Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype

From September 1985 to March 1992, 804 amniotic fluid samples from 64 different diagnostic centres of the Federal Republic of Germany were sent to our laboratory exclusively for rapid karyotyping. The average time needed for notification of the analysed karyotype was 4·65 days when the ‘pipette method’ was used for chromosome harvesting and 5·97 days when the ‘in situ’ technique was used. The overall incidence of chromosome aberrations was 15·3 per cent. Data are presented about the likelihood of abnormal ultrasound findings being caused by chromosome aberrations. These findings include polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects. In future, such data need to contain larger numbers of cases for each week of gestation. This will improve the risk evaluation for each case with abnormal ultrasound findings, which should lead to better management during pregnancy, delivery, and postnatal care for those who require rapid karyotyping.     

Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.     

Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: Mosaicism confirmed in cord blood,amnion, and chorion

Sex chromosome mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis. Chromosome analysis of 56 primary clones of amniocytes revealed three distinct cell lines. Nine cells (16.1 per cent) demonstrated a 45,X karyotype, 11 cells (19.6 per cent) a 47,XXX karyotype, and the remaining 36 cells (64.3 per cent) had a modal number of 46 chromosomes (46,XX). Cytogenetic evaluation of 100 cells from cord blood, amnion, and chorion following delivery confirmed this triple mosaicism. However, the distribution of the three karyotypes in the pre- and postnatal samples was not found in the same proportions. The cord blood had the most similar frequency to that of the amniotic fluid sample, while the chorion had a significantly increased frequency of 47,XXX cells (41 per cent) and a decreased frequency of 45,X cells (2 per cent). Physical examination of the infant at birth revealed no discernible phenotypic abnormalities. Parental karyotypes were normal. This case highlights the difficulty in determining whether a prenatally detected abnormality will be associated with postnatal phenotypic deviation.     

Free radicals and chromosome aberrations in leaves of woody plants as a test system for the genotoxicity of the urban environment

A new method for estimating the genotoxicity of the urban environment is proposed. The method is based on the analysis of the lipid peroxidation (LPO) rate in leaves of woody plants. The mutagenicity of the urban environment was estimated using standard test systems, including plant root meristem (kidney beans germinated in water with suspended particles collected at different points along the Temernik River) and the Ames test (silt samples were tested). Sensitivities of elm, willow, and poplar leaf meristem cells to unidentified environmental mutagenes were compared. Frequencies of chromosome aberrations (CAs) in leaves of woody plants growing at different points along the Temernik River within the Rostov-on-Don city districts differed from those in the control zone. The frequency of CAs was found to correlate with the concentration of LPO products. This allows a biochemical estimation of the malonic dialdehyde (MDA) concentration in woody plants to be used as an express test for the mutagenicity of environmental factors. An advantage of the proposed test is the possibility of monitoring the level of unidentified environmental mutagens over many years, independently of its sporadic temporal variations.     

不同粒径大气颗粒物几种重金属成分分析及其致突变性研究

采集冬季太原市一采样点不同粒径大气颗粒物,经分析,总悬浮颗粒物日均浓度为1.04mg/m~3,严重超标。其中粒径小于7.0μm的占49.6％,小于3.3μm的占33.5％。颗粒物无机提取液中5种金属元素的浓度由高到低依次为Pb、Mn、Cr、Ni和Cd。每一种元素均呈随颗粒物粒径减小浓度增高的趋势。以SOS显色法和小鼠体内骨髓细胞染色体畸变试验检测颗粒物的无机提取液和模拟肺泡液溶出液的遗传毒性,表明小粒径颗粒物遗传毒性较强;小于1.1μm的颗粒物,仅用相当于5m~3或10m~3空气量的样品液,即可诱发SOS反应或致染色体损伤。     

APM对小麦根尖分生组织细胞异常有丝分裂的诱导

探讨了不同浓度（c／μmol．L－1）和不同处理时间（t／h）下APM对小麦根尖分生组织细胞有丝分裂的影响．实验结果表明，在c（APM）＝1～4μmol／L、处理t＜5h可明显提高有丝分裂指数，对前期和中期细胞分裂的促进作用更为明显；但c（APM）的增加与有丝分裂指数的提高无明显线型关系；APM可促使间期细胞微核形成、中期细胞染色体聚合现象和扰乱纺锤丝的功能．纺锤丝功能上的扰乱可引起细胞的“不均等分裂”和“多极化分裂”形成上述两种细胞异常有丝分裂的临界浓度和处理时间分别为c＝5μmol／L和t＞5h．     

Effects of Zn~（2＋） on root growth，cell division，and nucleoli of Allium cepa L．

ＥｆｆｅｃｔｓｏｆＺｎ~（２＋）ｏｎｒｏｏｔｇｒｏｗｔｈ，ｃｅｌｌｄｉｖｉｓｉｏｎ，ａｎｄｎｕｃｌｅｏｌｉｏｆＡｌｌｉｕｍｃｅｐａＬ．￥ＬｉｕＤｏｎｇｈｕａ；ＪｉａｎｇＷｕｓｈｅｎｇ；ＷａｎｇＣｈｕｎｌｉ（ＤｅｐａｒｔｍｅｎｔｏｆＢｉｏｌｏｇｙ，Ｔｉ?..     

Prenatal diagnosis of a fetus with an extra idic(X) (q27)

A fetus with an extra idic(X) (q27) was ascertained during prenatal diagnosis. The derived X and one normal X chromosome were late replicating. Due to lack of previous experience, genetic counselling presented obvious difficulties and the fetal phenotype could be only tentatively predicted.     

Pericentric inversion of the Y chromosome and prenatal diagnosis

Pericentric inversion of the human Y chromosome has been estimated to occur with a frequency of 1–2 per thousand in various populations, and the results of this study, derived from over 12 000 prenatal diagnosis cases, is 1.15 per 1000. In these cases, it was concluded that there was no clinical significance because the fathers and male fetuses had the same pericentric inversion. Chromosome analysis of the father is advisable to determine whether or not the inversion is familial in order to be able to provide genetic counselling.