Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series.

OBJECTIVE: To describe the experiences of three women with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) who desired to pursue planned oocyte cryopreservation. DESIGN: Case series. SETTING: An academic institution and a private clinic. PATIENTS: Three nulligravid women aged 23, 25, and 34 years who desired to pursue planned oocyte cryopreservation. Two women had BPES diagnosed when they were infants and one had BPES diagnosed after presenting to discuss oocyte cryopreservation. INTERVENTIONS: All three women underwent ovarian stimulation. One woman underwent three oocyte retrievals. MAIN OUTCOMES MEASURES: Vitrification of metaphase II oocytes. RESULTS: One woman had a total of eight metaphase II oocytes vitrified. In addition, she underwent genetic testing that confirmed type 1 BPES. The other two women, who had BPES diagnosed when they were newborns, each underwent two cycles of ovarian stimulation. Neither of these two women responded to ovarian stimulation and both cycles were cancelled before oocyte retrieval. CONCLUSIONS: BPES is a rare condition that can lead to primary ovarian insufficiency. Early identification of this condition is important to allow for timely reproductive counseling so that oocyte cryopreservation can be offered at a young age before oocyte depletion. Careful counseling is critical for these patients, because this case series demonstrated that not all women with BPES will respond to stimulation. Further, outcomes with cryopreserved oocytes have not yet been described in women with BPES.

OB/GYN residents' training, attitudes, and comfort level regarding genetics.

PURPOSE: While the availability, utility, and complexity of genetic testing expands, limited information exists regarding obstetrician-gynecologist (OB/GYN) residents' knowledge of genetics and confidence in providing genetic services. This study examined OB/GYN residents' educational and clinical experiences with genetics during residency, personal attitudes regarding the value of genetics and its role in their practice, level of comfort with genetic counseling, and potential motivators for learning about genetics. METHODS: Eligible participants included residents currently enrolled in a CREOG-associated OB/GYN training program in the USA or Canada. A link to an anonymous 49-question RedCap survey was emailed to program coordinators in October 2017 to be forwarded to all OB/GYN residents. RESULTS: Eighty-two OB/GYN residents representing all postgraduate years of training completed the survey. Residents indicated learning about genetics through discussions with attending physicians, lectures/courses, and publications. While residents felt their attendings valued (81%) and were knowledgeable about (85%) genetics, 28% felt their attendings did not reinforce concepts that were learned in coursework. Residents valued staying informed about the field of genetics and felt providing genetic services was within their scope of practice; however, there were deficiencies in self-reported comfort level, particularly regarding hereditary cancer counseling. Residents cited accessibility of information as a top motivator to stay informed. CONCLUSIONS: Clinically relevant, accessible didactic information about genetics reinforced in the clinical setting may increase residents' level of comfort with providing genetic services.

Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs.

PURPOSE: Although there is an anticipated need for more genetic counselors, little is known about limitations at the graduate training level. We evaluated opportunities for growth of the genetic counseling (GC) workforce by exploring program directors' perspectives on increasing number of graduate trainees. METHODS: Thirty US-based GC program directors (PDs) were recruited through the Association of Genetic Counseling Program Directors' listserv. Online surveys and semistructured phone interviews were used to explore factors impacting the expansion of the GC workforce. RESULTS: Twenty-five PDs completed the survey; 18 interviews were conducted. Seventy-three percent said they believe that the workforce is growing too slowly and the number of graduates should increase. Attitudes were mixed regarding whether the job market should be the main factor driving workforce expansion. Thematic analysis of transcripts identified barriers to program expansion in six categories: funding, accreditation requirements, clinical sites, faculty availability, applicant pool, and physical space. CONCLUSION: General consensus among participants indicates the importance of increasing the capacity of the GC workforce pipeline. Addressing funding issues, examining current accreditation requirements, and reevaluating current education models may be effective strategies to expanding GC program size. Future research on increasing the number of GC programs and a needs assessment for GC services are suggested.Genet Med 18 8, 842-849.