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Practical implementation of ACOG and ACMG carrier screening guidelines at a single academic medical center

Prenatal Genetics
  • Primary Categories:
    • Prenatal Genetics
  • Secondary Categories:
    • Prenatal Genetics
Introduction:


The American College of Obstetrics and Gynecology and the American College of Medical Genetics and Genomics both recommend that all pregnant patients and those desiring pregnancy receive information on genetic carrier screening and its clinical relevance. Few studies have evaluated how often patients are offered or complete carrier screening in practice. We assessed factors that may contribute to the frequency at which aneuploidy screening and carrier screening were offered and accepted.





Methods:


This retrospective chart review examined the records of 600 patients who delivered at a single institution between July 2020 and June 2021. Patients included were 18 years or older, delivered a live neonate, and presented for prenatal care prior to 24 weeks gestation. The primary outcome was frequency of offering and accepting carrier versus aneuploidy screening. Secondary outcomes included patient demographics, obstetric history, and provider practices. Chi squared, McNemar’s and Fisher’s exact tests were used to compare groups.





Results:


Over one year, 1,960 patients delivered and 523 of the 600 randomly selected patients met all inclusion criteria. Carrier screening was offered to 71 patients and aneuploidy screening was offered to 502 patients (14% vs 96%, p < .001ψ). Twenty-four patients accepted carrier screening and 279 accepted aneuploidy screening. Patients of advanced maternal age were more likely to accept aneuploidy screening (67% vs 53%, p=0.03). Carrier screening was offered less frequently to Hispanic patients (2% vs 14%, p=0.02) and differed according to provider (p < .001, Table 1). Completion rates among those offered carrier screening were higher in nulliparous patients (56% vs 22%, p=0.01φ) and those with a positive genetic screening questionnaire (58% vs 22%, p=0.03φ).





Conclusion:


Carrier screening was offered significantly less frequently than aneuploidy screening. Rates of offering carrier screening differed based on patient ethnicity and provider practices. When offered, nulliparous patients and those with a positive genetic screen more frequently completed carrier screening. These findings demonstrate the practical application of ACOG and ACMG carrier screening guidelines and can direct future efforts to improve equitable care of patients presenting for preconception and/or prenatal appointments.





Agenda

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