Genetic Testing
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Clinical Utility of Expanded Carrier Screening: Actionability and Outcomes

Obstetrics & Gynecology

This article describes the impact of ECS results on planned and actual pregnancy management in the largest sample of at-risk couples (ARCs) studied to date.

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The Impact of Molecular Testing and Therapy for Gynecologic Cancers in Low Resource Environments

Obstetrics & Gynecology

This study's aim is to demonstrate the impact of a universal molecular-based therapeutic program for gynecologic cancers in a low-resource environment.

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Impact of preimplantation genetic testing for aneuploidy on obstetrical practice

Current Opinion in Obstetrics and Gynecology

This review provides updated information on preimplantation genetic testing for aneuploidy (PGT-A), focusing on its implications on prenatal diagnostic approaches after transferal of mosaic aneuploid embryos. 

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A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels

Obstetrics & Gynecology

The American College of Obstetricians and Gynecologists (ACOG) proposed seven criteria for expanded carrier screening (ECS) panel design. To ensure that screening for a condition is sufficiently sensitive to identify carriers and reduce residual risk of non-carriers, one criterion requires a per-condition carrier rate greater than 1-in-100. 

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In pregnant women with a positive BUN screen or quad screen, does secondary screening with cell-free DNA reduce the incidence of invasive testing for fetal aneuploidy?

Evidence-Based Practice

A 2013 retrospective cohort study of 1,036 women with positive aneuploidy screening measured the use of noninvasive prenatal testing and the rate of invasive testing before and after the introduction of noninvasive prenatal testing

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