The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.

Larsen D1, Ma J1, Strassberg M1,2, Ramakrishnan R1, Van den Veyver I1,2,3.

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Abstract

OBJECTIVE:

To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling.

METHODS:

We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy-related factors.

RESULTS:

ECS was offered to 483 of 500 women and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (p≤0.001). For pregnant patients, the mean gestational age of those accepting ECS (12 weeks 3 days; n=146) was significantly lower than those declining (13 weeks 4 days; n=270; p≤0.001). The acceptance rates were 7/12 (58.3%, p=0.195) for Ashkenazi Jewish women, 12/41 (35.3%; p=0.186) for Asian women and 7/25 (28.0%; p=0.241) for women of mixed ethnicity.

CONCLUSIONS:

These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options.