Ann. Hum. Cmet. (1982), 46, 387-388 Printed an Great Britain

Review

387

Genetic Diseases in Pregnancy. Maternal Effects and Fetal Outcome. Edited by fJ. D. SCHULMAN

This book sets out to document the interactioq of the major groups of genetic disorder with pregnancy, not merely from the viewpoint of genetic counselling and prenatal diagnosis, but more particularly the effects of the disease on mother and fetus, and the more general aspects of management of the condition in pregnancy. Three groups, physicians, obstetricians and medical geneticists, should find it particularly useful, though perhaps for different reasons.

For the physician, this book will provide specific and detailed information on how a pregnancy will affect his patient, as well as on the genetic aspects with which he may well be unfamiliar. The obstetrician likewise will find guidance on management of pregnancy and should be alerted to any complications which the fetus may expect. Hopefully, the book should open the eyes of obstetricians to the range of genetic disorders that exists, and should encourage them to be more accurate diagnostically than is often the case. For the medical geneticist much of the information on genetic risks and prenatal diagnosis will already be familiar, but there will be a great deal that is unfamiliar, especially in terms of maternal problems, and which will be directly relevant to genetic counselling.

On the whole the book succeeds well in fulfilling its aims. However, there are some general criticisms. Firstly, many sections of the book devote too much space to a general review of the genetics of the particular field, repeating information already available in existing genetic texts. Long lists of various disorders likewise are of little relevance when there is nothing specifically related to pregnancy. Had this line been taken, most chapters would have been shortened considerably, some merged, or even omitted. Overlap is almost inevitable in a multi-author work, and occurs in this book, though not to a great extent. Myotonic dystrophy, for example, is covered in two successive chapters (neither deals adequately with the fetal and neonatal problems). A third criticism of many chapters is the lack of recent references - few are given after 1978, so that the applications of recombinant DNA technology and of recent ultrasound developments receive only brief mention.

Turning to individual chapters, the first, on metabolic disorders, contains valuable sections on maternal PKU and infertility in galactosaemia, but most notable is the lack of problems in most metabolic disorders for which data exist. An excellent chapter by Judith Hall on bone and connective tissue disorders follows, covering major obstetric problems, such as ruptured aorta in Marfan syndrome, but giving a clear review of different bone dysplasias. (Obstetricians diagnosing all short limbed dwarfism as achondroplasia please note !)

A strong haematological bias to .the book is given by the following three chapters on haemoglobinopathies, clotting disorders and blood group incompatibility. All are good, though perhaps giving rather too much detail. This criticism applies even more to the next thrce chapters on cardiovascular, respiratory and gastrointestinal disorders, which contain a great deal of irrelevant material and could be greatly shortened. For example, only one of the fir& 24 pages of the gastrointestinal chapter deals with a topic related to pregnancy, though later parts of this same chapter contain valuable information on inflammatory bowel disease and coeliac disease.

The chapter on psychiatric disorders proves to be perhaps the most interesting; not only does i t provide a good review of this difficult field in terms of genetic risks and effects on pregnancy, but it covers the broader aspects of the effects of illness on child-bearing and marriage in a thoughtful and sympathetic way that greatly enhances its value.

and J . L. SIMPSON. London: Academic Press. 1981. Pp. 493. f32.40. $55.00.

388 Review

In summary, this is a good book which makes a real contribution in covering fields omitted by most books dealing with genetic counselling or specific groups of genetic disorders. The criticisms given are minor in relation to the high overall standard, and there is no doubt that the book will fill a real need for the increasing number of people who are involved in one or another aspect of managing genetic disorders in pregnancy,

P . S. HARPER