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.     

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.     

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.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

Planktonic bioluminescence in the pack ice and the marginal ice zone of the Beaufort Sea

An icebreaker cruise into the Beaufort Sea in the fall of 1986 provided a unique opportunity for studying planktonic bioluminescence in ice fields and in the marginal ice zone. Bathyphotometer casts (bioluminescence intensity, seawater temperature, beam attenuation coefficient, and salinity) and biological collections were made to a depth of 100 m. A light budget, which describes the planktonic species responsible for the measured bioluminescence, and a dinoflagellate species budget were constructed from the mean light output from luminescent plankton and plankton counts. The vertical distribution of bioluminescence among the ice stations was similar. The maximum intensities were 2 to 8×10⁶ photons s^-1 cm^-3 in the upper 50 m of the sea-ice interface. The marginal ice zone station (MIZ) exhibited a maximum intensity of 2 to 3×10⁸ photons s^-1 cm^-3 between 5 and 30 m depth. At Ice Station 2, Metridia longa and their nauplii contributed approximately 80% of stimulable bioluminescence in the upper 10 m but, overall, Protoperidinium spp. dinoflagellates contributed most of the light to a depth of 100 m. In the MIZ, Protoperidinium spp. dinoflagellates contributed 90% of the light within the upper 10 m, decreasing to 43% of the contributed light at a depth of 40 m. Below 40 m, dinoflagellate bioluminescence decreased to a few percent of the total to a depth of 90 m. Metridia spp. copepods contributed more than 50% of the light at depths from 40 to 90 m. Ostracods, larvaceans, and euphausiid furcilia contributed <1% of all bioluminescence at all depths sampled. Correlation analyses between measured bioluminescence (photons s^-1 cm^-3), the number of bioluminescent dinoflagellates and the light budget for the MIZ indicated highly significant associations: r=0.919, p=0.001, and r=0.912, p<0.001, respectively (Student's two-tailed t-tests). Bioluminescence was negatively correlated with seawater salinity at all stations (p=0.001). Maximum bioluminescence was measured in the less saline surface waters at all stations.     

Vertical profiles of bacterial abundance,productivity and growth rates in coastal sediments of the central Great Barrier Reef lagoon

Vertical patterns of bacterial densities, productivity and specific growth rates in coastal muds, quartz sands and muddy sands of the central Great Barrier Reef lagoon were examined in summer (February) and autumn (May) 1988. Variations in these parameters with station location, sediment depth and season were complex, exhibiting significant main and interaction effects in most instances. Some trends were apparent despite the large and complex variations. Bacterial densities did not vary seasonally, ranging from 2.9 to 38.1×10⁹ cells g^-1 dry wt, averaged over sediment depth (0 to 20 cm) and seasons. Trend analysis revealed that densities decreased with increasing sediment depth. Bacterial production (tritiated thymidine incorporation into DNA) was high, ranging from 0.4 to 5.7 gCm^-2 d^-1 (integrated over 10 cm depth), as were specific growth rates (grand mean, =0.25 d^-1; range=0.004 to 1.3 d^-1). Both were generally higher in summer than in autumn. Vertical profiles of productivity and specific growth rates revealed actively growing bacterial assemblages down to 20 cm depth. Factors which may account for these very abundant and productive communities are: (1) subsurface accumulations of detritus exported from adjacent mangrove forests, and (2) physical disturbance from tidal scouring and severe climate (e.g. cyclones, wet-season floods). Disturbance events occur frequently enough to inhibit the development of highly sulphidic conditions, but stimulate production of bacterial types (aerobes, fermenters) capable of incorporating labelled thymidine into their DNA.