Genetic Disorders and the Fetus:

The definitive reference work on prenatal diagnosis, Genetic Disorders and the Fetus is now available in a completely revised and updated fifth edition reflecting the most current advances in research, technology, and clinical care. Written by an international team of experts, the volume provides in-depth critical analysis of the latest work in prenatal diagnosis of genetic and other disorders. Topics include: fragile X syndrome, cystic fibrosis, neural tube defects, and hemoglobinopathies; the experience and techniques of amniocentesis, chorionic villus sampling, ultrasound, fetal blood sampling; abortion and fetal therapy; and medicolegal and ethical issues in prenatal diagnosis. The book describes the use of combined biochemical markers to screen for neural tube and chromosomal defects, presents the latest developments relating to testing fetal cells in the mother's blood, and reviews major advances in molecular genetics that permit prenatal carrier detection and presymptomatic and predictive testing. Much has changed since the publication of the fourth edition. The new technologies of fetal MRI, 3-D ultrasound, and real time PCR of fetal DNA in maternal circulation yield crucial information. While, integrated screening of data from the first and second trimesters coupled with ultrasound now produces a 94 percent detection rate.