Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: Prenatal diagnosis in chorionic villi and amniotic fluid

The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo-types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second-trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.     

Missed prenatal diagnosis of fragile-X syndrome

An account is given of a pregnancy in an obligatory carrier of the fragile-X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile-X chromosome. However, at 3 months of age he had 14 per cent of fragile-X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent.     

Microscale Spatial Variation in Forest Litter Phytotoxicity

The spatial variation (within a 100 × 100 m plot) in the pollution of forest litter with heavy metals (Cu, Cd, Pb, and Zn), its acidity, and phytotoxicity (measured by the results of the root test using seedlings from a genetically homogeneous sample of common dandelion (Taraxacum officinale s.l.) have been estimated. Forest litter has been sampled in three zones differing in the toxic impact of long-term polymetal pollution by emissions from a copper-smelting plant emissions in the Middle Urals. The phytotoxicity variation is maximum in a moderately polluted plot, where both very high and very low pollution levels were observed, which determines a substantially nonlinear dose–effect relationship. The litter phytotoxicity is mainly accounted for by exchangeable forms of metals. Biological testing of samples from the most polluted plot has demonstrated marked antagonism between heavy metals and acidity.     

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission

A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.     

Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a danish series

The investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. A11 were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered.     

DOCUMENTATION OF HIGH SUMMER FLOWS ON THE POTOMAC RIVER FROM THE WOOD ANATOMY OF ASH TREES1

ABSTRACT: Ash trees (Fraxinus americana L. and F. Pennsylvanica Marsh.) collected from the flood plain of the Potomac River near Washington, D.C., were studied for evidence of associations between known periods of above-average summer flows and changes in wood-growth anatomy. Concentric bands of latewood fibers with atypically large lumens and thin walls commonly developed in trees growing near the low-water channel. Discharge records indicate that roots of most trees with these “white rings” were flooded temporarily during the latewood-growth interval. Trees apparently were not damaged and a concomitant reduction of internal water stresses seems to have accelerated the rate of radial growth. The intra-ring position of anomalous fibers generally corresponded to the time of increased discharge within the estimated interval of latewood growth. Anomalous fibers occasionally formed in unflooded trees, but their position also coincided with episodes of increased discharge. The results of these studies may have applications for streamflow-reconstruction techniques where hydrologic data are incomplete or lacking.     

Detection and isolation of fetal cells from maternal blood using the flourescence-activated cell sorter (FACS)

The presence of fetal cells in the maternal circulation during pregnancy has been suggested by repeated observations of small numbers of cells containing Y chromatin or a Y chromosome in the blood of pregnant women. With the fluorescence-activitated cell sorter (FACS), we have used antibodies to a paternal cell surface (HLA) antigen, not present in the mother, to select fetal cells from the lymphocyte fractions of a series of maternal blood samples, collected as early as 15 weeks of gestation. These sorted cells have been examined for a second paternal genetic marker, Y chromatin. Y chromatin-containing cells were found among the sorted cells from prenatal maternal blood specimens in 8 pregnancies subsequently producing male infants whose lymphocytes reacted with the same antibodies to paternal antigen used for sorting with the FACS. In each of 17 pregnancies resulting in male infants who failed to inherit the antigen detected by the antibodies used for cell sorting, Y chromatin-containing cells were not found prenatally. The use of two paternal genetic markers, a cell surface antigen and nuclear Y chromatin, to identify fetal cells in maternal blood permits us to conclude that these cells are present in the mother's circulation, as early as 15 weeks gestation. Further development of the techniques reported here could lead to widespread screening of maternal blood samples during pregnancy for detection of fetal genetic abnormalities.     

Prenatal diagnosis of cystic fibrosis by methylumbelliferylguanidinobenzoate protease titration in amniotic fluid

Amniotic fluids were obtained from 19 mothers who had previously given birth to a child with cystic fibrosis. Measurement of methylumbelliferyl guanidinobenzoate (MUGB) reactive proteases suggested that all 19 would have unaffected babies. Amongst the first 10 cases to come to term there were 5 infants with cystic fibrosis. It is concluded that MUGB protease titration is not suitable for the early prenatal diagnosis of cystic fibrosis.