Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies.

Objective: To elucidate the tasks within various work settings that assisted reproductive technologies (ART) genetic counselors believe to be within their scope of practice.

Design: A survey was constructed and administered to genetic counselors who practice in the field of ART.

Setting: Genetic counselors were asked to self-identify with a primary ART work setting: genetic testing laboratory (preimplantation genetic testing, carrier screening, or both), in vitro fertilization clinic, gamete donor agency, telegenetic practice (either private practice or telemedicine company), or other.

Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion.

Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping.

Design: Performance evaluation of criteria developed to assess PGT-A results for patterns of imbalances suggestive of a balanced chromosomal rearrangement in the egg or sperm source.

Setting: A single PGT-A laboratory and multiple in vitro fertilization centers.

The chromatin remodeling factor Chd1l is required in the preimplantation embryo.

During preimplantation development, the embryo must establish totipotency and enact the earliest differentiation choices, processes that involve extensive chromatin modification. To identify novel developmental regulators, we screened for genes that are preferentially transcribed in the pluripotent inner cell mass (ICM) of the mouse blastocyst. Genes that encode chromatin remodeling factors were prominently represented in the ICM, including Chd1l, a member of the Snf2 gene family.