Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.     

Determination of neonicotinoids in Estonian honey by liquid chromatography–electrospray mass spectrometry

The aim of the study was to provide a comprehensive overview of neonicotinoid pesticide residues in honey samples for a single country and compare the results with the import data for neonicotinoid pesticides. The levels of four neonicotinoid pesticides, namely thiamethoxam, imidacloprid, acetamiprid, and thiacloprid, were determined in 294 honey samples harvested from 2005 to 2013 from more than 200 locations in Estonia. For the analyzed honey samples, 27% contained thiacloprid, and its levels in all cases were below the maximum residue level set by the European Union. The other neonicotinoids were not detected. The proportion of thiacloprid-positive samples for different years correlates well with the data on thiacloprid imports into Estonia, indicating that honey contamination with neonicotinoids can be estimated based on the import data.     

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.     

Major factors of industrial noise-induced hearing loss in Hong Kong

A tripartite participation of government, trade unions and university was formed in 1988 to study the situation of industrial noise and hearing acuity of workers. Since 1982, the six industries identified by the Noise Control Office were construction, electronics, metals, plastics, shipbuilding and repairing, and textiles. Safety-subcommittees were formed. With the help of these subcommittees, 21 out of 32 medium-size factories responded to the study. A total of 922 sound measurements were made and 1062 out of 10724 workers were examined. More than one third (37.5%) of workers worked in locations with noise level in excess of L _eq (8h) 90 dBA. Among examined subjects, 39.8% were exposed to L _eq (8) 90 dBA and above and 18.6% were found to have industrial hearing loss. Multiple logistic regression analyses adjusted for sex and age showed that for hearing loss, the important risk factors were duration of occupational noise exposure, noise intensity, floor vibration and military experience. Current legislation and measures in hearing conservation were inadequate despite the implementation of inspection by the Noise Control Office. Recommendations were directed at amending relevant legislation, increasing supervision of use of personal ear protection, and strengthening health education and audiometric surveillance of exposed workers.     

Cavum veli interpositi: prenatal diagnosis and postnatal outcome

We describe the finding of cavum veli interpositi (CVI) on fetal ultrasound and MRI and the postnatal MRI and developmental follow-up in two cases. The first case was diagnosed on fetal ultrasound at 33 weeks' gestation and confirmed on fetal MRI. No abnormalities were detected on postnatal examinations and the brain MRI at 1 year of age showed no changes. At 4 years of age, his growth and development were normal. The second case was diagnosed with CVI on fetal ultrasound and MRI at 33.5 weeks' gestation. Postnatal examination showed no abnormalities, and brain MRI at 8 months of age revealed that the CVI was unchanged, but there was a dilated cavum septum pellucidum and cavum vergae. Her growth and development during the first 4 years of life were normal. CVI is a rare fetal ultrasound finding, which seems to be benign. However, further neurodevelopmental follow-up is needed to confirm this observation. Copyright © 2005 John Wiley & Sons, Ltd.     

Multidimensionality of fear in captive greenfinches (Carduelis chloris)

Covariation of individual responses to different fear-eliciting situations is expected to manifest in general “fearfulness syndrome.” We tested for the existence of such a syndrome in wild-caught captive greenfinches. We assessed the propensity to give distress calls at handling, latency to feed at the presence of a predator image, and changes in locomotor activity in response to distress calls of conspecifics. Additionally, we measured the frequency of flapping flight movements against cage bars and tendency to damage tail feathers in captivity as indicators of the ability of birds to cope with captive conditions. As a proxy of neuroendocrine activity (an expected covariate of fearfulness), we measured the amount of stress hormone corticosterone deposited into feathers grown during captivity. All the behavioral traits were individually repeatable in time, but there were no correlations between them. Lack of the behavioral syndrome for fearfulness was also revealed by structural equation modelling. The findings of this experiment challenge the concept of a single internal variable responsible for fearfulness and support the proposed multidimensional nature of fear responses.