Experiences of reproductive genetic counselors with abortion regulations in Ohio.

Since 2010, Ohio legislators have passed more than 15 legislative changes related to abortion and abortion providers, and nine procedural abortion clinics have closed. We investigated reproductive genetic counselors' perceptions, attitudes and self-reported practices regarding Ohio's current and proposed abortion regulations. We conducted five focus groups and two telephone interviews in 2019-2020, with a total of 19 reproductive genetic counselors. Participants discussed difficulties keeping current on abortion legislation and clinics' and hospitals' policies, resulting in anticipatory anxiety and leading to additional work to discuss the laws with patients. Participants articulated that practices of reproductive genetic counseling-and patient advocacy-are impeded by the legislation. Genetic counselors perceive negative impacts on patients' autonomy, particularly reflective of healthcare disparities of marginalized groups, which may contribute to frustration and anger. Ultimately, the mental and emotional burden on genetic counselors created by abortion legislation contributes to compassion fatigue and burnout. Our findings show that Ohio's abortion regulations negatively impact reproductive genetic counselors and their relationships with their patients. Repealing existing abortion regulations and preventing future restrictive legislation may ameliorate the negative effects of regulations on reproductive genetic counselors and their patients. In the event that these laws remain, innovative communication tools and proactive professional society advocacy are potential means to mitigate the negative impact on reproductive genetic counselors.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies. We present the first report of prenatally diagnosed and molecularly confirmed Proteus syndrome. Prenatal imaging identified megalencephaly, brain and eye malformations, focal soft tissue enlargement, and ambiguous genitalia. Exome sequencing performed on cultured amniocytes demonstrated an AKT1 pathogenic variant consistent with Proteus syndrome, and postnatal examination confirmed the diagnosis. Postnatal Sanger sequencing could not identify the AKT1 pathogenic variant. This case underscores the importance of prenatal exome sequencing on cultured amniocytes for mosaic overgrowth disorders, as well as provides additional information on the prenatal phenotype of Proteus syndrome, and highlights the impact of prenatal diagnosis on postnatal management.