Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

Analysis of the Henze precipitate from the blood cells of the ascidian<Emphasis Type="Italic"> Phallusia mammillata</Emphasis>

The Henze precipitate, a peculiar blue-green microparticulate obtained by lysis of the blood cells of the ascidian Phallusia mammillata (Protochordata), was investigated with atomic force microscopy (AFM), scanning electron microscopy (SEM) and X-ray microanalysis. The precipitate was collected from the Henze solution, an unstable red-brown product obtained by treating blood with distilled water, whose degradation yields a characteristic blue-green product. The microparticulates measured 50–100 µm in diameter and appeared irregular in shape. SEM examination showed smooth, roughly round boundaries. The microparticulate surface examined with AFM appeared as an irregular matrix formed by 70–320-nm-wide mammillate composites, including and embedding small (500–800 nm wide) crystal-like multilayered formations. X- ray analysis showed that the elements present in these same precipitates were mainly C, Si, Al and O. The microparticulate composition appeared close to those of natural waxes or lacquers, embedding amorphous silicates and/or other Si–Al components. The unusual occurrence of Si in ascidian blood and its role are discussed.     

Evaluating the economic benefits of pesticide usage

In regulating the use of a pesticide, one critical element taken into consideration by the U.S. Environmental Protection Agency is the magnitude of the benefits provided by the pesticide. A number of alternative, and legitimate, definitions of pesticide benefits are discussed and their implications for the regulatory process identified. Recommendations for improving the regulatory process are proposed.     

Adult-onset GM2 gangliosidosis diagnosed in a fetus

Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of β hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM₂ ganglio-sidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat-inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of a chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG.