Familial Dysautonomia: Rare Disease or More Common than You Think?
ACOG ePoster. Bardos J. Apr 27, 2018; 211962; 20D
Jonah Bardos
Jonah Bardos
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Abstract
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Introduction: Familial Dysautonomia (FD) is an autosomal recessive disorder affecting the sensory and autonomic nervous systems causing life threatening autonomic crises, hypotonia, and progressive neuronal degeneration. Currently, carrier testing for FD is recommended for the Ashkenazi Jewish (AJ) population. A joint ACOG/ACMG statement highlighted the increasingly multi-ethnic society as consideration for pan-ethnic carrier testing, and recent ACOG committee opinion states that pan-ethnic carrier testing is a reasonable strategy. This study assesses how many non-AJ individuals screened positive for FD when pan-ethnic carrier screening was implemented.

Methods: Retrospective database analysis of individuals that received expanded carrier testing utilizing a genotyping panel for two pathologic variants of FD (c.2204+6TC, R696P) was performed. Expected number of positive carriers for FD in AJ and non-AJ groups were calculated and compared to observed rates. Chi-square analysis was performed to assess for statistical significance (p
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