First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

The significance of prenatal diagnosis of choroid plexus cysts

A case is described of the prenatal diagnosis of choroid plexus cysts at 17 weeks' gestation which persisted beyond 36 weeks but could not be detected after delivery. At birth the child was found to have trisomy 18.     

Carrier screening for cystic fibrosis

A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.     

复合氧化物汽车尾气净化催化剂抗SO2中毒机理研究

复合氧化物催化剂(ASC)具有较高的活性和良好的抗SO_2中毒性能.用IR、XPS、TPD等技术研究了该催化剂抗SO_2中毒机理,结果表明,与易失活催化剂相比,ASC经500h反应(反应气含SO_2约20ppm),其活性组分价态无显著变化,仅表面发生SO_2的化学吸附,经与约500ppm的SO_2作用20h后,发现仅有少量SO_4~(2-)形成.这是由于在ASC催化剂中添加了特殊助剂,而使催化剂活性组分得到保护的缘故.     

Prenatal diagnosis of Chediak-Higashi syndrome

We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).     

Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood

Fetal nucleated erythrocytes (NRBC) in maternal blood are a non-invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation. Using anti-CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti-CD 36, it was 88 per cent correct. Anti-GPA, an erythrocyte-specific antigen, used alone or in combination with anti-CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction.     

Serum alpha-fetoprotein and neural tube defects in the first trimester of pregnancy

As part of the Medical Research Council randomized trial of vitamin supplementation in the prevention of neural tube defects (NTDs), maternal serum alpha-fetoprotein (AFP) was available for 19 NTD pregnancies. Each of these was matched with four unaffected controls, by maternal age, participating centre, and duration of sample storage. The samples came from women whose gestational age ranged from 6 to 14 completed weeks. The median AFP level in the affected pregnancies was 1·2 multiples of the median value in unaffected pregnancies of the same gestational age (95 per cent confidence interval (CI) 0·83–1·59). This confirmed the view that serum AFP measurement is of no practical value in the detection of NTDs in the first trimester of pregnancy. The study also showed that folic acid supplementation, used as a method of preventing NTDs, had no effect on the concentrations of maternal serum AFP up to 14 weeks of pregnancy.     

Insights into reactive oxygen species formation induced by water-soluble organic compounds and transition metals using spectroscopic method

Ambient particulate matter (PM) can cause adverse health effects via their ability to produce Reactive Oxygen Species (ROS). Water-Soluble Organic Compounds (WSOCs), a complex mixture of organic compounds which usually coexist with Transition Metals (TMs) in PM, have been found to contribute to ROS formation. However, the interaction between WSOCs and TMs and its effect on ROS generation are still unknown. In this study, we examined the ROS concentrations of V, Zn, Suwannee River Fulvic Acid (SRFA), Suwannee River Humic Acid (SRHA) and the mixtures of V/Zn and SRFA/SRHA by using a cell-free 2′,7′-Dichlorodihydrofluorescein (DCFH) assay. The results showed that V or Zn synergistically promoted ROS generated by SRFA, but had an antagonistic effect on ROS generated by SRHA. Fluorescence quenching experiments indicated that V and Zn were more prone to form stable complexes with aromatic humic acid-like component (C1) and fulvic acid-like component (C3) in SRFA and SRHA. Results suggested that the underlying mechanism involving the fulvic acid-like component in SRFA more tending to complex with TMs to facilitate ROS generation through π electron transfer. Our work showed that the complexing ability and complexing stability of atmospheric PM organics with metals could significantly affect ROS generation. It is recommended that the research deploying multiple analytical methods to quantify the impact of PM components on public health and environment is needed in the future.     

城市污水高效低耗生物脱氮工艺研究

采用活性污泥与生物膜法相结合工艺处理城市生活污水，可以高效去除污水中的有机物和NH4^ -N。研究结果表明：水力停留时间为7．5h、回流比为1．5、无外加碳源时，COD的去除率大于90％，NH4^ -N的去除率大于99％；平均出水COD小于40mg／L，NH4^ -N小于1mg／L，TN的去除率60％左右；反硝化过程的适宜C／N为4～5。