The Prenatal Diagnosis of Hereditary Disorders

The author, from the Birth Defects and Genetic Clinic at Harvard, has addressed this book to those who may want to refer patients for prenatal diagnosis. The conditions for which prenatal diagnosis are possible, the dangers and limitations of the procedure, the interrelation with screening for heterozygous carriers of genes for recessive disorders, and the moral dilemmas posed are all well described. Technical details of clinical and laboratory procedures are not given. In order to justify writing a book rather than a paper the author has, perhaps, included unnecessary material. Accounts of the clinical features of the neurolipidoses and mucopolysaccharidoses, for example, are available elsewhere. Statements on the principles of genetic counselling are also available elsewhere. The ethical issues appear to be more straightforward in the more homogeneous British society than in the United States. The main difficulty in dealing with the situation in which, for example, an XYY fetus is found is that we do not yet know what prognosis to give the parents for the future child, and so cannot provide the information which they need in order to make a decision about termination themselves. The author includes some useful tables, for example of the conditions for which prenatal diagnosis has already been achieved, of those for which it is likely to be feasible with present techniques, and of the findings on amniocentesis so far in a number of co-operating centres in the United States. Overall the book is valuable and opportune, though it could perhaps have been pruned to half its length.