Clinical Experience of Expanded Carrier Testing for Routine Preconception and Prenatal Care
ACOG ePoster. Tschirgi M. Apr 27, 2018; 211525; 10P
Matt Tschirgi
Matt Tschirgi
Login now to access Regular content available to all registered users.

You may also access this content "anytime, anywhere" with the Free MULTILEARNING App for iOS and Android
Abstract
Rate & Comment (0)
Introduction: 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.

Methods: 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.

Results: 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.

Conclusion/Implications: 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.
    This eLearning portal is powered by:
    This eLearning portal is powered by MULTIEPORTAL
Anonymous User Privacy Preferences

Strictly Necessary Cookies (Always Active)

MULTILEARNING platforms and tools hereinafter referred as “MLG SOFTWARE” are provided to you as pure educational platforms/services requiring cookies to operate. In the case of the MLG SOFTWARE, cookies are essential for the Platform to function properly for the provision of education. If these cookies are disabled, a large subset of the functionality provided by the Platform will either be unavailable or cease to work as expected. The MLG SOFTWARE do not capture non-essential activities such as menu items and listings you click on or pages viewed.


Performance Cookies

Performance cookies are used to analyse how visitors use a website in order to provide a better user experience.


Save Settings