Prenatal Diagnosis and Counseling

Advances in prenatal diagnosis strategies have resulted in increasing options for women to undergo evaluations of the health of the fetus at any time during pregnancy. Improved resolution in ultrasound and MRI has allowed for detailed anatomical visualization of complex birth defects. Concurrently, rapid advances in genomic technologies have broadened the possibilities of genetic diagnoses and prediction of prenatal developmental and disease progression. In addition, continued improvements in neonatal management of complex conditions have resulted in better prognoses for some conditions that historically would not have been viable. Consequently, the current process of prenatal diagnosis and counseling is complicated, covering not only diagnostic, treatment, and prognostic content for the fetus, but also the maternal obstetrical implications if fetal/neonatal outcome is optimized. Counseling of women with complex fetal defects now requires a multidisciplinary team who works together to provide information and assist in a decision making that reflects parental autonomy and balance between fetal/neonatal benefits and maternal risks. This chapter discusses the current strategies of prenatal diagnosis, the concepts in counseling, and the multidisciplinary team components of a prenatal diagnosis and fetal treatment program.