The guide is intended for specialists in obstetrics and gynecology, pediatricians, general practitioners, genetic counselors. It is also a useful aid for specialists and medical students, biologists and biochemists in genetics laboratories.
In the last two decades, the opportunities for accurate and high-quality prenatal diagnosis have increased worldwide. Collaboration between obstetrician-gynecologists, geneticists and biologists has increased the possibility of early, accurate diagnosis of a number of genetically determined abnormalities and diseases. Prenatal diagnosis through DNA testing made it possible to detect genetically determined diseases at the molecular genetic level. The technical and resolution capabilities of ultrasound examinations have also grown tremendously.
In this dynamic time, two specialists, Lyudmila Angelova and Borislav Kirchev, create an up-to-date practically oriented guide that focuses on genetic counseling, tracking reproductive options for the married couple, so that they can make an informed choice during pregnancy. The book "Practical Guide to Prenatal Diagnostics" deals with the preventive approach of prenatal examinations and the ways of diagnosing various types of congenital anomalies, hereditary metabolic disorders, autoimmune diseases, chromosomal diseases and genetic diseases, congenital infections. The various invasive approaches for obtaining biological material are considered - biopsy of the trophoblast, amniocentesis, taking blood from the fetus. Molecular-genetic, molecular-cytogenic, cytogenetic, immunological and other laboratory methods are described, as well as echographic, echocardiographic and other instrumental research techniques.
