Shortened fetal long bones: a possible in utero manifestation of placental function

Shortened fetal long bones (SFLB) are usually indicative of a skeletal dysplasia. Our aim in this observational retrospective study was to describe a new association between SFLB, small for gestational age (SGA) fetuses and placental abnormalities, and to suggest an aetiologic explanation. During the last decade we have evaluated nine cases in which SFLB (more than 2SD below the mean) was associated with SGA, abnormal maternal serum placental hormones and abnormal placental sonography. Six cases had significantly increased second trimester maternal serum βhCG and four developed toxaemia of pregnancy or had chronic hypertension. On histology, mature placentas with vascular abnormalities, including chorangiosis, large infarcts and slightly increased syncytial knots were noted. The combination of SFLB, SGA fetuses and placental abnormalities (sonographic, as well as histological) suggested a possible common pathway in the aetiology of this association. Copyright © 2002 John Wiley & Sons, Ltd.     

The nuchal translucency and the fetal heart: a literature review

In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease (CHD) with no particular bias for one form of CHD over another. This risk increases with increasing NT measurement. Although the NT measurement is only a modestly effective screening tool for all CHD when used alone, it may indeed be effective in identifying specific CHD “likely to benefit” from prenatal diagnosis. The combination of an increased NT, tricuspid regurgitation and an abnormal ductus venosus (DV) Doppler flow profile, is a strong marker for CHD. A fetal echocardiogram should be performed at 20 weeks' gestation in fetuses with an NT ≥ 95th percentile but < 99th percentile. When the NT measurement is ≥ 99th percentile, or when tricuspid regurgitation and/or an abnormal DV flow pattern is found along with the increased NT, an earlier echocardiogram is indicated, followed by a repeat scan at around 20 weeks' gestation. The resultant increased demand for early fetal echocardiography and sonographers with this special expertise needs to be planned and provided for. Copyright © 2009 John Wiley & Sons, Ltd.     

Genomic instability in the bank vole: Population-ecological aspects

Chromosome aberration frequency in relation to population dynamics and demographic parameters was studied for six years in a bank vole population in the Middle Urals. The frequencies of structural chromosome aberrations, chromatid gaps, aneuploidy, and polyploidy in males and females and in animals of different ages did not differ significantly. In the breeding period, the frequencies of structural aberrations and changes in chromosome number increased in the somatic cells of voles. Highly significant differences between the levels of chromosome instability in different years manifested a tendency toward a negative correlation with population size.     

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.     

Two unbalanced segregation products due to a maternal t(7;16)inv(16)

We report a prenatal case of a maternally inherited abnormal chromosome 16, originally interpreted as a pericentric inversion only, but after family studies re-interpreted as a pericentric inversion (16) accompanied by an unbalanced (7;16) translocation. Because of the inversion 16 and an elder son with developmental delay and craniofacial dysmorphic features, in the past karyotyped as 46,XY, the chromosomes 16 of the mother and son were carefully re-examined. Using a whole chromosome 16 paint and sub-telomere probes of 16p and 16q, the karyotype of the mother was shown to be 46,XX,inv(16)(p11.2q23.2).ish t(7;16)(q36;p13.3)inv(16). Subsequently one chromosome 16 of the elder son appeared to be a der(16)t(7;16)(q36;p13.3). This is probably the result of a meiotic crossover between the chromosomes 16 in the mother. The prenatal karyotype was finally interpreted as 46,XY,inv(16)(p11.2q23.2).ish der(16)t(7;16)(q36;p13.3)inv(16). This is the same cytogenetic imbalance as his elder brother: a partial trisomy of chromosome 7 (q36→qter) and a partial monosomy of chromosome 16 (p13.3→pter). Copyright © 2001 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.     

Assessment of micronuclei and chromosomal anomalies of five biocompatible materials in mice

In vivo genetic toxicology tests measure direct DNA damage or the formation of gene or chromosomal mutations, and are used to predict mutagenic and carcinogenic potential of compounds for regulatory purposes. These adverse genotoxic effects may be manifested in the form of gene mutations, structural chromosomal aberrations (CA), recombination, and numerical changes. The present investigation was carried to assess genotoxic effects of five different implantable biomaterials developed in different laborataries of Sree Chitra Tirunal Institute of Medical Sciences and Technology. All biomaterials were developed for clinical applications. CA and micronuclei (MN) studies are biomarkers of genotoxicity testing. Leachants from the extract of biomaterials are capable of inducing structural and numerical chromosomal changes. The studies were conducted in Swiss albino mice with the physiological saline extract of materials together with cyclophosphamide and physiological saline as positive and negative controls. Animals were administered intraperitoneally (ip) with a single injection of test, positive (cyclophosphamide), and negative (physiological saline) control and sacrificed after 24 or 48?h. Bone marrow cells were collected for CA and MN assays. Data showed that all five biomaterials did not significantly exert genotoxic effects. Hence, the study indicates that these biomaterials do not induce any chromosomal anomalies.