Purpose of review: Recent advances in genetic technology have substantial implications for prenatal screening and diagnostic testing. The past year has also seen important changes in recommendations surrounding the genetic counseling that occurs in the provision of such testing.
Recent findings: Multiple screening tests for single gene disorders, chromosomal abnormalities, and structural birth defects are now routinely offered to all pregnant women. Ethnicity-based screening for single gene disorders includes Tay Sachs disease, cystic fibrosis, and hemoglobinopathies. Recent discussions have involved, not only additional disorders that warrant screening, but a re-evaluation of the paradigm of selecting disorders for population-based screening. Testing for chromosomal abnormalities has seen the introduction of first-trimester screening, as well as strategies to improve detection through sequential testing. Changes in recommendations for screening compared with diagnostic testing, and a move away from maternal age-based dichotomizing of testing, have had major implications for provision of genetic counseling by providers of prenatal care.
Summary: Advances in genetic testing have resulted in tremendous benefits to patients, and challenges to providers. New approaches to education and counseling are needed to assure that all patients receive a complete and balanced review of their prenatal genetic-testing options.