Fetal karyotype from cystic hygroma fluid

In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY, 46,XX, and 45,X (n = 3).     

山西堡子湾金矿区成矿流体场特征与隐伏矿床定位预测

综合运用遥感微差信息处理技术、水系沉积物X荧光测量和地表基岩伽玛能谱测量方法研究了山西堡子湾金矿的成矿流体场 ,发现主要的矿化蚀变带呈NW向展布 ,与含矿的NEE向角砾岩带斜交 ,表明成矿后受到一定程度的改造。矿区内存在着两类矿体 ,即陡倾斜的隐爆角砾岩型金矿和缓倾斜的蚀变岩型金矿 ,已知矿体和蚀变带主要受矿区南部的环形构造控制 ,该环形构造可能与隐伏岩体顶部拆离断层系统有关     

高温高压下C-O-H流体的研究

C O H流体是地球内部流体的主要组成部分 ,确定高温高压下它们的组成关系对于认识地球的演化、氧化还原环境以及促进包裹体的研究都具有重要的意义。高温高压实验确定了它们与石墨平衡存在一个间断温度 ,理论计算一般在此温度之上进行。当压力、温度确定时 ,再加上一个外部条件如fO2 或H/O比值 ,就可以得到它们的平衡组成。由于缺乏流体组分的高温高压热力学数据 ,目前的理论计算结果与实验值存在差别。电解质的出现和动力学因素影响着流体组分的平衡计算。加强系统研究 ,在实验中尽量采用就位分析的方法 ,获取更多更可靠的高温高压热力学数据 ,加强流体平衡影响因素的研究 ,是今后进一步的研究方向     

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the deficiency of incorporation of radiolabel from [¹⁴C]isovaleric acid in macromolecules in cultured fibroblasts. This paper reports a consecutive series of 24 prenatal diagnoses in pregnancies at high risk, using both methods-metabolite and indirect enzyme assay. Affected fetuses were diagnosed in four pregnancies: three in the second trimester and one recent case in the first trimester. The latter represents the first reported case of a first-trimester diagnosis of IVA by direct analysis of chorionic villi. We also report the first demonstration of strongly accumulated IVG in the amniotic fluid in the 12th week of an affected pregnancy.     

Alpha-fetoprotein and acetylcholinesterase activity in first-and early second-trimester amniotic fluid

Normal ranges of amniotic fluid alpha-fetoprotein (AFP) and acetylcholinesterase activity (AChE) are described for gestational weeks 11–14 using rocket gel immunoelectrophoresis for AFP quantitation and a monoclonal antibody (4F19) enzyme antigen immunoassay for AChE activity measurement. The normal ranges were established by the examination of 281 amniotic fluid samples from 281 normal pregnancies. AFP was found to increase from a median level of 14.0 MIU/1 at 11 weeks to a maximum at 13 weeks (median=18.0 MIU/l) (P<0.05), thereafter falling (not significant). No AChE test result exceeded 4.8 nkat/l. In addition, AFP and AChE values for three cases of fetal malformation, identified by the biochemical analyses of amniotic fluid, are given. These cases included two fetuses with a neural tube defect and one fetus with an abdominal wall defect. Amniocentesis was performed at 10, 11, and 14 weeks, respectively. The AFP and AChE values were all high.     

Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

In three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of ¹⁴C-citrulline into TCA-precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively. Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia.     

Prenatal diagnosis of 45,X/46,XX mosaicism: True mosaicism in only one of four primary cultures

45,X/46,XX mosaicism was found in only one of four primary amniotic fluid cultures. Repeat amniocentesis revealed 45,X/46,XX mosaicism in all four primary cultures. Mosaicism was confirmed in tissues from the abortus.     

Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid

We report relatively high trehalase activity in the amniotic fluid of two fetuses affected with the congenital nephrotic syndrome of the Finnish type. The results suggest that prenatal detection of this condition can be done on this basis in conjunction with the α-fetoprotein and acetylcholinesterase tests in amniotic fluid.     

光热平面快速成形技术

在原有快速成形技术上进行改进,提出了一种新型快速原型制造技术———光热平面快速成形技术,对它的原理进行了系统的阐述,并分析了它在理论上的可行性以及实践上的难点所在。     

Apolipoproteins in human fetal blood and amniotic fluid in mid-trimester pregnancy

To examine the potential for prenatal diagnosis of genetic lipoprotein metabolic defects (e.g. abetalipoproteinemia, Tangier disease) we determined the normal concentrations of apolipoproteins (apo) A-I, A-II, B, and E in mid-trimester amniotic fluid and fetal plasma. The concentrations of apo A-I and apo A-II in amniotic fluid were 1−2 per cent of the respective levels in the mother's plasma, whereas apo B and apo E were undetectable in amniotic fluid. In contrast to amniotic fluid, all four apolipoproteins were detectable in fetal plasma, and the levels of apo A-I, apo B and apo E were in the range observed in the mothers: 160·2 ± 103·1, 59·8 ± 35·7 and 5·7 ± 3·5 mg/dl respectively (mean ± SD, n=13). The fetal plasma level of apo A-II (28·3 ± 12·4 mg/dl) was two-thirds that observed in the mother's plasma. The normal levels of these apolipoproteins in fetal plasma are well above the sensitivity of the methods, and their quantification requires only 10−20 μl of fetal plasma. Determination of apolipoproteins in fetal blood obtained by fetoscopy thus may provide a method for the prenatal diagnosis of congenital apolipoprotein deficiences.