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This book by multiple authors has a huge remit of covering all aspects of genetic disease in the fetus, but inevitably concentrates chiefly on diagnosis, although aspects of prevention and management are included.
Introductory chapters deal with genetic counselling and its timing in relation to pregnancy and obtaining specimens by amniocentesis and chorionic villus biopsy. The technical procedures are discussed together with good reviews of safety and failure rates. Practical techniques of both cytogenetics and molecular genetics are outlined. There are several chapters about chromosome anomalies that may be detected at prenatal diagnosis. Helpful reviews of the prognostic outlook for various abnormalities are included, such as all the sex chromosome aneuploidies, de novo translocations, and marker chromosomes.
There are a number of chapters about specific groups of conditions, for example, cystic fibrosis, primary immune deficiencies, and fragile X syndrome, and an excellent one on haemoglobinopathies as well as several on different groups of metabolic disorders. There are not separate chapters on some groups of conditions, such as renal disorders or conditions of the eye and skin, but most of the relevant information can be found elsewhere in the book. The chapters are full but concise reviews of current practice, for example, the one on cystic fibrosis covers the molecular genetics, clinical aspects of the disease, prognosis, and management. There are also useful sections about congenital bilateral absence of the vas deferens, its relationship to cystic fibrosis, and information about the risks of cystic fibrosis when echogenic bowel is detected in pregnancy. The chapter about congenital adrenal hyperplasia contains a good summary of previous publications about management of at risk pregnancies with steroid therapy for mothers and a suggested protocol for management.
The book succeeds very well in being abreast of current developments in molecular genetics applicable to clinical practice. Overall, the referencing is recent with information on genes such as connexin 26 and its role in non-syndromic deafness from 1997 included.
There is a useful discussion of the role of ultrasound in genetic diagnosis. Anomalies that can be detected in a number of wide ranging conditions are well described. There is also help with fetal dysmorphology in the problem of identifying the underlying cause and prognosis from a series of anomalies detected on scans, although this can be very difficult.
There are useful discussions about screening in pregnancy for neural tube defects and for Down syndrome. The former chapter discusses amniocentesis for alphafetoprotein, which has largely been superseded by ultrasound, at least in the United Kingdom. There are a number of very interesting sections about promising new techniques in fetal medicine, such as nuclear magnetic resonance imaging of the fetus, preimplantation diagnosis, and using fetal cells in maternal circulation for diagnosis. There is a specific section about fetal therapy. A discussion about termination of pregnancy and obtaining samples for confirmation of diagnosis and further studies is informative. Informative and interesting chapters about medicolegal (US based) and ethical aspects of prenatal diagnosis complete a well rounded book.
The editor is to be congratulated on producing such a topical and full summary of current practice and future developments. This book would make a most useful addition to the libraries of both genetic and fetal medicine departments.