Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

UV-Filtersubstanzen in Wasser und Fischen

A method was developed for the analysis of fish samples to detect sunscreen agents (SSA) together with organochlorides (PCB, DDT) in different fish tissues. Detection limits of the compounds analyzed are in the range of ng/kg and vary between 40 and 90 ng/kg fillet. Recovery rates range from 78 to 104%. The contamination of water and fish with SSA in Meerfelder Maar lake, the Eifel, Germany was investigated in 1991 and 1993 and allowed the identification and quantification of six different SSA in the fish. The sum of SSA concentrations in perch taken in the summer of 1991 was 2.0 mg/kg lipid and 0.50 mg/kg lipid was found in roach sampled during the summer of 1993. Both species were contaminated with SSA and organochlorides to the same ranges as PCB and DDT. Even in the fillet of roach taken from three other lakes in Germany, methylbenzylidene camphor, a lipophilic SSA, was detected. These results indicate that SSA are wide-spread in German lakes. Therefore, they can be seen as a new group of relevant environmental chemicals. In the investigated lakes, the concentrations of the SSA in water were mostly below the detection limits. Thus, fish can be used as a biomonitor for these lipophilic compounds. Due to the lack of toxicological data for aquatic organisms, an ecotoxicological assessment is impossible at the moment.     

Epilithic Diatoms in an Alpine Lake (Traunsee,Austria) Affected by Soda and Salt Mining Industries

Traunsee, a 191 m deep Alpine lake in Austria, is affected by industrial tailings from the soda and salt mining industries since 1883. In 1998 littoral water chloride concentrations ranged between 40 and 85 mg L^-1 and the highest conductivity was 560 S cm^-1, which is almost double as high as the values reported from the two nearby reference lakes. Chloride concentrations increased towards the location of the industrial salt and soda emission into the lake. Analogously to the chloride gradient, the epilithic littoral diatom flora changes towards the waste inlet. Shifts in the species percentages towards the emission source, a high percentage of taxa with large conductivity tolerances, the presence of a small Achnanthes minutissima Kützing morphotype, and occurrences of taxa focused at habitats of higher electrolyte content, indicate subtle impacts on the epilithic diatom flora. An analysis of the seasonal succession of the epilithic diatoms at the waste inlet compared to a lake intern reference site, reveals that only during the late summer period in 1998 the diatom assemblage at the waste inlet became significantly different, indicating seasonally restricted effects of the industrial emissions.     

Preface

Water, Air, &; Soil Pollution: Focus -