Introduction: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different.Areas Covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review.Expert Commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.

The first application of preimplantation genetic diagnosis (PGD) recently celebrated its 25 th birthday. Aside from the very early days when chromosomal diagnoses were used (by sexing) for the selective implantation of embryos unaffected by sex linked disorders, the paths of chromosomal and monogenic PGD have diverged. For monogenic disorders, progress has been impeded by the need to tailor each diagnosis to the mutation in question. For chromosomal diagnoses, fluorescent in situ hybridization (FISH) technology was replaced by array comparative genomic hybridization (aCGH), and then next generation sequencing (NGS). Karyomapping is a novel approach that allows the detection of the inheritance of (grand) parental haploblocks through the identification of inherited chromosomal segments. It involves genome-wide single nucleotide polymorphism (SNP) analysis of parental DNA, a reference from a related individual of known disease status (typically an affected child) and amplified DNA form biopsied cells of the (usually blastocyst) embryos in question. Identification of informative loci for each of four parental haplotypes is followed by direct comparison to the reference, ultimately creating a Karyomap. The Karyomapping programme (Illumina) displays homologous chromosomes, points of crossing over and the haplotype of each of the embryos. It also detects meiotic trisomy, monosomy, triploidy and uniparental heterodisomy (some of which NGS and aCGH will not). Inherent in the design is the analysis of "key SNPs" (heterozygous informative calls) thereby avoiding the risk of misdiagnoses caused by the phenomenon of allele drop out (ADO). Karyomapping is currently in use for the detection of monogenic disorders and around 1000 clinics offer it worldwide making use of about 20 diagnostic laboratories. At the time of writing, over two and a half thousand clinical cases have been performed. Because of the limited detection of some post-zygotic errors such as post-zygotic trisomy which can also lead to mosaicism, Karyomapping has not yet been fully applied clinically for aneuploidy screening. The diagnostic potential of the technique will be fully recognised with the application of this technology on clinical cases.

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INTRODUCTION: Decision counselling may prepare women for shared decision making about menopausal symptom treatment. METHODS: Women reporting menopausal vasomotor symptoms or genitourinary syndrome of menopause (GSM) were referred and consented. A nurse educator led a decision counselling session comprising review of an educational brochure and an online tool to clarify treatment preferences. Treatment options included non-hormone treatment vs. systemic hormones for vasomotor symptoms and non-hormone treatment vs. topical hormone treatment for GSM. Patients and their providers received a preference summary. Frequency of preferred treatments were calculated. An endpoint survey assessed participant perception of their preparation to discuss treatment options with their providers. RESULTS: A total 36 women with GSM (N=18) or vasomotor symptoms without a contraindication to systemic hormone therapy (N=18) completed a decision counseling session. Of these, 25 completed the endpoint survey. Among women with vasomotor symptoms, 6 (33%) preferred non-hormone treatment, 7 (39%) preferred hormone treatment, and 5 (28%) had an equal preference for these options. Among women with GSM, 6 (33%) preferred non-hormone treatment, 7 (39%) preferred topical hormone therapy, and 5 (28%) had an equal preference for these options. Ninety-six percent (24/25) felt the decision counseling session helped prepare them to discuss treatment options with their provider. CONCLUSION: After a decision counselling session, 72% percent of women with menopausal symptoms expressed a clear preference for a particular treatment and 96% felt more prepared to discuss treatment options with their provider. Decision counselling may add value to care of menopausal women. Further research should evaluate impact on the subsequent office visit.

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