PubMed · 89273
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J J Sannella. 1979. Alpha fetoprotein.. https://pubmed.ncbi.nlm.nih.gov/89273/
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The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the level of 3beta-hydroxysteroid-delta7-reductase, resulting in a decreased level of cholesterol and an increased level of 7-dehydrocholesterol (7DHC) in body fluids and tissues. We report on our experience with the prenatal diagnosis of RSH/SLOS by quantitative sterol chromatography in amniotic fluid (AF) and chorionic villus (CV). Of 76 AF and nine CV samples analyzed for various indications, 20 were diagnostic of RSH/SLOS based on an increased level of 7DHC in the fluid or tissue. Of 39 fetuses at a 25% risk for RSH/SLOS, 10(25.6%) were affected. Twenty-nine pregnancies not known to be at risk for RSH/SLOS were studied because of either a fetal abnormality characteristic of RSH/SLOS detected by ultrasound, a low maternal serum uE3 level (MSuE3), or both. None of the pregnancies tested, because of a low MSuE3 but lacking a sonographic abnormality characteristic of RSH/SLOS, was affected. However, three of four pregnancies with a low MSuE3 and an RSH/SLOS-type fetal abnormality were positive. RSH/ SLOS was diagnosed in two additional pregnancies on which MSuE3 data were not available but in which fetal anomalies were identified. Of these five RSH/SLOS fetuses identified in pregnancies not otherwise at risk for RSH/SLOS, the presenting sonographic anomaly was either polydactyly, ambiguous genitalia, or both. Evaluation of the biochemical parameters and clinical severity of RSH/SLOS showed that there was an inverse correlation between clinical severity and both the level of AF 7DHC and the level of MSuE3. Based on these earlier and more extensive studies, we conclude that accurate prenatal diagnosis of RSH/ SLOS is possible by sterol analysis of AF and, most likely, CV specimens as well. Furthermore, our findings suggest that MSuE3 levels in combination with sonography may provide useful diagnostic and prognostic information in the absence of a family history of RSH/SLOS.
OBJECTIVE: Urinary trypsin inhibitor, a light chain of inter-alpha-trypsin inhibitor, is reported to inhibit uterine contractility during pregnancy. The objective was to measure amniotic fluid urinary trypsin inhibitor levels in women throughout pregnancy. STUDY DESIGN: We determined levels of urinary trypsin inhibitor in human amniotic fluid (n = 40) by means of Western blot analysis. For quantification, computerized scanning and densitometry were used. Results were analyzed for statistical significance with the Mann-Whitney U test. RESULTS: During pregnancy, mean amniotic fluid urinary trypsin inhibitor levels (+/-SD) were 1.5 +/- 0.22, 1. 2 +/- 0.18, and 0.58 +/- 0.24 micromol/L at 15 to 22 (n = 10), 30 to 35 (n = 5), and 37 to 40 (n = 10) weeks' gestation, respectively. There was a significant negative correlation of urinary trypsin inhibitor level with gestational age. A significant difference was observed in amniotic fluid urinary trypsin inhibitor levels before and after (0.10 +/- 0.03 micromol/L; n = 15) the onset of labor. CONCLUSION: Amniotic fluid urinary trypsin inhibitor levels decrease significantly at term. These results support the hypothesis that parturition may occur through the down-regulation of urinary trypsin inhibitor, which may decrease uterine contractility and maintain the uterus in a state of quiescence during pregnancy.
OBJECTIVE: A total of 131 anaerobes isolated from amniotic fluid with preterm premature rupture of membranes and stored were examined for elastolytic activity by the method described by Williams et al (Lett Appl Microbiol 1988;7:173-6). STUDY DESIGN: Each strain was spot inoculated on a Columbia blood agar plate containing 1% solubilized elastin and incubated for 5 days under anaerobic conditions. Undigested elastin was precipitated by flooding trichloroacetic acid solution onto the plate, and a clear zone was visible as the elastolytic reaction around the spot of bacterial growth. RESULTS: Ninety-three (71.0%) of 131 organisms showed a positive elastolytic reaction. Eleven of 20 strains (55.0%) of Peptostreptococcus magnus, 9 of 18 strains (50.0%) of Peptostreptococcus micros, 12 of 12 strains (100.0%) of Fusobacterium nucleatum, 15 of 28 strains (53.6%) of Bacteroides fragilis, 8 of 15 strains (53.3%) of Bacteroides thetaiotaomicron, and 38 of 38 strains (100.0%) of Prevotella bivia were elastolytic. CONCLUSION: Anaerobic bacterial species prevalent in the normal vaginal flora that were isolated from amniotic fluid of women with preterm rupture of membranes produced elastolytic activity, plausibly inducing the destruction of host constitutive components.