An Introduction: Prenatal Screening, Diagnosis, and Treatment of Single Gene Disorders

Increasing ability to diagnose fetal single gene disorders has changed the prenatal diagnostic paradigm. As fetal sequencing advances, the genomic information obtained can lead to improved prognostic counseling, and elucidation of recurrence risk and future prenatal diagnosis options. For some of these disorders, postnatal molecular therapy, including gene therapy, is available or being studied in clinical trials. Most of the initial research and clinical trials have involved children and adults, but there are potential benefits to treating conditions before birth. Many clinical studies are underway exploring the potential for in utero gene therapy.