This guideline was prepared by the Turkish Society of Reproductive Medicine to define the conditions and requirements for an outsourced preimplantation genetic testing (PGT) programme in line with the experience and needs of practitioners. This guideline is intended to be a reference document for assisted reproductive technology centres, genetic diagnosis centres, non-governmental organizations working on reproductive health, legal experts, consultants working on laboratory accreditation, academicians specializing in ethical issues, and policy makers. The Consortium aims to provide recommendations addressing the challenges of genetic testing, especially PGT for monogenic diseases (PGT-M) due to the high rate of consanguineous marriage in Turkey. For this purpose, this summary document specifically includes challenges and recommendations regarding PGT-M practice, and aims to identify and aid in prevention of errors leading to misdiagnosis. The recommendations can be modified to fit other locations.
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http://dx.doi.org/10.1016/j.rbmo.2024.104378 | DOI Listing |
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology and Diabetes, Derince Research and Training Hospital, Kocaeli, Turkey.
Adrenal insufficiency (AI) is defined as the inability of the adrenal cortex to produce adequate amounts of glucocorticoids and/or mineralocorticoids. As these hormones have important roles in water-salt balance and energy homeostasis, AI is a serious and potentially life-threatening condition. Glucocorticoid replacement therapy is vital in all cases of AI.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone (ACTH) deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkiye.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21 hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFMov Disord
December 2024
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.
Objectives: This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.
Methods: Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.
Int J Hematol Oncol Stem Cell Res
October 2024
Department of Midwifery, Faculty of Health Sciences, Canakkale Onsekiz Mart University, Canakkale, Türkiye.
Hematopoietic stem cell transplantation is a life-saving treatment method for numerous diseases. This study aims to determine the knowledge and attitudes of Faculty of Health Sciences students in a university towards hematopoietic stem cell donation and descriptive cross-sectional design. The study participants consisted of students studying at the Faculty of Health Sciences of a university in western Turkey.
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