ICNC Abstracts, ICNC 2018

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TITLE: Status of Genetic Counselling in Hereditary Neurogenetic disorders: A clinic-epidemiologic study in Western Rajasthan
Ankit Manoj Panday

Last modified: 2018-09-09


INTRODUCTION:Genetic counselling is indispensable strategy for management of HND's.Targeted genetic counselling enhances prenatal diagnosis and improves prevention and management.The current study was done with the aim to evaluate the status of Genetic counselling in HNDs

METHODOLOGY:Children from 0-15 years attending the Pediatric Neurology clinic were screened.Further testing  including metabolic, radiologic and genetic was done based on history.Impact of genetic counselling was evaluated by determining the  percentage of families opting for exact diagnosis(metabolic and/ or genetic),planning pregnancies as per results of Genetic counselling, pregnancies planned with prenatal testing and frequency of prenatal diagnosis established.

RESULTS:Out of 10,447 patients screened,902 (8.6%) patients were suspected to have HNDs as per case definition.190 (21%) were genetically confirmed and 100 (11%) were metabolically confirmed. Genetic counselling was done in total 644 cases (71.3%).Prenatal diagnosis was established in 26 cases (2.8%) which helped in prevention of genetic disorders in further pregnancies.These included 11 cases of Downs Syndrome,7 cases of SMA,2 cases of Tuberous Sclerosis and 1 case of proven mutation for Krabbes disease and 5 cases of DMD.


CONCLUSION:The frequency of families opting for an exact diagnosis (metabolic and/or genetic), planning pregnancies with and without prenatal testing is very dismal, mostly because of poor availability of genetic testing and high cost involved. The yield of prenatal testing is usually accurate but exact data on translation into prevention are lacking.


  1. CSIR-IGIB,New Delhi.
  2. MDRU,Dr SN Medical College Jodhpur, Ministry of Health and Family Welfare



Genetic counselling; Prenatal diagnosis; Tuberous Sclerosis; Neurogenetics; Spinal Muscular Atrophy

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