Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

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.     

Metamorphic evolution of eclogite and associated garnet-mica schist in the high-pressure metamorphic Maksyutov complex, Ural, Russia

Metasedimentary garnet-mica schists are interlayered with metabasic garnet–omphacite schists and enclose eclogite boudins in the high-pressure metamorphic Maksyutov complex in the Southern Urals, Russia. These three rock types were investigated in one outcrop and compared chemographically and thermobarometrically. The Fe/Mg distributions between garnet rim–omphacite and garnet rim–phengite pairs indicate different equilibration temperatures for the three samples, with the lowest temperature (500°C, >1.5 GPa) for the eclogite boudin, an intermediate temperature (630°C, >1.7 GPa) for the foliated eclogite and the highest temperature (650°C, >1.7 GPa) for the garnet-mica schist. The garnets in garnet-mica schist enclose abundant chloritoid relics and the Fe/Mg distribution between chloritoid and garnet records an earlier high-temperature stage (650°C, >2.0 GPa) before the garnet rim–phengite temperatures were reached. Together with some minimum- and maximum-pressure estimates three different prograde pressure–temperature paths and a common retrograde metamorphic evolution are interpreted from the chemographic and thermobarometric data. The different early metamorphic evolutions and conditions confirm the variability of protoliths, which are also indicated by different U/Pb zircon and rutile ages.