Prenatal Diagnosisof Genetic Disorders:Trials and Tribulations

Prenatal detection of genetic disorders by amnio-centesis in the second trimester of pregnancy, followed by studies of amniotic fluid cells, has added a new dimension to genetic counseling. This paper reviews the technique, indications, results, and complications, with emphasis on the problem of interpretation of results, particularly in the detection of fetuses with metabolic diseases. Additional Keyphrases amniocentesis #{149} karo-typing #{149} genetic counseling #{149} Tay-Sachs disease hexosaminidase #{149} cystic fibrosis #{149} melachromatic leukodystrophy #{149} cell culture #{149} Down’s syndrome Genetic counseling is a major and frustrating problem in medicine today. Patients have become more aware of the genetic aspects of many diseases