The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California

Abstract

Purpose: Pregnant individuals are routinely advised to undergo genetic carrier screening, followed by carrier screening in the reproductive partner if the patient’s screen is positive. The objective of our study was to identify completion rates of and barriers to partner carrier screening or genetic testing. Methods: We conducted a retrospective cohort study examining the completion of indicated partner genetic screening or testing at the Los Angeles General Medical Center Genetics clinic from January 1, 2017, to October 31, 2022. We examined factors linked to completing partner genetic screening or testing, including sociodemographic factors for patients and their partners, testing indications, and pregnancy characteristics via bivariate analyses (eg, t test, χ2, and Fisher’s exact tests). Results: In this primarily low-income, publicly insured, Spanish-speaking population, we identified 98 pregnancies for which partner genetic screening or testing was indicated. Only 26.5% (n = 26) completed testing, which did not vary by indication, parental age, parental race, parity, or primary language. Completion of partner genetic screening or testing was significantly linked to earlier gestational age at referral for genetic counseling (19.1 versus 21.5 weeks, P = .006). In 4 cases, being unable to obtain partner test results led to invasive diagnostic testing of the pregnant patient. Conclusion: Less than one-third of pregnancies received indicated partner genetic screening or testing. Early referral to genetic counseling may improve partner testing completion rates, which could avoid invasive and unnecessary diagnostic testing in the pregnant patient.

Keywords

• Carrier screening
• Genetic counseling
• Genetic testing
• Insurance
• Reproductive partner