CVS

Cytogenetic data are presented for 11 473 chorionic villus sampling (CVS) procedures from nine centres in the U.S. NICHD collaborative study. A successful cytogenetic diagnosis was obtained in 99.7 per cent of cases, with data obtained from the direct method only (26 per cent), culture method only (42 per cent), or a combination of both (32 per cent). A total of 1.1 per cent of patients had a second CVS or amniocentesis procedure for reasons related to the cytogenetic diagnostic procedure, including laboratory failures (27 cases), maternal cell contamination (4 cases), or mosaic or ambiguous cytogenetic results (98 cases). There were no diagnostic errors involving trisomies for chromosomes 21, 18, and 13. For sex chromosome aneuploidies, one patient terminated her pregnancy on the basis of non-mosaic 47,XXX in the direct method prior to the availability of results from cultured cells. Subsequent analysis of the CVS cultures and fetal tissues showed only normal female cells. Other false-positive predictions involving non-mosaic aneuploidies (n = 13) were observed in the direct or culture method, but these cases involved rare aneuploidies: four cases of tetraploidy, two cases of trisomy 7, and one case each of trisomies 3, 8, 11, 15, 16,20, and 22. This indicates that rare aneuploidies observed in the direct or culture method should be subjected to follow-up by amniocentesis. Two cases of unbalanced structural abnormalities detected in the direct method were not confirmed in cultured CVS or amniotic fluid. In addition, one structural rearrangement was misinterpreted as unbalanced from the direct method, leading to pregnancy termination prior to results from cultured cells showing a balanced, inherited translocation. False-negative results (n = 8) were observed only in the direct method, including one non-mosaic fetal abnormality (trisomy 18) detected by the culture method and seven cases of fetal mosaicism (all detected by the culture method). Mosaicism was observed in 0.8 per cent of all cases, while pseudomosaicism (including single trisomic cells) was observed in 1.6 per cent of cases. Mosaicism was observed with equal frequency in the direct and culture methods, but was confirmed as fetal mosaicism more often in cases from the culture method (24 per cent) than in cases from the direct method (10 per cent). The overall rate of maternal cell contamination was 1.8 per cent for the culture method, but there was only one case of incorrect sex prediction due to complete maternal cell contamination which resulted in the birth of a normal male. The rate of maternal cell contamination was significantly higher in samples obtained by the transcervical sampling method (2. 16 per cent) than in samples obtained by the transabdominal method (0.79 per cent). From these data, it is clear that the culture method has a higher degree of diagnostic accuracy than the direct method, which should not be used as the sole diagnostic technique. The direct method can be a useful adjunct to the culture method, in which maternal cell contamination can lead to incorrect sex prediction and potentially to false-negative diagnostic results.     

European collaborative study on prenatal diagnosis: Mosaicism,pseudomosaicism and single abnormal cells in amniotic fluid cell cultures

A report is given of the results of a European collaborative study on mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. The mean frequency of cases with mosaicism was 0.10 per cent, with pseudomosaicism 0.64 per cent and with single abnormal cells 2.83 per cent in a series of 44 170 amniotic fluid samples. There was no significant difference between the colony (in situ) and the flask method with regard to the frequency of mosaicism. Pseudomosaicism and single abnormal cells were more frequent in cases studied with the flask method probably due to other factors than the method of cultivation of the cells. The frequency of maternal cell contamination was 0.17 per cent and the frequency of wrong sex assignment was 0.11 per cent. A more correct estimation is obtained if these frequencies are doubled. There was a considerable variation between laboratories with regard to the frequencies given above. One reason for this variation is that there are no sharp limits between mosaicism, pseudomosaicism and single abnormal cells. Thus the material contained cases diagnosed as having pseudomosaicism which turned out to be mosaics at birth and to have an abnormal phenotype. These cases were very rare but pose a definite problem in prenatal cytogenetic diagnosis.     

Cystic Adenomatoid malformation of the lung: Prenatal diagnosis and outcome

During an 8-year period (1984–1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17–39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different types of CAM, associated malformations, and outcome. The lesions were macrocystic in 78 (59 per cent) and microcystic in 54 (41 per cent) of the cases. CAM was left-sided in 51 per cent, right-sided in 35 per cent, and bilateral in 14 per cent of the fetuses. In 15 (11 per cent) of the fetuses there were additional malformations and 57 (43 per cent) were hydropic. The pregnancy was electively terminated in 44 (33 per cent) of the cases, including all those with bilateral CAM. There were six (5 per cent) intrauterine deaths, five in association with hydrops, and one with growth retardation and heart defect. Of the 82 (62 per cent) infants that were liveborn, 21 (26 per cent) died in the neonatal period, 15 before and six after surgery. Of the 61 survivors, 16 (26 per cent) did not require surgery. In the 88 cases where the pregnancy was not terminated, survival was better if the CAM was macrocystic (74 per cent versus 58 per cent for microcystic), if there was no hydrops (92 per cent versus 21 per cent for hydrops), and if the amniotic fluid volume was normal or decreased (82 per cent versus 53 per cent for polyhydramnios).     

Feto-amniotic shunting—report of the experience of four european centres

Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were inserted in 34 fetuses. The indications were uni- or bilateral hydrothorax in nine cases, cystic adenomatoid malformation of the lung in four cases, infravesical stenosis in 13 cases, and fetal ascites in eight cases. In three cases (6 per cent), difficulties occurred when the drain was inserted. In 15 cases (29 per cent), the function of the drain was reduced by dislocation or occlusion. The mortality rate caused by shunting was as high as eight per cent (four cases). The application of an intrauterine shunt currently represents a rarely performed ultrasound-guided therapeutic intervention in the fetus. In all cases, the indication for shunting is to avoid compression of normal tissue by cystic structures. A high complication rate restricts the application of drainage to selected cases.     

Randomized trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis

A total of 800 patients were randomized at the 9th to 11th week of pregnancy either for transcervical chorionic villus sampling (CVS) on the day of trial entry or for amniocentesis (AC) at the 16th week. The indication for fetal karyotyping was maternal age in 94 per cent of the cases; the mean maternal age was 39.2 years. An adequate sample was obtained in 98.3 per cent of the cases in the CVS group and in all cases in the AC group. Retesting was indicated in 3.3 per cent of the CVS cases. An abnormal karyotype was found in 6.1 per cent of the CV samples and in 4.5 per cent of the amniotic fluid samples. There was one false-positive chromosome result in both groups. Twelve (3.1 per cent) miscarriages occurred by the 22nd week of pregnancy in the CVS group in pregnancies intended to continue. No difference was seen between the groups for total fetal loss rates. The number of surviving infants in the CVS group was 92.2 per cent and in the AC group 91.7 per cent (rate difference 0.5 per cent (95 per cent confidence interval − 3.3 to 4.3)). In our study, both the diagnostic accuracy and the risk of fetal loss were equal in the CVS and AC groups.     

Prenatal diagnosis of chromosome mosaicism

The frequency of mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders is reported, based on 3000 pregnancies studied in our laboratory. Diagnosis of true mosaicism was only made when an abnomality was detected in two or more independent cultures established from an amniotic fluid sample. On this basis, 0.37 per cent of all cases were diagnosed as true mosaics. 1.07 per cent of all cases had pseudomosaicism involving more than one cell from the same culture with an identical abnormality. 4.13 per cent of cases had a single abnormal cell with an extra chromosome, loss of a sex chromosome (or part of a sex chromosome), or translocation. Details of the outcome and follow-up of cases is given. Particularly problematical were cases where multiple cells from one culture contained an abnormality which could have been clinically significant. A crude estimate of the extent to which true mosaicism might currently be misinterpreted as pseudomosaicism or entirely missed has been made, based on data from the U.S. survey (Hsu and Perlis, in press). It was concluded that even when two, and if necessary a third culture is extensively analysed with an average of 24 cells per culture counted, at least 4.5 per cent of cases of true mosaicism may be completely missed and at least 7 per cent could be misdiagnosed as pseudomosaicism. There is an urgent need for improved laboratory techniques which allow growth of a greater number of cell colonies and therefore a more broadly based analysis. Detailed long term follow-up of prenatally diagnosed mosaics is also essential for assessing the clinical significance of the laboratory findings.     

Transabdominal chorionic villus sampling. Clinical experience of 1159 cases

The efficacy and risks of transabdominal free-hand ultrasound-guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.     

Early amniocentesis—a cytogenetic evaluation of over 1500 cases

We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14·5 days. Karyotyping was successful in 99·7 per cent of cases. In 9·9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X-chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0·5 per cent. The overall aberration rate was 2·8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).     

动水射流多参数优化耦合反演方法

通过数据驱动模型理论和变密度各项异性湍浮力射流模型的有机结合,提出了射流比和射流喷角多参数优化耦合反演的新方法:通过射流模型计算射流比和射流喷角多参数匹配设计的数值工况,构建计算水域内部观测点污染物浓度解集;以数据驱动模型理论建立状态变量(污染物稀释度)同控制变量(模型多参数)之间的非线性关系;将拟获得的稀释度带入关系中,进行模型多参数的组合优化反演研究,结果表明基于数据驱动模型理论的多参数反演方法可以获得最优的射流参数,有利于射流水体与环境水体间的掺混。     

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0–0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0–11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0–11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 13 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.     

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency,reliability, and risks on 317 completed pregnancies

Transabdominal chorionic villus sampling (TA-CVS) was attempted in 328 high-risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high-resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.     

Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a University Centre

The fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5-year period (1987–1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post-procedure loss was 6·7 per cent in the CVS group and 4·4 per cent in the AC group (p=0·08). The rate of spontaneous abortions was 1·9 per cent in the CVS group and 1·0 per cent in the AC group (p=0·10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA-CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.