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. 2024 Nov;44(12):1470-1478.
doi: 10.1002/pd.6556. Epub 2024 Mar 18.

Uptake rate of carrier screening among consanguineous couples

Julianne Ricca  1   2 , Justin S Brandt  3 , Natalie Jacob  4 , Elena Ashkinadze  2   5
Affiliations

Uptake rate of carrier screening among consanguineous couples

Julianne Ricca et al. Prenat Diagn. 2024 Nov.

Abstract

Objective: To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples.

Methods: We performed a matched case control study of 82 consanguineous couples seen at Rutgers-Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment. A 2 × 2 contingency table analysis was used to compare rates of acceptance and declination between the consanguineous and non-consanguineous groups.

Results: The overall acceptance rate among consanguineous couples was 82.9%, whereas the overall acceptance rate among non-consanguineous couples was 56.1%. After statistical analysis, consanguineous couples were significantly more likely to accept CS as compared to non-consanguineous couples (OR = 3.801, 95% CI; p < 0.0001). We also report the carrier couple rates and individual carrier statistics between these two groups.

Conclusion: This study supports the idea that consanguineous couples are more likely to pursue CS and have a higher carrier couple yield.

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References

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