The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.     

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.     

Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy

We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.     

Gold mining in Siberia and the Far East as a source of mercury contamination of the environment

ＩｎｔｒｏｄｕｃｔｉｏｎＳｉｂｅｒｉａａｎｄｔｈｅＦａｒＥａｓｔａｒｅｔｈｅｏｌｄｅｓｔａｎｄｔｈｅｒｉｃｈｅｓｔｇｏｌｄ ｍｉｎｉｎｇａｒｅａｓｏｆＲｕｓｓｉａ .Ｉｎｔｅｎｓｉｖｅｇｏｌｄ ｍｉｎｉｎｇｈｅｒｅｓｔａｒｔｅｄｉｎｔｈｅｂｅｇｉｎｎｉｎｇｏｆｔｈｅ 19ｔｈｃｅｎｔｕｒｙ(Ｖｙａｚｅｌｓｈｃｈｉｋｏｖ ,1963) .Ｆｏｒｔｈｅｍｏｓｔｐａｒｔｇｏｌｄ ｂｅａｒｉｎｇｏｒｅｓａｎｄｓａｎｄｓｗｅｒｅｐｒｏｃｅｓｓｅｄｗｉｔｈｔｈｅｕｓｅｏｆａｍａｌｇａｍａｔｉｏｎｍｅｔｈｏｄｆｏｒｇｏｌｄｅ…