Maternal platelet size as a marker for fetal trisomies 18 and 13

Maternal and fetal platelet size and glycoprotein expression were measured in 14 pregnancies complicated by fetal aneuploidy between 20 and 24 weeks' gestation. Flow cytometry was used to determine platelet size and surface glycoprotein Ib (GPIb) and GPIIIa expression both before and after stimulation with adenosine diphosphate (ADP). The data were compared with results obtained from 35 normal paired maternal and fetal controls. In fetuses affected with trisomies 18 and 13, but not trisomy 21, the maternal and fetal platelet sizes were significantly higher than those of the normal controls. Furthermore, the increase in fetal platelet size was significantly associated with the increase in maternal platelet size. Increase in maternal platelet size may be of potential value as a marker for fetal trisomies 18 and 13.     

Early invasive prenatal diagnosis in HBsAg-positive women

From 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg-positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against HBsAg. A retrospective analysis of the pregnancy outcome in HBsAg-positive women who had invasive tests for prenatal diagnosis was carried out to determine whether amniocentesis and chorionic villus sampling (CVS) are risk factors for the intrauterine transmission of the hepatitis B virus. Amniocentesis was carried out in 17 HBsAg-positive women and CVS in one case. Only two women were HBsAg- and HBeAg-positive. Prenatal diagnosis led to the termination of pregnancy for fetal chromosome abnormality in three cases. The remaining 15 pregnancies were uneventful; all infants were negative for HBsAg and developed an active immune response to the vaccine. These data suggest that amniocentesis in HBsAg-positive women constitutes a low risk for the intrauterine transmission of the hepatitis B virus, but definite conclusions in HBeAg-positive women cannot be drawn.     

Fetal choroid plexus cysts and trisomy 18: Assessment of risk based on ultrasound findings and maternal age

This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as well as data from published series were used. It was calculated that the prevalence of CPCs in the general population is approximately 1 per cent and at mid-gestation the incidence of CPCs in fetuses with trisomy 18 is approximately 50 per cent. In the 387 fetuses with CPCs, the incidence of trisomy 18 increased with maternal age and the likelihood ratio for trisomy 18 increased with the number of additional abnormalities, from 0·03 for those with isolated CPCs to 0·4 if there was one additional abnormality and 20·5 if there were two or more additional abnormalities. It was concluded that if the cysts are apparently isolated, the risk for trisomy 18 is only marginally increased and maternal age should be the main factor in deciding whether or not to offer fetal karyotyping. If one additional abnormality is found, the maternal age-related risk is increased, so that even for a 20-year-old the risk for trisomy 18 is at least as high as the risk for trisomy 21 in a 35-year-old. In this respect, it may be considered desirable to offer such patients the option of karyotyping.     

Chorionic villus sampling and acceptance rate of prenatal diagnosis

In this paper, we compared the acceptance rate of fetal diagnosis for β-thalassemia in three group of couples of Sardinian descent; the first counselled before DNA analysis was available, the second presenting after DNA analysis was introduced but too late for chorionic villus sampling and thus monitored by amniocyte DNA analysis and the third presenting within the first trimester after DNA analysis was introduced and thus in time for trophoblast DNA analysis. A higher proportion of couples from the latter group opted for fetal testing as compared to the 1st and 2nd group. These results indicate that in this population, introduction of 1st trimester diagnosis made prenatal testing acceptable to practically all counselled couples at risk.     

Neutrophil and monocyte β2-integrin expression in trisomic fetuses

Flow cytometry was used to measure neutrophil and monocyte β2-integrin expression in fetuses with trisomy 18 (n=7) and trisomy 21 (n=7) at 20–25 weeks' gestation. The values were compared with those of 112 chromosomally normal fetuses. There were no significant differences in β2-integrin expression between normal and aneuploid fetuses. These findings demonstrate that in trisomies 21 and 18, alteration in β2-integrin expression is unlikely to contribute to the pathogenesis of immunological deficiencies that have been observed in these aneuploidies both prenatally and postnatally.     

Temporal trends in the sources of PCDD/Fs to and around the Venice Lagoon

Two salt marsh cores were collected from the Venice Lagoon, Italy, and analysed for PCDD/Fs. The samples were undisturbed and had an approximately constant accumulation rate. Radiochemical chronologies were established for the different core sections. The PCDD/F pattern in the surficial layers was very similar to that of atmospheric deposition measured in the same area. However, the pattern changed with increasing depth and was very different in the deeper sections, where the highest PCDD/F concentrations were measured. This layer was dated around the 1950s. Deeper layers have a profile similar to the surficial one. Undisturbed salt marsh cores appear to be a reliable tool for the reconstruction of temporal trends in the atmospheric deposition of persistent organic pollutants. It is proposed that the trends in the core reflect atmospheric deposition that probably results from the sum of two different contributions: emissions of the industrial district of Porto Marghera on the edge of the lagoon and the regional background.     

Nonylphenols in freshwaters of the hydrologic system of an Italian district: association with human activities and evaluation of human exposure

A sampling campaign for the determination of concentrations of nonylphenol isomers (NPs) in freshwaters and sediments of the hydrologic system of the Rieti district (central Italy) was conducted from 2002 to 2003. Eighteen sampling points, selected on the basis of the different human activities in the vicinity, were monitored; six series of water samples (from June 2002 to February 2003) and one of sediment samples (summer 2002) were analyzed by GC/MS.

There was a direct relationship between concentrations of NPs and the presence of urban or industrial activities near the sampling point. However, concentrations of NPs in water were in the range of <0.1–1.4 μg l⁻¹, and their presence limited to short distances from the sources of contamination. Accumulation factors in sediment samples ranged from 10² to 5 × 10³.