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New genetic screening service offered to patients.


In September, UNC Maternal Fetal Medicine began offering the option of first trimester screening with Instant Risk Assessment to patients seen for first trimester screening at UNC Specialty Women’s Center at Rex and N.C. Women’s Hospital. This option allows patients to have blood collected through a finger stick or blood draw in their OB-GYN’s office between 9-12 weeks gestation. The patient is then scheduled to come to SWC at 12-14 weeks gestation for nuchal translucency ultrasound. Immediately following her ultrasound, the risk assessment is available and the chance for Down syndrome and trisomy 13/18 can be discussed with the patient.

A recent study by Fox, et al published in the American Journal of Perinatology has shown that patients who have first trimester screening through the instant risk assessment protocol have reduced anxiety, increased satisfaction, and increased understanding of their test results.1 We are also able to offer those patients who come back with an increased risk result same-day genetic counseling and in many cases same-day access to diagnostic testing.

If you would like to learn more about referring patients to SWC or NCWH for testing through this protocol, we would like to schedule a time for a genetic counselor to meet with your staff to review how to coordinate this testing. We will also continue to offer first trimester screening through the “traditional” pathway which involves patients coming to our office for counseling, ultrasound, and blood collection in a single day. If you have any questions, please feel free to contact Emily Hardisty, MS, CGC at 919-966-2229.

1Fox NS, Rebarber A, Klauser CK, Roman AS, Saltzman DH. First-trimester aneuploidy risk assessment: the impact of comprehensive counseling and same-day results on patient satisfaction, anxiety, and knowledge. Am J Perinatol, 2011, 28(1): 1 3-8