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For genetic counselors, critiquing and using published literature is crucial to staying at the top of practice, and the ability to critique and use review articles is no exception. Understanding distinct types of reviews and the questions they can answer is therefore an important skill for genetic counselors across practice specialties, professional roles, and experience levels. Additionally, knowing how distinct types of reviews are formally developed and written unlocks opportunities beyond traditional original research studies for genetic counselors to engage as authors in the rigorous academic work and publications needed in our profession. This article aims to help genetic counselors develop a functional understanding of three review types: systematic, scoping, and narrative. Considerations for interpreting and writing these types of reviews are provided, with resources that may serve as a starting point for those interested in going deeper.
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http://dx.doi.org/10.1002/jgc4.70106 | DOI Listing |
Front Genet
August 2025
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Objective: The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses at high risk for various conditions on chromosomal abnormalities.
Methods: In the study, 8,560 clinical samples were collected from pregnant women between February 2018 and June 2022, including 75 villus, 7,642 amniotic fluid, and 843 umbilical cord blood samples. All samples were screening for chromosomal abnormalities using both CMA and karyotyping.
Front Genet
August 2025
Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Background And Objective: Parental chromosomal structural variations (SVs) represent a primary genetic factor contributing to recurrent spontaneous abortion (RSA). Individuals carrying SVs with complex chromosomal rearrangements (CCRs) typically exhibit a normal phenotype but are at an increased risk of miscarriage. Current standard clinical detection methods are insufficient for the identification and interpretation of all SV types, particularly complex and occult SVs, thereby presenting a significant challenge for clinical genetic counseling.
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September 2025
Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
A 62-year-old female with retinitis pigmentosa presented for a low vision rehabilitation evaluation. An updated spectacle prescription, filters, and task lighting were beneficial, but the patient was left with outstanding needs. She noted that she had lost her independence and felt trapped within her own home with nobody around who could fully understand her situation.
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