Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.     

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.