Detection of fetal structural abnormalities at the 11–14 week ultrasound scan

The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11–14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11–14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11–14 week scan. Fetal structural abnormalities at the 11–14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd.     

Genetic profile of overweight and obese school-age children

Obesity is associated with overproduction of free radicals that promotes genotoxicity and could be measured as micronuclei (MN) and nuclear abnormalities (NA) in buccal mucosa cells. The frequency of MN and NA in buccal mucosa cells from overweight and obesity school-age children was determined. In a cross-sectional study, four anthropometric parameters were obtained from each child and one buccal mucosa sample was collected from each child. The slides were stained with orcein and fast green and microscopically analyzed for MN and NA. Twenty overweight and obesity school-age children (7–11 years old) from three schools located at the metropolitan area of Guadalajara were selected to form three groups with 20 children each, according to the weight features as follows: (1) normal weight; (2) overweight; and (3) obesity. No marked differences were found between groups for frequency of MN and NA. Genotoxicity, as indicated by increase in binucleated (BN) cells, was found in children within both overweight and obese groups exposed to passive tobacco smoke. There was no evidence of genetic instability in overweight and obese school-age children and no associations between body weight and genotoxicity markers found.     

Ecotoxicological assessment of metalworking fluids using the Allium cepa test procedure

Metalworking fluids (MWFs), which have a long history of use in industry and are in constant and ever-increasing use in parallel with advancements in mechanisation, are emulsions prepared with water. MWFs prepared as a 1/20 (MWF: water) mixture in practice, contain a large amount of water within their structure, and may become an aquatic toxic mixture in an ecosystem. In this study, half maximal effective concentration (EC₅₀) values for MWFs were determined using the Allium cepa test, an accepted ecotoxicological biomonitor, and test solutions were prepared (1/250, 1/500 and 1/1000). Depending on the MWF ratio at each concentration, a decrease in the mitotic index (MI), irregularities in the phase distribution and aberrations in the chromosomes were observed. When the amount of MWF in the water increased, chromosomal abnormalities such as stickiness were observed to occur; whereas abnormalities such as c-mitosis, fragments, bridges, vagrants and micronucleus increased as the amount of the MWF decreased. Over a second 24-h period, it was observed that values, in particular MI, showed a tendency to return to normal.     

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q. Copyright © 2003 John Wiley & Sons, Ltd.     

Preliminary investigation of the effects of dispersed Prudhoe Bay Crude Oil on developing topsmelt embryos, Atherinops affinis

Static exposure experiments were conducted to assess the toxicity of dispersed Prudhoe Bay Crude Oil (PBCO) to embryos of the topsmelt (Atherinops affinis). Treatment with the dispersant COREXIT 9500 resulted in greater hydrocarbon concentrations in chemically enhanced water-accommodated fractions (CEWAFs) of oil, relative to the untreated water-accommodated fractions (WAFs). Topsmelt embryo development and survival to hatching was significantly inhibited in CEWAF tests while minimal effects on embryo-larval survival were observed in WAF tests. Increased hydrocarbon concentrations in the CEWAF tests caused cardiovascular and other abnormalities in developing topsmelt embryos.     

A familial Xp+ chromosome detected during fetal karyotyping,which is associated with short stature in four generations of a Turkish family

The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed. Copyright © 2002 John Wiley & Sons, Ltd.     

Fetal fibrochondrogenesis at 26 weeks' gestation

An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination and histological study of fetal bones. Interwoven fibrous septa and fibroblastic degeneration of chondrocytes are pathognomonic. The recurrence rate is 25% and accurate diagnosis is necessary to enable genetic counselling. Copyright © 2002 John Wiley & Sons, Ltd.