Clinical Experience of Expanded Carrier Testing for Routine Preconception and Prenatal Care [10P]

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Expanded carrier testing is recognized by ACOG as an acceptable testing strategy in women’s healthcare. We report a large OB/GYN practice’s experience with expanded carrier testing including partner testing uptake and reproductive risk.


A retrospective analysis of expanded carrier testing ordered at a multi-provider clinic was performed. Data analyzed included patient demographics, testing outcomes, and reproductive risks.


Out of 537 female patients tested, 265 (49.3%) were positive; of those, 201 (75.8%) had partner testing. Fourteen (7.0%) couples were at risk to have a child affected with an autosomal recessive disorder (8 hemochromatosis, 3 familial Mediterranean fever, 1 PKU, 1 primary congenital glaucoma, 1 GJB2 non-syndromic hearing loss). Thirty women were carriers of an X-linked disorder (22 G6PD, 7 Fragile X premutation, and 1 GJB1-related Charcot-Marie Tooth disease). Incidentally, 10 patients were found who may have symptoms of a genetic condition based on their genotype (5 G6PD, 4 hemochromatosis, 1 carnitine palmitoyltransferase II deficiency), which could impact patient and pregnancy management.


Implementing an expanded carrier testing protocol including partner testing identifies carriers of many disorders and allows for reproductive risk identification. In this cohort, out of 537 patients who were tested, 43 (8.0%) were identified to have reproductive risk either due to an X-linked disorder or as carriers of the same autosomal recessive disorder. Risk identification empowers patients to make informed decisions with the guidance of their provider. This experience demonstrates the yield of expanded carrier testing when routine testing and partner follow-up is incorporated in a busy obstetrical practice.

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