CLINICAL IMPLICATIONS OF AN EXPANDED PAN-ETHNIC CARRIER SCREENING PANEL

Abstract

To describe what proportion of patients complete the recommended expanded carrier screening prior to initiating fertility treatment and what proportion of those patients had actionable screening results. This was a retrospective cohort study of all new patient visits from January to April 2016 where at least one partner underwent expanded pan-ethnic genetic carrier screening at our university affiliated center. The primary outcome of this study was the number of couples who completed screening prior to initiating fertility treatment. The secondary outcome was the number of actionable genetic disorders screened positive for individual patients and couples. A total of 1,320 new patient visits were screened for inclusion, of which 911 couples pursued fertility treatment at our center. Of the 911 couples, 648 (71.1%) couples completed screening where at least one partner was screened, and 263 (28.9%) couples declined or were not screened. Of those screened, 317 (49.0%) couples were screened together on the same day. For couples who were not screened together, the female partner was screened an average of 35.7 ± 131 days before their partner underwent screening. Of the 612 female partners who completed screening, 402 (65.7%) females screened positive for a genetic disorder. There were 31 couples where both partners screened positive for at least one actionable genetic disorder. Of these 31 couples, 12 pursued in-vitro fertilization (IVF) only, eight pursued IVF with preimplantation genetic testing for monogenic disorder, three pursued intrauterine insemination, two conceived spontaneously, one used an egg donor, one pursued ovulation induction, and six did not return for treatment at our center. Of the 457 females who became pregnant, 53 (11.6%) couples did not complete any screening before pregnancy. The findings of this descriptive study suggest that the majority of couples seeking fertility treatment completed the expanded pan-ethnic genetic carrier screening and many of these couples are screened before becoming pregnant, indicating that many couples are interested in knowing their risk of having a child with a genetic disorder. This expanded pan-ethnic carrier screening has a high positivity rate thus providing valuable information to help couples decide what type of fertility treatment to pursue.