Evaluating for disparities in prenatal genetic counseling.

Background: Guidelines recommend that all pregnant women should be offered prenatal genetic counseling, which includes discussions of aneuploidy and carrier screening. Previous studies have demonstrated racial and ethnic disparities in the completion of prenatal genetic testing, but few studies have evaluated for disparities in the offering of these tests. Prenatal genetic screening is a covered provision of Colorado Medicaid. We hypothesized that in the absence of a financial barrier, disparities in prenatal genetic counseling would be eliminated.

Objective: To evaluate disparities in prenatal genetic counseling by directly assessing if patients received counseling at the time of their first prenatal visit.

Study Design: This retrospective cross-sectional study included patients presenting for their first prenatal visit at <20 weeks' gestation. Patients who completed prenatal genetic testing were classified as counseled, and the remaining patients' medical records were reviewed. Moreover, patients were divided into 2 groups based on their counseling status (yes or no), separately for aneuploidy and carrier screening.

Results: Of 1103 patients who met the inclusion criteria, 97.2% were counseled for aneuploidy screening, whereas 73.3% were counseled on carrier screening. For aneuploidy, younger age, Black race, a relationship status of single, and presentation at a later gestational age were associated with lack of aneuploidy counseling on univariate analysis. After multivariable analysis, only maternal age (odds ratio, 1.09; 95% confidence interval, 1.01-1.19) and gestational age (odds ratio, 0.84; 95% confidence interval, 0.76-0.93) were statistically significantly associated with aneuploidy counseling. Treatment by a physician care team, having a comorbidity score of ≥1, and presenting at a later gestational age were associated with not receiving carrier screening counseling (univariate analysis). Multivariable analysis indicated significant associations with gestational age (odds ratio, 0.90; 95% confidence interval, 0.86-0.94) and having a comorbidity (odds ratio, 0.72; 95% confidence interval, 0.55-0.94).

Conclusion: Prenatal genetic counseling was less likely to be provided to women who present for prenatal care at a later gestational age. This finding was of concern because women who are less privileged were more likely to present to prenatal care at a later gestational age. Providing access to early prenatal care and developing specialized care pathways for women entering prenatal care in the second trimester of pregnancy could address disparities in prenatal genetic counseling.