Genetics in prenatal diagnosis by Karen Mei Xian Lim, Aniza Puteri Mahyuddin, Arundhati Tushar Gosavi, Mahesh Choolani

“…Additionally, comprehensive pretest and posttest genetic counselling about the advantages, pitfalls and limitations of genetic testing should be provided to all women. …”
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Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

“…Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.…”
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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

“…This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.…”
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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis by F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers

“…Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. In addition, we discuss the diagnosis and treatment of LCD.…”
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Understanding cancer predisposition in Singapore: what’s next by Jianbang Chiang, Tarryn Shaw, Joanne Ngeow

“…These include the potential for finding unexpected germline variants through somatic tumour testing, optimal risk management of patients with hereditary conditions involving moderate-penetrance genes, role of polygenic risk score in an under-represented Asian population, management of variants of uncertain significance, clinical trials in patients with germline pathogenic variants and technology in genetic counselling. Addressing these barriers will aid the next step forward in precision medicine in Singapore. …”
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Xeroderma Pigmentosum: Man Deprived of His Right to Light by Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

“…T4N5 and photolyase liposomal lotions are innovations in the therapy of XP. Genetic counselling implicating the effect of consanguineous marriages should be considered in the management of XP patients.…”
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Genetics of Nonsyndromic Congenital Hearing Loss by Oguz Kadir Egilmez, M. Tayyar Kalcioglu

“…In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. …”
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Motion-Genetic Testing is Useful in the Diagnosis of Nonhereditary Pancreatic Conditions: Arguments Against the Motion by Jonathan A Cohn

“…Although CFTR and PSTI genetic testing can identify persons at an increased risk of pancreatitis, there are several reasons why the routine screening of individuals with nonhereditary pancreatitis is not recommended at this time: most disease-associated mutations are not detected by readily available techniques, genetic counselling guidelines do not exist, most patients with mutations do not develop pancreatitis and the results of testing do not affect the clinical management of pancreatitis.…”
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‘Why Don't We Get Counselling?’: Comparing NICE Guidelines for Morphological and Genetic Cancer Risk Diagnoses by Elspeth Davies

“…Lessons might be learnt from the field of genetic counselling.…”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.…”
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Sociodemographic and visual characteristics of individuals with oculocutaneous albinism in Botswana by Thanuja Panicker, Gopinath Madheswaran

“…Contribution: These findings can inform interventions for OCA in Botswana, such as vision rehabilitation programmes, social support initiatives, and genetic counselling services.…”
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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia by Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

“…The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.…”
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Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial by Mélanie Godiveau, Mélanie Godiveau, Mélanie Godiveau, Angeline Ginzac, Angeline Ginzac, Angeline Ginzac, Yannick Bidet, Yannick Bidet, Flora Ponelle-Chachuat, Flora Ponelle-Chachuat, Maud Privat, Maud Privat, Xavier Durando, Xavier Durando, Xavier Durando, Xavier Durando, Mathias Cavaillé, Mathias Cavaillé, Mathis Lepage, Mathis Lepage

“…No follow-up period is planned, but the duration of the genetic analyses is estimated at six months, with the final study report expected by October 2026.DiscussionThe identification of novel hereditary predisposition genes for UM could significantly enhance genetic counselling and surveillance strategies for families affected. …”
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The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

“…Conclusions: Molecular cytogenetic investigation for all suspected cases of TS should be considered for appropriate treatment plan and genetic counselling.…”
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Decision making biases in the allied health professions: A systematic scoping review. by Rebecca Featherston, Laura E Downie, Adam P Vogel, Karyn L Galvin

“…Of these, 119 studies came from the field of psychology, with substantially fewer from social work, physical and occupational therapy, speech pathology, audiology and genetic counselling. Diagnostic and assessment decisions were the most common decision types, with fewer studies assessing treatment, prognostic or other clinical decisions. …”
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Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever by Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly, Alain Chebly

“…Our data provide valuable insights into the genetic landscape of FMF in Lebanon and emphasize the importance of early genetic screening for a better disease management and genetic counselling.…”
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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…The option for NIPS is now preferred by most parents undergoing pre-conception genetic counselling and confirmed to be carriers for an autosomal recessive genetic disease. …”
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Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia by Jessica L. Sandy, Jessica L. Sandy, Jessica L. Sandy, Grant Betts, Jessica L. Harper, Suzanne M. Nevin, Suzanne M. Nevin, Suzanne M. Nevin, Rebecca Deans, Rebecca Deans, Rebecca Deans, Kristen A. Neville, Kristen A. Neville

“…Fourteen considered subsequent children and had directed genetic counselling. Eight decided to have additional children of whom seven agreed to participate. …”
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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.…”
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Estudio genético en adultos con glomeruloesclerosis focal y segmentaria by Melissa Pilco-Terán, Amir Shabaka, Mónica Furlano, Ana Tato Ribera, Isabel Galán Carrillo, Eduardo Gutiérrez, Roser Torra, Gema Fernández-Juárez

“…The prevalence of genetic FSGS is significant in children and considerable in adults, highlighting the importance of early diagnosis to avoid unnecessary treatments and facilitate genetic counselling. Massive sequencing techniques have revolutionized genetic diagnosis, allowing the identification of more than 60 genes responsible for podocyte damage. …”
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