Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.     

First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia

Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post-abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.     

Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

The nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere-specific probes and chromosome-specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision-making for the parents.     

Prenatal sonographic assessment of early,rapidly growing fetal cervical teratoma

Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid-trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.     

High time-resolved measurements of organic air toxics in different source regimes

High time-resolved (HTR) measurements can provide significant insight into sources and exposures of air pollution. In this study, an automated instrument was developed and deployed to measure hourly concentrations of 18 gas-phase organic air toxics and 6 volatile organic compounds (VOCs) at three sites in and around Pittsburgh, Pennsylvania. The sites represent different source regimes: a site with substantial mobile-source emissions; a residential site adjacent to a heavily industrialized zone; and an urban background site. Despite the close proximity of the sites (less than 13 km apart), the temporal characteristic of outdoor concentrations varied widely. Most of the compounds measured were characterized by short periods of elevated concentrations or plume events, but the duration, magnitude and composition of these events varied from site to site. The HTR data underscored the strong role of emissions from local sources on exposure to most air toxics. Plume events contributed more than 50% of the study average concentrations for all pollutants except chloroform, 1,2-dichloroethane, and carbon tetrachloride. Wind directional dependence of air toxic concentrations revealed that emissions from large industrial facilities affected concentrations at all of the sites. Diurnal patterns and weekend/weekday variations indicated the effects of the mixing layer, point source emissions patterns, and mobile source air toxics (MSATs) on concentrations. Concentrations of many air toxics were temporally correlated, especially MSATs, indicating that they are likely co-emitted. It was also shown that correlations of the HTR data were greater than lower time resolution data (24-h measurements). This difference was most pronounced for the chlorinated pollutants. The stronger correlations in HTR measurements underscore their value for source apportionment studies.