Applications of molecular genetics technology for prenatal diagnosis of genetic disease

Information about the studies currently available and guidelines for identifying genetics resources, both clinical and laboratory, for provision of these services is provided. Rapid progress in the field of molecular genetics has provided increased opportunities for carrier and presymptomatic testing and prenatal diagnosis of numerous genetic diseases. The development of these diverse diagnostic services creates new challenges for clinical laboratory professionals who are likely to receive requests for these studies. Crucial decisions must be made in family identification for testing and in posttesting genetic counseling. Specific case examples are presented to illustrate the potential benefits and limitations of these studies. The molecular techniques currently available provide families with highly accurate information about their genetic risks.