Fetal nuchal oedema and antenatal diagnosis of trisomy 10

Trisomy 10 was detected at amniocentesis undertaken following observation of fetal nuchal oedema. This is the first report of fetal trisomy 10 in association with nuchal oedema. The physical features of fetal trisomy 10 are described.     

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible using mutational analysis of the insulin receptor gene in DNA from amniotic cells.     

Towards informed decisions about prenatal testing: A review

There are now several well-documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality. Possible methods of improving informed decision-making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered.     

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.     

Early prenatal diagnosis of an infratentorial arachnoid cyst: Association with an unbalanced translocation

Arachnoid cysts are an uncommon central nervous system malformation, representing only 1 per cent of all intracranial masses. We report the second-trimester prenatal diagnosis of a posterior fossa arachnoid cyst, associated with an unbalanced X;9 translocation.