Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.

PURPOSE: To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHODS: Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in their family with various inheritance traits-autosomal dominant (genes-ACTA2, HTT, KRT14), autosomal recessive (genes-ALOX12B, TPP1, GLB1) and X-linked (genes-MTM1, DMD). Whole genome amplification (WGA) for the day 5 embryo trophectoderm single biopsies was carried out by multiple displacement amplification (MDA) or polymerase chain reaction (PCR)-based technology OmniPlex and was used for direct (Sanger sequencing, fragment size analysis, SNaPshot) and indirect mutation assessment (STR marker haplotyping), and embryo aneuploidy testing by array comparative genome hybridization (aCGH). RESULTS: Family haplotyping revealed informative/semi-informative microsatellite markers for all clinical cases for all types of inheritance. Indirect testing gave a persuasive conclusion for all embryos assessed, which was confirmed through direct testing. The overall allele dropout (ADO) rate was higher for PCR-based WGA, and MDA shows a better genomic recovery scale. Five euploid embryos were subjected to elective single embryo transfer (eSET), which resulted in four clinical pregnancies and birth of two healthy children, which proved free of disease causative variants running in the family postnataly. CONCLUSIONS: A developed multifactor PGT protocol can be adapted and applied to virtually any genetic condition and is capable of improving single gene disorder preimplantation genetic testing in a patient-tailored manner thus increasing pregnancy rates, saving costs and increasing patient reliability.

Improving quality of psychiatric care in Latvia by measuring patient experiences.

In Latvia, as in many former Soviet Union countries, there used to be little priority given to systematic assessments of the quality of psychiatric care. Furthermore, using the experiences of patients as a measure of quality was unthinkable because psychiatric patients were seen as incapable of assessing quality of psychiatric services. Over the past few years, and facilitated by Latvia's progress along the route of Western democracy and participation in international organizations (EU, OECD), as well as funding support from the EU, several policy documents have been developed with the aim of improving healthcare quality. Simultaneously, several small-scale initiatives have emerged aiming at the promotion of quality of care, such as the quality award, and the quality comparison of psychiatric hospitals. Furthermore, the Psychiatric Inpatient Patient Experience Questionnaire for on-site measurement (PIPEQ-OS) has recently been adapted for use in Latvia. The first application of PIPEQ-OS in a psychiatric hospital in Riga reveals high patient responsiveness, interest and surprise about being asked to participate in the decision-making process regarding treatment and pharmaceutical choices. More widespread use of the PIPEQ-OS has considerable potential for (1) improving information about treatment shortcomings from the patients' perspective and (2) improving the treatment process by opening doors of cooperation with patients and changing deep-rooted paradigms.