Macroglossia: Prenatal ultrasonographic diagnosis and proposed management

A case in which macroglossia was the sole unusual prenatal sonographic finding in a fetus affected with trisomy 21 is presented. The differential diagnosis of fetal macroglossia is given, emphasizing its strong relationship to fetal aneuploidy, together with the principles for evaluation and management.     

川西南阿什及尔期地层中的Ce异常及其古海洋学意义

川西南阿什及尔期地层中的全岩REE分配模式显示 ,含有浮游笔石和小型无铰纲腕足类的黑色页岩具有较低的Ce异常值 (0 .6 2～ 0 .74) ,而含有底栖三叶虫、有铰纲腕足类和藻类的非黑色页岩则具有较高的Ce异常值 (0 .92～ 1.30 )。Ce与其他元素的相关分析进一步揭示 ,Ce与Fe的相关性最好 (r =0 .85 ) ,与P的相关性次之 (r =0 .6 1) ,与Al的相关性较差 (r =0 .2 9) ,而与Mn和Ca几乎不相关 (r =0 .14,r =- 0 .0 2 )。实际观察可能表明 ,研究区底层水体在氧化和碱性条件下 ,Ce氧化为Ce4 + 并进入Fe的氢氧化物和磷酸盐的晶格中 ,或者被吸附到它们的表面 ,造成Ce在氧化水体中呈现负异常而在同期氧化沉积物中呈现正异常或负异常不明显 ;相反 ,在还原和酸性条件下 ,Ce在水体中以 +3价状态富集 ,引起Ce在同期缺氧沉积物中呈现明显负异常。作为古海水氧化还原指示的全岩Ce异常 ,通常限定于解释远洋细粒沉积物的沉积环境。我们的研究结果说明 ,移去化石骨骼 (通常是磷酸盐化石骨骼 )的浅海细粒沉积物同样可以用于全岩REE分析 ,以获得可靠的能够指示古海水氧化还原条件变化的Ce异常     

Evaluation of prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.     

Women's choices for fetal chromosome analysis

Five hundred and eighty women aged 35 or more at the expected date of delivery were offered the chance to join the MRC trial comparing CVS and amniocentesis at Queen Charlotte's Hospital. After a 1 h non-directive counselling session, they were asked to choose between having no test, having amniocentesis, or joining the trial in the hopes of having CVS (or in some cases having CVS outside the trial). The majority of women chose to have some test, and CVS was a more popular choice than amniocentesis.     

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12 , 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).     

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.     

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age. Frequencies of chromosomal aberrations in each case were respectively 4·4, 6·7 and 15·8 per cent, compared with 3·18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29·2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21·5 per cent chromosomal aberrations were observed. This frequency was 10·4 per cent when growth retardation was associated with an amniotic fluid disorder. Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4·9 per cent) and balanced (3·3 per cent) or unbalanced (9·8 per cent) non-Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.     

染色体步行PCR技术

染色体步行是一种常用的克隆已知基因旁侧序列的技术.本文综述了现有的染色体步行PCR技术,如反向PCR、锅柄PCR、连接介导PCR、热不对称PCR、SON PCR等,并在此基础上提出了一种新的染色体步行PCR技术的构思.它运用特异引物与随机引物的搭配,在普通PCR程序下扩增目的序列.实验中设置相应随机引物的RAPD对照,识别非目的扩增产物.文中介绍了新方法的原理,分析了这种方法的优缺点.这种方法可能是一种新的有效进行染色体步行的PCR技术,国内外尚未见相关报道.图2参26     

Do female roe deer in good condition produce more sons than daughters

In polygynous roe deer Capreolus capreolus, males are only slightly heavier than females and the overall sex ratio at birth is close to unity. We studied offspring sex ratio and litter size (range 1–4, n = 74) of culled females, in utero, which provided an opportunity to examine responses of sex ratio to maternal condition. Male embryos were heavier than their sisters, and male fawns (9 months old) heavier than female fawns, suggesting a higher growth rate in males. There was no evidence for differential mortality between the sexes from birth to 9 months old. Heavier adult females produced larger embryos than lighter, or primiparous females. The overall sex ratio of embryos did not differ from unity, but adult does had more male embryos (55%) than primiparous does (32%), and the proportion of male embryos in a litter increased with the mother's body mass. Litter size also tended to increase with maternal age and body mass. We argue that this pattern reflects adaptive variation in offspring sex ratio.     

荔枝花发育过程中雌雄蕊内源激素的动态变化

分析了荔枝花性别决定中雄蕊和雌蕊内源激素含量的动态变化 .结果发现 :雌蕊的发育与较高浓度的IAA和iPAs相关联 ;GA和ZRs的含量在较低浓度时有利于性器官发育 ,而较高浓度则抑制了对应性器官的发育 ;在败育的雄蕊或雌蕊中都含有较高浓度的ABA ,但从激素平衡的角度分析 ,促进生长物质与抑制生长物质的比值相对高时 ,即雄蕊的ABA浓度相对较低 ,雄蕊发育正常 ;当该比值相对较低时 ,即雌蕊的ABA浓度相对较高 ,雌蕊发育正常 .提出调节荔枝雌、雄花的发育不是某一种激素单独作用的结果 ,而是各种激素在时间、空间上的相互作用产生的综合效果 .图 2表 2参 17