Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid.

Purpose: To investigate pregnancy outcomes resulting from transfer of embryos with non-mosaic (NM) segmental aneuploid (SA) results following preimplantation genetic testing for aneuploidy (PGT-A).

Methods: All patients who underwent frozen embryo transfer (FET) of at least one embryo with a NM-SA between March 2021 and April 2024 were retrospectively reviewed. Primary outcomes included live birth rate (LBR) and results of prenatal diagnosis.

Preimplantation genetic testing for monogenic disorders: clinical experience with BRCA1 and BRCA2 from 2010-2021.

Purpose: Our aim was to describe the reproductive decisions and outcomes of BRCA-positive patients who used preimplantation genetic testing for monogenic disorders (PGT-M).

Methods: We performed a retrospective case series of all PGT-M cycles for BRCA variants between 2010-2021 at a large urban academic fertility center. All patients who underwent ≥ 1 cycle of IVF with PGT-M for BRCA1 or BRCA2 were included.

Blinded rebiopsy and analysis of noneuploid embryos with 2 distinct preimplantation genetic testing platforms for aneuploidy.

Objective: To determine how often a noneuploid result from a single trophectoderm (TE) biopsy tested with the next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) is concordant with rebiopsies tested with a single-nucleotide polymorphism (SNP) array-based PGT-A platform.

Design: Blinded prospective cohort study.

Setting: University-affiliated fertility center.

Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy.

Objective: To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy.

Design: Analysis of data collected between 2017 and 2023.

Setting: Multicenter.

Evidence-based management of preimplantation chromosomal mosaicism: lessons from the clinic.

Mosaic results obtained through preimplantation genetic testing for aneuploidy pose ongoing challenges to clinical practice. Thorough genetic counseling for patients considering mosaic embryo transfer is consistently recommended by many best-practice statements, and providers are charged with the task of assessing and explaining potential prenatal, neonatal, and long-term risks. However, an increasing amount of outcome data from transferred embryos with mosaic results do not show any evidence of increased risk to ongoing pregnancies or newborns.

Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use.

Objective: To study how the attributes of mosaicism identified during preimplantation genetic testing for aneuploidy relate to clinical outcomes, in order to formulate a ranking system of mosaic embryos for intrauterine transfer.

Design: Compiled analysis.

Setting: Multi-center.

Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer.

We investigated clinical error rates with single thawed euploid embryo transfer (STEET) diagnosed by next generation sequencing (NGS) and array comparative genomic hybridization (aCGH). A total of 1997 STEET cycles after IVF with preimplantation genetic testing for aneuploidy (PGT-A) from 2010 to 2017 were identified; 1151 STEET cycles utilized NGS, and 846 STEET cycles utilized aCGH. Any abortions, spontaneous or elective, in which products of conception (POCs) were collected were reviewed.

Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics.

Purpose: To assess the experiences of two large fertility clinics in which embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M) were transferred upon patient request, in order to explore the nature of the conditions for which these requests have been made and review ethical considerations.

Methods: Retrospective review of previous embryo transfers at the NYU Langone Fertility Center and ORM Fertility was performed. Embryo transfers prior to May 2019 in which embryo biopsy and PGT-M occurred were reviewed, and transferred embryos that were positive for a monogenic disorder (excluding autosomal recessive carriers) were identified.

Adverse Events in Genetic Testing: The Fourth Case Series.

Purpose: In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly.

Methods: An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e.

Experiences and psychological outcomes of the oocyte donor: a survey of donors post-donation from one center.

Purpose: To assess the experiences and psychological outcomes of oocyte donors from one fertility center.

Methods: An anonymous survey was distributed via a secure email to 161 donors who underwent oocyte donation-anonymous, directed/known, and recruited agency-between January 2008 and January 2019 at the NYU Langone Fertility Center.

Results: Thirty-six donors completed the survey with the majority between 2 and 10 years since donation.

What are patients doing with their mosaic embryos? Decision making after genetic counseling.

Objective: To assess patient decisions regarding mosaic embryos and their impact on clinical outcomes.

Design: Review of patients who had genetic counseling regarding mosaic embryos.

Setting: Academic department.

Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos.

Diagnosis and clinical management of embryonic mosaicism.

Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births.

Factors affecting recall of different types of personal genetic information about Alzheimer's disease risk: the REVEAL study.

Methods: Data were obtained through a multisite clinical trial in which different types of genetic risk-related information were disclosed to individuals (n = 246) seeking a risk assessment for Alzheimer's disease.

Results: Six weeks after disclosure, 83% of participants correctly recalled the number of risk-increasing APOE alleles they possessed, and 74% correctly recalled their APOE genotype. While 84% of participants recalled their lifetime risk estimate to within 5 percentage points, only 51% correctly recalled their lifetime risk estimate exactly.