Preface

Water, Air, &; Soil Pollution: Focus -     

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd.     

Genetic Variation and Outcrossing Rate in Relation to Population Size in Gentiana pneumonanthe L

The amount of genetic variation in the rare perennial herb Gentiana pneumonanthe L. was determined to explore its relation to population size. Differences in isozyme variation between maternal plants and their offspring were used to investigate the relationship between population size and outcrossing rate. In 25 populations in The Netherlands, differing in size from 1 to more than 50,000 flowering individuals, 16 allozyme loci were analyzed on leaves of maternal plants and offspring grown in a greenhouse. Population size was significantly positively correlated with the proportion of polymorphic loci, but only marginally with heterozygosity and the mean effective number of alleles. Most of the studied populations were characterized by a complete absence of rare alleles, and F -statistics suggest relatively high levels of genetic differentiation among populations and thus a low level of gene flow. Leaf samples (maternal) were mostly in Hardy-Weinberg equilibrium, while several offspring samples showed an excess of homozygotes, which suggests selection favoring heterozygotes. Because most small populations consist only of adult survivors from formerly larger populations, this may partly explain the absence of a clear relationship between genetic variation of the maternal plants and population size. A significant positive correlation was found between the level of cross-fertilization and population size. From these results, we conclude that, to some degree, small populations have a reduced level of genetic variation, while their present isolation in nature reserves has resulted in a very limited interpopulational gene flow level. At present a higher level of inbreeding in small populations contributes to a further loss of genetic variation and may also result in reduced offspring fitness.     

Sonographic features of ileal duplication cyst at 12 weeks

Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We present the sonographic features of a fetus with ileal duplication cyst at 12 weeks of gestation, which show that the condition may present in the first trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

A fatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non-ketotic dicarboxylic aciduria. Cultured skin fibroblasts released ¹⁴CO₂ from [1–¹⁴C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.     

Book reviews

The Impact of English Towns P. J. Corfield

Oxford Paperbacks. O.U.P. 1982, 206 pp, £3.95 Bibliography, Maps, Graphs and Tables

Change in the City Centre

D. Sim

Gower, Aldershot 1982, £11.50, 124 pp.     

Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith–Wiedemann syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23(9) 2003, 771 Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith–Wiedemann syndrome. Prenatal and post-natal features and management of this very rare tumour are discussed. Molecular investigation disclosed a mosaic paternal 11p15 uniparental disomy in the tumoral cells. The prognosis of a congenital pancreatoblastoma is good if complete surgical excision is achieved. However, the association with Beckwith–Wiedemann syndrome requires a prolonged follow-up because of the increased risk of developing malignant tumours. Copyright © 2003 John Wiley & Sons, Ltd.