Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.     

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.