No abstract

During the 3 year time period, 870 unique patients completed at least one cycle of PGD testing for single gene disorders. Cases were characterized by the initial method of identification of the reproductive risk for the single gene disorder of interest. (personal/family history, standard routine carrier screening, or expanded carrier screening panels). Cases for which the initial ascertainment of risk for the single gene disorder was not able to be determined were excluded from analysis. RESULTS: Overall, the number of unique patients who completed PGD testing for single gene disorders increased from 246 to 330 from 2014 to 2016. Among these 869 cases, 538 couples were identified as at risk to have a child with a single gene disorder by family history of an affected individual, 85 by standard routine carrier screening as per ACOG/ACMG guidelines, and 160 by expanded carrier screening panels. 86 patients were excluded from e62