Early genetic amniocentesis and its relationship to respiratory difficulties in paediatric patients: A report of findings in patients and matched controls 3–5 years post-procedure

This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11–14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were found to have various respiratory difficulties, a morbidity rate comparable to that of paediatric patients in the general population. These data identify the need for larger, multicentre trials.     

A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes,identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.     

The ultrasonic detection of an isolated craniosynostosis

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.     

The association between ‘faint-positive’ amniotic fluid acetylcholinesterase and fetal malformations

The finding of a ‘faint-positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations.     

Prenatal molecular diagnosis of gaucher disease

Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available.     

Phenolic water pollutants in a Malaysian River basin

Phenolic chemicals with their very low taste and odour thresholds, high persistence and toxicity, are of growing concern as water pollutants. The compounds are known to exist in raw water as well as in treated water. The level of phenolic priority pollutants in water within the catchment area of the Linggi River Treatment Plant in Negeri Sembilan, Malaysia, which includes the Linggi river basin, was monitored. The 4-aminoantipyrin colourimetric method was used to determine total phenols whereas capillary column gas chromatography was used to determine the individual compounds. The results show that at most sampling stations, particularly those within the Seremban municipality, the level of phenols was found to exceed the recommended Malaysian standard of 2.0 g/L^-1 for raw water. This is seen as the direct impact of industrial and urbanization of the area and clearly indicates the unhealthy state of the Linggi river. The results also indicate the need to improve the water quality if the river is going to be used as a source of raw water.     

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.     

Prenatal ultrasound diagnosis of gastric outlet obstruction due to a pyloric web

Gastrointestinal tract atresia has an incidence of 1 in 10 000 live-births, while gastric outlet obstruction comprises only approximately 1 per cent of these malformations. A prenatally diagnosed case is described, followed by a discussion regarding the diagnosis and possible associated abnormalities.