Clinical integration of germline findings from a tumor testing precision medicine program by Maria Carolina Sanabria-Salas, Nina C. Anggala, Brittany Gillies, Kirsten M. Farncombe, Renee Hofstedter, Larissa Peck, Helia Purnaghshband, Laura Redondo, Emily Thain, Wei Xu, Peter Sabatini, Philippe L. Bedard, Raymond H. Kim

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Difficulty in genetic counseling of an asymptomatic carrier woman with a de novo 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A and recurrent 15q13.2q13.3 microdeletion in the fetus by Chih-Ping Chen

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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

Subjects: “…genetic counseling…”
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A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting by Robert Wallerstein, Andrea Jelks, Matthew J. Garabedian

“…We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. Study Design. …”
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Acceptability and Future Considerations for Telegenetic Counseling After the COVID Pandemic: Interviews with Genetic Counselors, Clinicians, and Patients by Meghan C. Martinez MPH, Nina Szwerinski MS, Su-Ying Liang PhD, Sharon Chan MPH, Monique de Bruin MD, Cheryl D. Stults PhD

“…Participants across all groups felt the style and content of the genetic counseling visit lent itself perfectly to telegenetics specifically because of no physical exam component. …”
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

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Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia by Semiha Kurt, Betul Cevik, Durdane Aksoy, E. Irmak Sahbaz, Aslı Gundogdu Eken, A. Nazli Basak

“…Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.…”
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Phenotypic and Allelic Distribution of the ABO and Rhesus Blood Groups among students at Hawassa University, Ethiopia by Mihret A. Hailu, Wendawek A. Mengesha, Zelalem G. Tolesa

“… A prior information on the distribution of ABO and Rh groups is important for management of blood bank and transfusion, genetic counseling, anthropological studies, to study the association of blood groups and diet; to investigate the association between blood and diseases. …”
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Phenotypic and Allelic Distribution of the ABO and Rhesus Blood Groups among students at Hawassa University, Ethiopia by Mihret A. Hailu, Wendawek A. Mengesha, Zelalem G. Tolesa

“… A prior information on the distribution of ABO and Rh groups is important for management of blood bank and transfusion, genetic counseling, anthropological studies, to study the association of blood groups and diet; to investigate the association between blood and diseases. …”
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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

“…After removing phenocopies/other confirmed unrelated diagnoses, 46 individuals were contacted either directly or through their healthcare provider for genetic counseling. Three patients had pretest genetic counseling and were tested for decreased levels of acid-α-glucosidase. …”
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

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SICKLE CELL TRAIT, CLINICAL MANIFESTATIONS AND OUTCOMES: A CROSS-SECTIONAL STUDY by Diego A Vargas-Hernández, Adriana Catalina Uscategui-Ruiz, Andrés Jesus Prada-Rueda, Consuelo Romero-Sánchez

“…Our results reflect the absence of redirection of these patients to genetic counseling.   …”
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Comprehensive analysis of a-and b-thalassemia genotypes and hematologic phenotypes by Heng Wang, Hai Huang, Yaping Chen, Xie Dan, Bangquan An, Shengwen Huang

“…A comprehensive understanding of the hematologic phenotype differences between different genotypes and subtypes of thalassemia can provide more accurate data for genetic counseling of thalassemia.…”
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Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases by Ho-Ming Luk

“…Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. …”
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Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria by Oladele Simeon Olatunya, Adefunke Olarinre Babatola, Ezra Olatunde Ogundare, Babatunde Ajayi Olofinbiyi, Olubunmi Adeola Lawal, Jacob Olumuyiwa Awoleke, Olusola Peter Aduloju, Alaba Olanrewaju Daramola, Eyitayo Ebenezer Emmanuel, Oyebanji Anthony Olajuyin, Akinwumi Kolawole Komolafe, Abiola Olukayode Olaleye

“…Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. …”
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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

“…The findings revealed important implications for genetic counseling, prenatal diagnosis, and targeted therapies in clinical practice.…”
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Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features by Sira Korpaisarn, Objoon Trachoo, Chutintorn Sriphrapradang

“…Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.…”
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A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

“…We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT.…”
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Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis by Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos

“…An accurate diagnosis may enable specialists to facilitate a significantly positive effect in the everyday life of a patient. Genetic counseling may also be recommended for these patients. …”
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