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.     

Partial trisomy 22q12→qter in prenatal diagnosis

Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious meta-centric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12→qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature.     

聚合氯化铝中Al_(13)形态水解稳定性的研究

采用聚丙烯酰胺凝胶柱层析法分离纯化聚合氯化铝(PAC)中的Al13形态,并采用Al-Ferron逐时络合比色法对比研究了Al13形态、PAC和Al13三种样品水解稳定性。研究结果表明Al13形态无论是对于稀释倍数、介质的pH值和水解时间都具有较高的水解稳定性,是给水和废水处理中的一种较为有效的Al形态。     

Amniotic fluid microvillar enzyme activities in the early detection of fetal abnormalities

Measurement of the microvillar enzymes, γ-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities have now been examined. GGTP activities were below the 5th percentile in 28 out of 54 cases of trisomy 21 and 9 of 14 cases of trisomy 18, while APM values were below this cut-off in 26 of 54 cases of trisomy 21 and 8 of 14 cases of trisomy 18. Abnormal ALP isoenzyme ratios were found in 6 of 54 cases of trisomy 21 and 4 of 14 cases of trisomy 18. If prenatal cytogenetic studies are routinely carried out on amniotic fluid cells, the occasional confounding effect of abnormal microvillar enzymes associated with fetal trisomies rather than with cystic fibrosis should be avoided.     

Separating method and dynamic processes of Nano-Al13

In order to investigate the characteristics of pure Nano-Al₁₃, Nano-Al₁₃ was separated and purified from a series of poly-aluminum chloride (PAC) solutions which had the same Al₁₃ percentage but different total Al concentrations, by using column chromatography, ethanol-acetone resolving and SO²⁻ ₄/Ba²⁺ displacement. The Al₁₃ species yield was characterized by Al-ferron timed complexation spectrophotometry and ²⁷Al-NMR (nuclear magnetic resonance). The coagulation efficiency of Nano-Al₁₃, PAC and AlCl₃ in synthetic water was also investigated by Jar tests. The dynamic process and aggregation state of kaolin suspensions coagulating with Nano-Al₁₃, PAC and AlCl₃ were similarly investigated using a photometric dispersion analyzer 2000 (PDA2000). The experimental results indicated that the ethanol-acetone resolving method was simple and could separate the PAC solution at different concentrations, while column chromatography could separate PAC solutions at low concentrations. The SO₄ ²⁻/Ba²⁺ displacement method could separate PAC solutions at high concentrations. However, extra inorganic cation and anion could be added in the solution during separation. The coagulation efficiency and dynamic experimental results showed that Nano-Al₁₃ with high positive-charged species was effective in removing turbidity and color. The dynamic process results showed that Nano-Al₁₃ also had the best recovery capability after shearing compared with PAC and AlCl₃ because the Nano-Al₁₃ conformation is more effective in charge neutralization. Translated from Acta Scientiae Circumstantiae, 2005, 25(6): 767–772 [译自: 环境科学学报]     

~（13）C同位素稀释法测定国产多氯联苯的2，3，7，8－TCDD毒性当量

应用质量控制方法测定了２种国产商品多氯联苯（ＰＣＢｓ）中１７个２，３，７，８位有氯取代的二　同族体，获得准确的定量结果，加入￣（１３）Ｃ标记物的ＰＣＢｓ样品用多级酸碱硅胶柱和氧化铝柱提取分离，用毛细管色谱／高分辨质谱定量，２种样品中都含有较多的２，３，７，８－ＴＣＤＦ和２，３，７，８－Ｐ＿５ＣＤＦ。１￣＃ＰＣＢ的２，３，７，８－ＴＣＤＤ毒性当量值为２１７ｎｇ／ｇ，２￣＃ＰＣＢ为４１７ｎｇ／ｇ，毒性主要来自ＰＣＤＦｓ，并与国外同类商品ＰＣＢｓ作了比较。     

Fetal ear measurements in the prenatal detection of trisomy 21

Although prominent fetal nuchal folds, short long bones, echogenic bowel, and renal pelviectasis have been shown to be associated with trisomy 21, none has acceptable diagnostic efficacy. Diminished fetal ear lengths measured by ultrasound have recently been reported as yet another potential morphological marker for the prenatal detection of trisomy 21. To investigate this further, we measured ear lengths and widths of normal (n = 107) and trisomy 21 (n = 25) second-trimester formalin-preserved fetuses. The normal ear growth characteristics are described and compared with those of trisomy 21 fetuses. The normal fetal ear shape, not unlike that of the neonates, manifested a marked variation. When the ear lengths and widths were regressed against gestational age, the slopes of the regression lines for the two groups were found to be different (P < 0·001). However, despite the statistically significant difference between the ear sizes of normal and trisomy 21 fetuses, the wide range of normal variation seen at each gestational age means that the fetal ear measurements are not diagnostically helpful.     

Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift)

A rare chromosomal aberration consisting of a chromosomal shift was found in a woman who had prenatal diagnosis because she had previously had a malformed girl with phenotypic features compatible with the diagnosis of Patau syndrome. Chromosome analysis using G, C, and NOR banding showed a direct intrachromosomal insertion of bands 13q12 to 13q14 onto the short arm of chromosome 13 at band 13p13. We discuss this observation and compare it with other published reports of chromosomal shifts.     

Isolated choroid plexus cysts—the need for routine offer of karyotyping

The management of isolated fetal choroid plexus cysts remains controversial. We have prospectively studied 15 565 pregnancies at two large obstetric units for the presence of choroid plexus cysts. In all cases where cysts were present at 19 weeks' gestation or greater, and were multiple, bilateral or solitary and greater than 5 mm maximum diameter, women were offered amniocentesis or placental biopsy, irrespective of the presence or absence of other abnormalities. Choroid plexus cysts were present in 152 (0·98 per cent) of cases. Four cases (2·6 per cent) of autosomal trisomy (three of trisomy 18, one of trisomy 21) were detected on prenatal karyotyping. In all cases, choroid plexus cysts were the only detectable prenatal anomaly. This study and a review of other large studies do not support the view that isolated choroid plexus cysts are a benign variant, the risk of trisomy being 1 in 82. Until further evidence is available, we recommend that cases of isolated fetal choroid plexus cysts at 19 weeks' gestation or greater should be offered prenatal karyotyping.     

纳米Al13的分离方法及混凝效果动态过程的研究

以相同Al13含量、不同浓度的PAC为原料,利用乙醇-丙酮混合溶剂法、SO4^2-／Ba^2 沉淀置换法以及柱层析法分离提纯纳米Al13形态,同时利用Al-Ferron逐时络合比色法、^27Al-NMR等多种现代分析手段进行分析鉴定,比较其分离效果,并采用烧杯实验法和透光率脉动检测技术对Al13形态以及PAC、AlCl3的絮凝效果及絮凝过程中絮集物形成和增长的变化差异作了对比性研究．实验结果表明,乙醇．丙酮混合溶剂法对Al13分离纯化效果最好,分离所得Al13平均粒径大,聚合程度高．柱层析法受柱体积的影响只对低浓度的PAC有较好的分离效果;SO4^2-／Ba^2 沉淀置换法虽具有较好的分离效果,但分离过程有其他杂质离子的加入,影响到产品品质．混凝效果和动态实验结果表明,Al13形态是在絮凝过程中起电中和作用的主要形态,具有较强的除浊及脱色能力,在混凝过程中当絮体受到剪切力的破坏时Al13形态比PAC和AlCl3具有更强重新絮凝的能力．