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Prenat Diagn. 2017 Jan;37(1):37-42. doi: 10.1002/pd.4963. Epub 2016 Nov 29.

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.

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Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA.


With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from maternal FMR1 testing involves an intermediate allele, also known as a gray zone result, which requires genetic counseling but poses minimal risk for an adverse developmental outcome. By contrast, the finding of a maternal FMR1 premutation or full mutation during pregnancy has important implications for the woman herself, her unborn child, and her extended family. These multiple levels of impact, in addition to the complex inheritance pattern and variable expressivity of fragile X-associated disorders, cause significant stress for newly identified expectant couples and pose unique challenges for genetic counselors in the prenatal setting.

[Indexed for MEDLINE]

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