Selected e-Posters

e-Poster No. Abstract Title Author Name
002 "Formulation of in-lab cut-offs for the diagnosis of mosaicism for monosomy X on interphase FISH on 500 cells" Abna. A
005 Nagers syndrome -A rare case report Shivani Awari
0014 Premutation FXS screening of behavioural phenotype and occupational therapy intervention Apoorva Srivastava
0015 "MOLECULAR ANALYSIS OF SUPERNUMERARY MARKER CHROMOSOMES IN TURNER SYNDROME" Soumya Raj
0017 Investigation of subtelomeric rearrangements in non-syndromic intellectual disabilities by Multiplex Ligation-dependent Probe Amplification: Implications for genetic counseling Habiba Sadiqha.A.N
0024 Illustrative case studies in the use of fetal exome sequencing in prenatal diagnosis Dhwani J. Parmar
0025 "Genetic Assessment of Hereditary Breast and Ovarian Cancer Syndrome in the Era of Next- Generation Sequencing" Jeffy Joseph
0026 prenatal detected chromosome translocations - experience in three families Gayathri K
0030 Genomic Sequencing guide in diagnosing a DADA2 (Deficiency of Adenosine Deaminase 2) Balakrishnan Arivalagan
0031 "Association of MTHFR gene polymorphisms with vitamin B12 deficiency and adverse maternal and neonatal outcomes among pregnant women of rural South India." Anitha Barney
0036 Multifactorial Approach to Develop Predicitive Marker for Knee Osteoarthritis Puneetpal Singh
0037 A diagnostic dilemma in a suspected case of Rett's Syndrome Tanmaya D
0038 Challenges of prenatal screening: a case report Dr Geetika Garg
0040 Molecular Diagnosis of genetic disorders – Right test selection, test review and guidance Tavisha Dama
0041 "A de-novo missense mutation (c.226C>A) in HMG box SRY gene in 46,XY sex reversal married female: A case study" Dr. Prafulla S. Ambulkar
0049 "Genetic testing, when is it warranted? – The role of genetic counselors in providing informed choices" Brinda Ramanathan
0050 G-protein coupled receptors in developmental language disorder Rahna Parakkal
0052 Genetic Counselor - The Versatile Advisor Dr Jyoti Bajpai Dikshit
0054 Deletion X(q22.1) in a case of Premature Ovarian Failure with homozygous Fragile-X repeats. Arundhati Athalye
0055 "A case of Recurrent Meckel-Gruber syndrome clinched with pointers from history and imaging" Dr Suchandana Dasgupta
0057 NOVEL β-THALASSEMIA VARIANT UNVEILED ! Dr. Shivaani Arora
0058 "Pre test and post test genetic counseling in decision making with rare coexisting rearrangements in conventional cytogenetics." Dr Amisha Shah
0062 Impaired T-cell receptor signaling in autism spectrum disorders Muhasin
0073 Genetic Counselling - at the Right Time for the Right Test Shreshtha Bhattacharya
0077 "Importance of genetic counselling while offering Non-Invasive Prenatal Testing – Case report" Angela Devanboo
0084 IMPORTANCE OF PRE TEST COUNSELING IN TAKING INFORMED DECISIONS Venkatesh Pochaboina
0090 "Microsatellite instability (MSI) testing for patients with colorectal cancer: Quality Improvement Project." Ramprasad Prakash Rajebhosale
00101 GENETIC ASPECTS OF DISORDERS OF SEX DEVELOPMENT G.Bhavani
00103 "Case-control genotyping and analysis of genomic data reveal that the c.788C>T variant in TGFB1 gene is not associated with otosclerosis but polymorphic in Indian population." Deepa Kale
00106 "Challenges in choosing the right genetic tests in this genomics era: Three Pediatric Case reports of Rare diseases" Rekha S
00110 "Comparative Analysis of Next Generation Sequencing Screening and Array Comparative Genomic Hybridization Screening in Preimplantation Genetic Testing for Aneuploidy" Harini Vilraj
00112 A case of undiagnosed jaundice- RBC, liver or gene who is the culprit? Dr. Richa Juneja
00121 IMPACT OF NONINVASIVE PRENATAL TESTING ON GENETIC COUNSELING FOR TRISOMY 21 George Stratoudakis
00122 Significance of chromosomal analysis in prenatal diagnosis Sujithra Appavu
00123 PATIENT MANAGEMENT WITH NON-INVASIVE PRENATAL SCREENING RESULTS George Stratoudakis
00136 Absent /hypoplastic nasal bone: Down’s syndrome or beyond!!! Dr Kalika Dubey
e-Poster No. Abstract Title Author Name
009 "Network analysis of sebaceous gland carcinoma using innovative bioinformatics tools to identify potentially actionable genes for advancement in healthcare." Chitra
0020 "Identification and Scrutinization of the Differentially Expressed Genes common to Eyelid and Non-Ocular Basal Cell Carcinoma to understand the Genomics of BCC" Shefali Dahiya
0032 Role of Genetic Counselling in Adolescent Idiopathic Scoliosis in India Hemender Singh
0039 "Dominantly Inherited type of Wolfram Syndrome Type 1- A rare occurrence diagnosed by Whole Exome Sequencing" Aayushi Gupta
0044 Whole exome sequencing implicates major histocompatibility class I in polymicrogyria Jesmy James
0047 Genetic Counseling for Mitochondrial Disorders- Metabolomic Approach Anuradha Yadav
0070 "Twinning of Bioinformatics and Genomics as a resort for Genetic Counselors to study the trends of Inheritable Ocular Melanoma" Pranjal Vats
00116 "IFITM3 Gene Polymorphism in Assessing Viral Disease Outcome in Covid-19 Positive Individuals" Khyati Arora
00131 "Anthropometrical studies Predict Chromosomal Anomalies and Poorer Semen Quality in Male Population of India" Dr. Gresh Chander
e-Poster No. Abstract Title Author Name
004 Role of Genetic Counselor in Families with Long QT Syndromes Bijal Vyas
0011 Lethal Osteogenesis Imperfacta type VIII : Recurrence in an Indian family Manisha Goyal
0012 "Role of genetic counselling in AZFc deletion associated with male infertility – a case report" Justin Margret Jeffrey
0016 "Negotiating Desires and Options: How Mothers Who Are X-linked Carriers Experience Reproductive Decisions" Aparajita. S
0023 Prenatal genetic counselling and testing_ A perspective from Dr Nandini Annamalai
0028 Dilemma in Pre-conceptional Counselling: Case Report Sherrin T Alex
0034 Ethical Dilemmas in Prenatal Genetic Testing and Counselling Dr Rahul Anand Kanakasabapathy
0035 A Rare Case of Craniofacial Anamolies for Preconceptional Counselling Dr.Geetha Krishnamoorthy
0042 Rothmund Thomson syndrome presenting as cow’s milk protein allergy Roma Kumari
0046 "The challenges faced in genetic counselling of families with variants of uncertain significance" Deepika Karthik Kumar
0048 Difficult to Relax, Difficult to Forget : SCHWARTZ JAMPEL SYNDROME Rhythm Arora
0051 Tackling grey zones: next generation sequencing needs next generation counseling Dr Shruti Bajaj
0056 "Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in Pakistan" Amna Hanif
0059 Ending the diagnostic odyssey timeline with the genomic testing Sugirdhana Parthiban Ramsait
0060 Usher Syndrome: Genetic Counseling in the Genomic Era Swathi Sampath Kumar
0063 "Comparative case studies highlighting fruitful intervention of genetic counseling to aid autonomy and take informed decisions" Sreelakshmi Pradeep
0065 A Case: Bardet Biedl Syndrome 10 Shivani Sankhyan
0067 Common mutations on prenatal testing in fetuses of Thalassemia carrier couples Dr K. Sravani Reddy
0071 "Sudden unexplained death in childhood (SUDC) in 3 sibs: a ray of hope with preimplantation genetic testing." Dhanashree Warang
0074 "Exome sequencing revealed a rare missense variant in LOXHD1 gene in an assortative mating HI family - a case report" Mathuravalli Krishnamoorthy
0075 A Tale to Conquer the HLA Complication Shreshtha Bhattacharya
0076 “Genomic & Genetic Counseling in Cervical Cancer― Ms.Akshata Karekar
0080 Genetic Counseling for Congenital Heart Disease in Prenatal Genomic Era Usha Dave
0082 Di George syndrome in Indian patients –Clinical features and Genetic Counselling Chakshu Chaudhry
0083 "Preimplantation Genetic Diagnosis as a Potential Tool for the Detection of Inherited Alzheimer’s and Huntington’s Neurodegenerative disorders" Pooja Praveen Kumar
0089 "Change in occurrence and recurrence from clinically Osteogenesis Imperfecta to Mucolipidosis - Pre and Post test Genetic counseling" Vishalakshi
0091 Ultrasonographic Soft Markers of Aneuploidy in Second Trimester: Are We Lost? Dr. Shreya Das
0092 "Genetic counselors as champions of families in the genomic era- JOUBERT SYNDROME- 15- A Case Report" Mr. Nadir Aman
0096 WILLIAM BEUREN SYNDROME: A rare condition of extraordinary love, bizarre challenges Rohit Bansal
0098 Genetic Counselling model for Cleft Lip and Cleft Palate Patients and Their Families Dr Vidya Cs
00100 Tay Sachs: A lysosomal storage disease Kavita
00102 Genetic counselling of couple with Griscelli syndrome Rachana Maragani
00104 Case Report --- Genetic Counselling for Hereditary Cancer syndrome Dr Jyotshna Palgamkar
00105 A rare case of renal tubular acidosis for genetic counselling Dr Saranya
00113 "Moleular Cytogenetics in the Accurate Diagnosis of Unbalanced Translocation Mediated Male Infertility" B.Flora Bai
00114 CASE SERIES: PREVENTION OF HEMOPHILIA BY GENETIC COUNSELLING Dr Priyanka Indoria
00115 "CASE REPORT: COMBINED CLOTTING FACTORS V AND VIII DEFICIENCY- A RARE INHERITED BLEEDING DISORDER" Dr Sri Devi R
00117 Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia- CES– A diagnostic tool Shivanjali Kapse
00118 "IMPORTANCE OF PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDES (PGT-A) IN CASES PRIMARILY FOR MONOGENIC DISORDERS (PGT-M)" Mr. Prashant Padyal
00119 Multisystem involvement in Von Hippel Lindau syndrome- A case report Ashu Soni
00124 Role of Genetic Counsellors in Cancer Care Niby J Elackatt
00125 Prenatal diagnosis of Triple X syndrome: Expect the Unexpected ! Latika Chawla
00126 Cascade Screening in X-linked Genetic Condition – Duchenne Muscular Dystrophy (DMD) Dr. Mary Shoba Das, C
00129 Patient Centered Prenatal Genetic Counselling- Are Obstetricians alligned enough? Dr. Charu Sharma
00132 Genetic counselors as champions of families in carcinoma breast patients Prachi Kalra
00133 "GENETIC COUNSELOR - A crucial guide to prevent RECURRING GENETIC DISORDER IN A FAMILY" Subhashini R A
00134 "Genetic Counseling and its importance in diagnosis and prevention of Duchenne Muscular Dystrophy (DMD) culminating the diagnostic odyssey of a single family with multiple affected males" Sharath Krishnan P V
00135 Importance of genetic counselling in averting hereditary hearing loss – a case report Dr. Pavithra Amritkumar
e-Poster No. Abstract Title Author Name
0013 Genetic Counsellors- Rainbows of the society Lavanya Botcha
0018 A cross-sectional survey to assess the knowledge, attitude and practices towards genetic disorders and testing among non geneticist clinicians of Indian Armed Forces. Lakshita Chauhan
0019 Consideration in genetic councelling of disorders of sex development: our experience Hriddhi And Joanna
0029 Perception of the Genetic Counseling Profession by the Indian Population Anusha Kolanchery Sabu
0053 Ophthalmic Genetics - The importance of post-test genetic counseling. Shubham Agrawal
0064 "Role of Genetic Counselling in High-Risk Results in Non-Invasive Prenatal Test and its Impact on Medical Termination of Pregnancy" Shweta Mahalingam
0072 Importance of genetic counselling in medical curriculum Dr. Nirali Desai
0079 "IMPORTANCE OF GENETIC COUNSELLING IN FAMILIAL MICRODELETION SYNDROME-DI- GEORGE -A CASE REPORT" Jincy Mariam Jose
0081 CONGENITAL ANOMALIES, ITS IMPORTANCE AND THE ROLE OF A GENETIC COUNSELOR Dr. Hemamalini
0085 JOB SYNDROME : RARE IMMUNOLOGICAL DISORDER Sharanya Kamaraju
0088 Genetic Counseling- Need of hour! Bhakti Vinod Walawalkar
00120 A CASE OF PRADER–WILLI SYNDROME George Stratoudakis
e-Poster No. Abstract Title Author Name
0010 SICKLE CELL DISEASE – UPDATE ON DIAGNOSTIC & MANAGEMENT TOOL Dr. Sunderesh kamal chander. U
0045 Artificial Intelligence (AI) and Telegenetics for Genetic Counseling Dr. Pooja Chandrashekhar Upasani
0086 Telegenetics - Reflections of Patients satisfaction survey from a tertiary care Anitha Saminathan
0087 "GIS for mapping of Genetic Diseases Patients attending counselling clinic at a tertiary care teaching hospital" Satya Aditya Chittavarjula
0093 "Estimation of pathogenic variants of CYP19A1 gene and its relation with PCOS through nucleotide insilico analysis." Vignesh Thangappan
0094 "INSILICO CHARACTERIZATION OF STRUCTURAL AND FUNCTIONAL IMPACT OF THE DELETERIOUS SNPs ON THADA GENE" Sivarajan. S
0095 "ESTIMATION OF PATHOGENIC VARIANTS OF DFFB GENE AND ITS RELATION WITH PCOS THROUGH NUCLEOTIDE INSILICO ANALYSIS" N DHIVYA PRABA
00108 Genetic Counseling Tools: A Scoping Review Kriti Menon
00109 "A Scalable Chatbot Platform to Identify Patients Who Meet Cancer Genetic Testing Criteria" Shivani Nazareth
00130 Genotype-Phenotype Correlation: A Sleeping Giant Krishnendu Menon