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Nonmelanocytic Lesions
Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Constanza Riquelme-Mc Loughlin, Daniel Morgado-Carrasco, Susana Puig, Cristina Carrera
Surgical removal of the tumor is the mainstay of management. In the presence of sebaceous adenomas and loss of MSH2/6/1 expression, it is incumbent to rule out mismatched repair genes, germline defects, and familial colorectal Lynch syndrome. If confirmed, referral for genetic counseling is recommended.
Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
A genetic evaluation and risk assessment aims to determine if there is a genetic cause of infertility and if there are any genetic risk factors that should be addressed at the pre-conception state. A medical, reproductive, and family history can be gathered to assess the partners in a couple for genetic conditions associated with infertility or other concerning genetic risk factors. For example, a personal and/or family history of recurrent miscarriage and/or a child born with a chromosomal imbalance or unspecified genetic disorder might warrant cytogenetic analysis to evaluate the partner concerned for the presence of a balanced translocation. The identification of a balanced translocation can explain the history of infertility and subsequently guide genetic testing for embryos through the IVF process. The family history is assessed for any symptoms which could underlie a heritable single-gene disorder for which PGT-M might be possible. Expanded carrier screening and PGT options can be reviewed. Genetic counseling can include the collection of such reproductive and family history, the interpretation of the family history, and the coordination of any necessary genetic testing.
Reproduction
Published in Gary Chan Kok Yew, Health Law and Medical Ethics in Singapore, 2020
The availability of genetic technology has brought about significant benefits to couples who desire to have children of their own. Genetic counselling plays an important complementary role. The BAC (2005) Report recommended that genetic counselling provide sufficient and unbiased information to enable full and informed choices to be exercised and appropriate support to the patient and family members.137 Notwithstanding, errors at the microscopic level can still happen and may amplify the adverse consequences for humans and the yet-to-be-born. We will consider the potential claims of parents and the child respectively against geneticists, embryologists and medical doctors amongst others in the tort of negligence primarily.
Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort
Published in Acta Oto-Laryngologica, 2023
Simon I. Angeli, Juan A. Chiossone K, Stefania Goncalves, Fred F. Telischi
Consensus is emerging regarding the surveillance of HNPGL. The minimum initial test battery for patients presenting with a GJ paraganglioma includes a comprehensive medical history including a family history of paragangliomas and related syndromes, complete physical examination including vital signs and evaluation of all cranial nerves, audiometry, anatomic imaging with CT/MRI, and PET/CT Gallium68 DOTATATE full body scintigraphy. This latter scan can confirm the diagnosis of paraganglioma and identify synchronous tumours and metastasis, while CT/MRI offers greater anatomy resolution to distinguish tumours from lymph nodes. Most GJ paragangliomas arise from parasympathetic paraganglia and do not hyper-secrete catecholamines, but initial biochemical screening with plasma or urinary metanephrines and its metabolites is recommended prior to any manipulation of the tumour (i.e. surgery, radiotherapy, and angiography), as this could result in a catecholamine storm. We recommend genetic screening as part of the initial management to all GJ patients with or without family history and, when pathogenic mutations are identified, we offer screening to first-degree relatives. Genetic counselling is offered in combination with genetic testing.
Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
Ashley Crook, Chris Jacobs, Toby Newton-John, Alison McEwen
As genotype-targeted therapy trials emerge for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), availability and interest in genetic testing will likely increase (1). Diagnostic testing is the initial genetic testing performed in families to search for a pathogenic variant (mutation). Diagnostic testing may occur as part of the process of confirming a clinical diagnosis of ALS/FTD in an individual, or later, after a clinical diagnosis is made to confirm whether a familial ALS/FTD pathogenic variant is present. Genetic counseling enables clients to make informed testing decisions while minimizing adverse outcomes and should accompany any genetic testing discussion. However, the amount of counseling required or recommended is unknown (2). We sought input from health professionals (HPs) and consumers to develop practice standards for genetic counseling when offering diagnostic testing for ALS and/or FTD.
Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family
Published in Journal of Obstetrics and Gynaecology, 2022
Qi Tian, Li-Li Xu, Dong-Zhi Li
When two or more affected offsprings are born to apparently unaffected parents, germline mosaicism is suspected; however, this event will usually be neglected when only one offspring has been affected (Mohrenweiser and Zingg 1995). The ignorance of germline mosaicism may lead to the recurrence of diseases, as evidenced by the present study. Paternal germline mosaicism can be diagnosed by molecular investigation of sperm DNA. Diagnosis of maternal germline mosaicism, however, is not feasible because oocytes cannot be obtained. The present study has important implications for genetic counselling. For apparently a de novo case of microduplication, the potential for recurrence in future pregnancies should be discussed. Considering the great economic and psychological pressure brought by the duplication in the present family, preimplantation genetic testing (PGT) was recommended for future pregnancies.