Isolating fetal cells in maternal circulation for prenatal diagnosis

Fetal cells unequivocally exist in and can be isolated from maternal blood. Erythroblasts, trophoblasts, granulocytes and lymphocytes have all been isolated by various density gradient and flow sorting techniques. Chromosomal abnormalities detected on isolated fetal cells include trisomy 21, trisomy 18, Klinefelter syndrome (47,XXY) and 47,XYY. Polymerase chain reaction (PCR) technology has enabled the detection of fetal sex, Mendelian disorders (e.g. β-globin mutations), HLA polymorphisms, and fetal Rhesus (D) blood type. The fetal cell type that has generated the most success is the nucleated erythrocyte; however, trophoblasts, lymphocytes and granulocytes are also considered to be present in maternal blood. Fetal cells circulate in maternal blood during the first and second trimesters, and their detection is probably not affected by Rh or ABO maternal-fetal incompatibilities. Emphasis is now directed toward determining the most practical and efficacious manner for this technique to be applied to prenatal genetic diagnosis. Only upon completion of clinical evaluations could it be considered appropriate to offer this technology as an alternative to conventional invasive and non-invasive methods of prenatal cytogenetic diagnosis.     

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sono-graphic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.     

The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls

Out of 13 252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.     

First trimester diagnosis of Gaucher disease in a fetus with trisomy 21

A 38-year-old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of β-glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY, + 21 cells which were deficient in β-glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells.     

Mid-trimester fetal sex determination from maternal peripheral blood by fluorescence in situ hybridization without enrichment of fetal cells

To determine the fetal sex on 30 women who were 16–20 weeks pregnant, about 100 000 maternal blood nucleated cells were analysed by means of fluorescence in situ hybridization (FISH) with a Y-chromosome-specific DNA probe. Cells with the hybridization signal were detected in 12 of the 30 women. All the 12 mothers gave birth to a male child. Of the other 18 women who had no Y-positive cells in the peripheral blood, 14 gave birth to a female child and four gave birth to a male child. These false-negative results probably occurred because the number of cells examined was inadequate. The data obtained in this study suggest that fetal sex determination using maternal peripheral blood with FISH is possible and that this diagnostic method will be clinically useful when more cells are analysed.     

A misdiagnosis of X-linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome analysis and analysis of polymorphic markers. This is the second report of a fetus affected with this disorder who showed normal cultured chorionic villus cell VLCFAs. It highlights the importance of a proper audit of all prenatal diagnoses to evaluate method reliability.     

自焙槽烟气湿法净化回收料的综合利用

铝电解自焙槽烟气湿法净化回收料的技术迄今尚未见报导。为此针对该回收料的组成及浮选法综合利用工艺进行了研究。结果表明：浮选法能使净化回收料中的碳和电解质得以有效分离；浮选碳粉可用作自焙槽阳极配料，浮选电解质经６００℃焙烧后可再用作铝电解质。     

The Nile delta-Alexandria coast: vulnerability to sea-level rise,consequences and adaptation

Like many delta systems, the coastal zoneof the Nile delta has been designated as avulnerable zone to a rising sea level as aconsequence of expected climate changescombined with geological and human factors.In view of the understanding of thesefactors, a degree of vulnerabilityanalysis has been carried out to betterlocate which sectors need to be assessedand adapted to possible sea level rise(SLR) for the Nile delta-Alexandria region of Egypt.Results reveal that not all of the coastalzones of the Nile delta are vulnerable toaccelerated sea-level rise at the samelevel. Based on multiple criteria the Niledelta-Alexandria coast can be categorizedinto vulnerable (30%), invulnerable (55%)and artificially protected coastalstretches (15%). These criteria include:local subsidence or uplifting, relativesea-level rise (RSLR), land topography,width of lagoon barriers, beach-face slope,high-elevated features such as dunes andridges, eroding and accreting coastlinesand protection works.Moreover, this study evaluates thelong-term relative sea-level rise andsubsidence rates along the Nile delta andAlexandria coasts. Statistical analysis oflong-term tide gauge data recorded atAlexandria, Burullus and Port Said yieldsvalues of 1.6, 1.0 and 2.2 mm/yr,respectively. These values of relativesea-level rise and long-term subsidencerate obtained from age-dated sediment coresections are inconsistent: long-termsubsidence appears to be larger (maximum of7 mm/ yr). This discrepancy might beexplained if the subsidence is episodic,and occurs rather abruptly during majorearthquakes that occur every few hundredyears associated with fault trend lines.Rising sea levels could have significantlongterm impacts on the Nile delta,including the distribution of ground watersalinity and erosion of the narrow andlow-lying barriers of the Burullus andManzala lagoons. Adaptive measures alongthe study area particularly those relatedto coastal protective structures are alsoevaluated.     

The characterization of hCG regulation in cultured human amniotic fluid cells

The media from primary cultures and subcultures of second trimester human amniotic fluid (AF) cells were assayed by radioimmunoassay to quantitate production of human chorionic gonadotropin (hCG). Primary AF cultures produce more hCG per cell than do the corresponding subcultures. Sodium butyrate (2 mM) stimulates AF subcultures to produce 5-13 times more hCG per cell or per mg of cellular protein than do untreated subcultures. This stimulatory effect of sodium butyrate is dose dependent between 0 and 5 mM. Addition of sodium butyrate 24 hours after subculture, while stimulating production of hCG during the subsequent 3 days, also results in fewer cells and less protein per culture. This effect on cell growth is also dose-dependent. Previous investigators have proposed that the stimulation of hCG by sodium butyrate in other types of cell cultures is due to an effect of that agent on culture growth. Therefore, in these studies AF cells are allowed to grow to confluency before sodium butyrate was added. Production of hCG was stimulated by sodium butyrate about four-fold during the next 5 days although no significant changes were observed either in number of cells or amount of cellular protein per culture. These results suggest that stimulation of hCG by sodium butyrate is not dependent on its effect on growth of the cultures.     

中国沿海常见棘毒鱼类的毒性研究：日本鬼背鳍棘中Ⅰ型毒腺细？…

皮光、电镜方法研究了日本鬼Ｙｏｕ背鳍棘中Ⅰ型毒腺细胞的形成过程。结果表明：位于背鳍棘两侧纵沟内的毒腺组织周围有较致密的结缔组织的鞘膜包绕，该鞘膜钝性剥离后可见内面光滑，有Ⅰ型和Ⅱ型型毒腺细胞的痕迹。而毒腺组织内下侧与毒棘的骨组织相连处结缔组织疏松，有许多小的梭形细胞；在梭形细胞之间及周围有新形成的幼稚腺细胞，其组织结构类似Ⅰ型毒腺细胞。透射电镜下可见该区域的结缔组织中除结缔组织的细胞及成分以外，有