A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

A stress-strain model to evaluate the forest situation in Germany and the state of the art of damage research

The situation and the latest findings of forest damage research in Germany are discussed. A newly developed concept for this research is described. This concept allows to identify the drawbacks of the recent damage research concept but also the integration of results compiled up to now. The importance for including natural occurring stress factors such as climate, soil conditions or local situation of individual species is outlined.     

Ecophysiological indicators of the state of animal populations exposed to damaging factors

Indices of abundance and reproduction rate are considered in some groups of aquatic and terrestrial vertebrates from the zones of technogenic disasters. Upon a critical population decline caused by external destructive factors, such as emissions of acute ecotoxicants, the ecophysiological and behavioral compensatory mechanisms are activated, which provide for restoration of the total population size to the optimum within a short period of time. Environmental pollution with substances disturbing the reproductive function has the gravest consequences for animals. In this case, population size may remain fairly high, and, therefore, the effect of enhanced reproduction as a response to population decline does not take place, which eventually leads to a gradual but irreversible destruction of the population. Pathologies of reproduction should be used as a criterion for assessing the state of animals in the zones of technogenic disasters.Translated from Ekologiya, No. 1, 2005, pp. 32–38.Original Russian Text Copyright © 2005 by Shilova, Shatunovskii.     

Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

Magnetic resonance image findings of placental lake: report of two cases

Two cases with a large cystic mass within the placenta are reported. By ultrasonography, it was found that both women had a subchorionic hypoechoic lesion (11.0 × 4.8 × 4.0 cm and 6.6 × 3.7 × 2.2 cm, respectively) at 24 and 35 weeks of gestation, respectively. In both cases, turbulent blood flow generated by a pulsatile jet flow (pulse rate; 40 to 60 beats per minute) into the cystic lesion seen on real-time imaging and lesions being low intensity on T1-weighted and isointensity on T2-weighted magnetic resonance image suggested that they contained fresh maternal blood. In both cases, the sonolucency of the lesions did not change until cesarean deliveries of females, both of whom were small-for-gestational-age infants (1940 g at 37 weeks and 2195 g at 37 weeks, respectively). Biochemical analysis of the fluid in the cystic lesion sampled during the cesarean section in the latter case confirmed that the fluid had originated from the maternal blood. These lesions histologically corresponded to large avillous areas surrounded by normal villi. Thus, a huge placental lake was diagnosed in both cases. Copyright © 2005 John Wiley & Sons, Ltd.