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.     

Variability in larval development of the tropical reef fish Pomacentrus amboinensis (Pomacentridae): the parental legacy

The effects of food availability, female size, and social interactions on the quality of Pomacentrus amboinensis larvae at hatching were examined using two field-based experiments. In Experiment 1, food availability and female size significantly influenced size, eye diameter and levels of yolk reserves of larvae at hatching. Small females (47 to 52 mm standard length, SL) whose diets were not supplemented, produced the longest larvae (3.0 ± 0.01 mm total length, TL) with the least yolk reserves (50.1 ± 1.04 μm²). Irrespective of female size, those that received additional food produced larvae with the largest yolk-sacs (large females: 87.60 ± 1.53 μm²; small females: 80.14 ± 1.24 μm²). In Experiment 2, interactions with conspecifics had a greater affect on the somatic development of larvae at hatching than food availability. Increased social interactions resulted in larvae that were ⋍3% longer, with 2% greater head depth, than larvae from females that spawned in isolation on the experimental reefs. Fed females produced larvae with ⋍20% more yolk than larvae from females whose diets were not supplemented. All three factors (food availability, female size, and intensity of social interactions) tested within these experiments vary spatially and temporally among reefs. There is the potential, therefore, for larvae at the onset of the planktonic stage to vary in quality, level of development, and probability of survival. Received: 12 August 1996 / Accepted: 26 August 1996     

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.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Paleoecology and dynamics of forest ecosystems in Central Evenkia during the past 2400 years

New data on the composition of surface assemblages of plant macroremains from soil and swamp samples have been obtained in the study of geomorphologically different localities in the middle reaches of the Nizhnyaya Tunguska River. The results of paleocarpological analysis of forest soil sections supported by relevant palynological and geochronological data are presented. Natural changes of the forest cover over the past 2400 years and quantitative characteristics of the paleoclimate during each stage are described.Translated from Ekologiya, No. 1, 2005, pp. 3–10.Original Russian Text Copyright © 2005 by Koshkarova, Koshkarov.     

Organochlorine residues in the avifauna of Tamil Nadu (Southeast coast of India)

Pollution due to persistent pesticides is not a regional but a global problem. Organochlorine pesticides are persistent chemicals, stored and accumulated in the tissues of a wide variety of invertebrates and vertebrates including marine species. In the present study the organochlorine residues HCHs, DDTs and PCBs were measured in different trophic groups of birds (scavengers, inland piscivores, coastal piscivores, insectivores, granivores and omnivores) collected from Tamil Nadu Coast, India. The residue accumulation as a function of sex did not depict distinct variation. However, females had lower residue levels than males in terms of their mean weight and feeding habits. A continuous monitoring programme is recommended to establish the studied organisms as indicator species.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.