Prenatal diagnosis encompasses several disciplines: clinical and laboratory genetics, obstetrics and antenatal ultrasound, biochemistry, paediatrics, and fetal pathology. Those working in this area must be a ‘Jack of all trades’. They may well feel daunted at the rapid changes taking place, by the difficulties at communicating sometimes imprecise information, and helping families face very difficult decisions.

The stated aim of this book is to provide a basic practical introduction for the wide range of health professionals involved. With the very few reservations outlined below it fulfils this aim.

The principles of screening and prenatal maternal screening are covered comprehensively and very readably; I highly recommend this chapter. The role of ultrasound and the more common abnormalities detected are well covered to give an overview but not in enormous detail. The section on invasive procedures has concentrated too much on the actual technique for most, who will not turn to this text for advice on how to do a procedure. I take issue with the conclusion suggesting no association between chorion villus sampling and limb reduction defect at any gestation, because this is based on the work of one group and ignores the concerns raised by other groups throughout the world.

Laboratory investigation by cytogenetic and recombinant DNA technology are up to date, helpful and well covered. There is quite a lot of detail for those uninitiated in molecular matters. One or two errors—recurrence after the birth of a non-translocation Down’s syndrome child is not more likely if the mother was young (although the increase in risk is greater); a presumed misprint has led to an unfortunate sentence concerning chickenpox ‘fetal damage is rare and unpredictable and termination of pregnancy is recommended’. There is some imbalance in this book, in that more space is given to infection (in a very useful chapter) than structural abnormality, and there is a whole chapter devoted to osteogenesis imperfecta. This disease is used as a model to demonstrate the clinical genetics and prenatal diagnosis of this interesting group of collagen disorders.

A section is correctly given to ethical, educational, and counselling considerations. Inevitably any textbook on prenatal diagnosis will soon become out of date in some areas. However, this is a very useful and readable book and I would recommend it to anyone entering the field of prenatal diagnosis.