Recent scientific advances in human genetics and prenatal diagnostic technologies challenge the counseling infrastructure of most obstetric services. In just the past several years, the American College of Obstetricians and Gynecologists has published guidelines on fragile X, spinal muscular atrophy, and cystic fibrosis screening, and new technologies including microarray analysis, cell-free fetal DNA, and carrier gene panels have become available. Obstetrics is at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Specific tests such as first- or second-trimester screening for aneuploidy are offered to virtually all women by a clinician who provides counseling and who may offer additional tests to patients in particular ethnic groups and those with unique obstetric or family histories. Frequently only this latter group and those who “screen positive” on the universally offered tests are sent to a genetic counselor. This approach worked well when screening focused on a relatively small number of diagnoses, but that is no longer the case. We argue that obstetricians, who were able to maintain mastery over the content of counseling when aneuploidies and karyotype analysis were the essential diagnoses and diagnostic tools available, are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases now diagnosable and the newest available diagnostic methodologies. Therefore, all women, not just those surpassing some poorly defined level of risk, deserve genetic counseling. Approaches for achieving this goal are discussed.
The rapidly increasing ability to diagnose genetic disease prenatally and the complexity of tools available suggest a need for universal access to genetic counseling.
Departments of Obstetrics and Gynecology, Maimonides Medical Center, SUNY Downstate, Brooklyn, and Columbia University Medical Center, College of Physicians and Surgeons, New York, New York.
Corresponding author: Howard Minkoff, MD, 967 48th Street, Brooklyn, NY 11219; e-mail: firstname.lastname@example.org.
Financial Disclosure The authors did not report any potential conflicts of interest.