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Department of Clinical Genetics and Genetic Counseling

The first of its kind clinic in tertiary clinical genetics, this department inaugurated in December 1997 is headed by Dr. Sujatha Jagadeesh an expert in dysmorphology and clinical genetics. Individuals or families are guided by a collective wisdom of internationally trained & certified geneticists and genetic counsellors to make informed decisions in a non-directive manner based on the vital and unbiased information given by a team of experts.

Mission :

1. To diagnose , treat and prevent the burden of birth defects
2. To provide psychosocial support to families with a genetic condition
3. To help families understand the implications of their genetic make up and make informed decisions.

Our Clinical genetic diagnosis encompasses the entire range of complexities in pregnancy. Genetic counselling is provided for issues related to pre-marital genetics, pre-pregnancy genetics, birth defects and other complex abnormalities.

Our Teams
1. Clinical Geneticists
Dr.-Sujatha-Jagadeesh

Dr. Sujatha Jagadeesh

Dr. Beena S.

Dr. Jayarekha Raja

2. Metabolic Dietitian

Mrs. Ranjani Parthasarathy

3. Genetic Counselors

Ms. Vaishnavi Reddy D

Mrs. Lakshmi N

Services

  • Screening test positive for Down syndrome
  • Prenatal Diagnosis
  • Non-invasive prenatal screening test
  • Congenital anomalies identified on ultrasound
  • Exposure to drug/ teratogens in pregnancy
  • Pre and post test counseling for invasive procedures

  • Family history of a suspected genetic disorder
  • Planning a marriage in consanguinity (i.e. in relation)

  • Bad obstetric history/ recurrent pregnancy loss
  • Neonatal or infant or fetal deaths/previous children with metabolic disorder, neurological issues, growth and development abnormalities, cardiac anomalies, etc.
  • Children and Adults with hearing and visual impairment
  • Infertility
  • Carrier Screening positive for thalassemia/ other hemoglobinopathies
  • Chromosomal rearrangements in blood karyotyping report
  • Family history of chromosomal/ genetic disorder
  • Consanguineous marriage – to determine if carriers of any potential genetic condition
  • Post fetal-autopsy counselling

  • Child born with
    • Suspected metabolic disorder
    • Chromosomal abnormality (eg. Down Syndrome)
    • Development delay
    • Dysmorphism
    • Failure to thrive
  • Skeletal abnormality eg: Osteogenesis Imperfecta, Achondroplasia
  • Intellectual disability
  • Neurological and neuromuscular disorders in the family
  • Autism spectrum disorders
  • Suspected single gene disorder
  • Post natal follow up of children with antenatally diagnosed anomalies
Cytogenetic and Molecular Genetic Testing is offered to all genetic conditions as indicated.

1. What to expect in a counseling session

  • Detailed history and pedigree
  • Thorough examination of the index child/ patient by the geneticist
  • Reviewing the reports
  • Plan testing accordingly

Further counseling session may be required according to case complexities.

2. Holistic management and treatment options for genetic disorders

  • Enzyme replacement therapy for selective Lysosomal storage disorders
  • Dietary management for Inborn errors of Metabolism
  • Facilitating therapies like Bone marrow transplant and Liver transplant
  • Therapy for Spinal Muscular Atrophy

Training and Fellowship Programs
  • Training of Fetal Medicine Students in Genetics
  • One year fellowship program in Genetics for pediatricians and Obstetricians
  • Three to six month internship for non-medical graduates with allied degrees in Basic Genetics, Genetic Engineering and Biotechnology
  • “Shadowing Genetic Counsellor“ prospective Genetic Counselling graduates
  • We conduct one day basic genetics program for obstetricians, fetal medicine specialists and pediatricians. We have successfully conducted this program in Chennai, Bangalore, Trichy and Ahmedabad
  • Published table reference booklets on genetics to be used by practitioners
Webinars and Conferences
  • Esteemed Speaker to 17th Japaraj Advanced Ultrasound Course – A virtual course held at Malaysia, presented a topic on Prenatal Diagnosis: When the right test makes a difference on August 12th 2022.
  • Presented a Lecture on Diagnostic clues for Lysosomal storage diorders and their treatment options at Genetic Update 2022 CME on Pediatrics at Coimbatore KMCH on july 31st
  • Speaker in CME in INFORM 2022 ( Information On Reproductive Medicine), organised by the Department of Biochemistry at Panimalar Medical College & Hospital, Chennai on 22nd April 2022.
  • Presented a lecture on Genetic testing of fetus – planning and pitfall in Fetomat 2022 – Current updates in Feto Maternal Medicine held in Feb 2022Presented a lectured in the 38th Annual conference Invited as a panelist in the 38th Annual conference Ogsicon 21st jan 2022 – Implications of Soft markers in Antenatal scans
  • Presented a topic on management of MPS Type 4 in the South Asian LSD - ISIEM virtual meeting held on 28th and 29th August 2021
  • Approach to Metabolic and Genetic Disorder in Newborn organzised by Lilac on 10th August 2021
  • Training in imaging sciences - Fogsi Webinar – Common anomalies and Indian birth registry data 27th July 2021
  • CME on interpreting fetal tests - Webinar organized by Mediscan on 19th June 2021
  • Workshop on Genetics of Congenital Heart Diseases in June 2021 – Genetic counseling for the families with congenital heart disease
  • Introduction meeting of LSD Diagnosis program – Illuminate” Lysosomal Storage Disorders” Diagnostic program in May 2021
  • Approach to common fetal malformations – April 2021 SLASD Symposium
  • Women’s day program “Challenge that Challenge them “Webinar on March 8th 2021
  • Race for 7 Rare Disease Awareness Event – “The untold and unheard Saga “in Feb 2021
  • ORDI SIAMG – “Unraveling Genetic disorders”; session 13 Expert session on approach towards rare diseases treatment and recent advances in the field.
  • FMFI – FOGSI – overview on common anomalies seen in India: Indian Birth Registry Data in Jan 2021
  • Authored a chapter “Genetic Counseling Approach in Dysmorphic Child “in the book titled Genetic counseling – Clinical and laboratory approach a ready reckoner for clinicians
Projects
  • Free Screening for New born for Congenital Adrenal Hyperplasia (CAH) at Institute of Ob & Gyn, Egmore, Chennai (Under the auspices of the Tamil Nadu government).
  • Member of Research Team of ICMR program of National Newborn Screening
  • Program co-coordinator of study on genetic susceptibility to Neural Tube Defects and its association with Maternal Vitamin B12 and Folate status funded by DBT
  • Principal Co investigator for ICMR project on Newborn screening for Congenital hypothyroidism and Congenital Adrenal Hyperplasia and High Risk screening on behalf of Fetal Care Research Foundation.
  • Co investigator for DST project for molecular diagnosis of Morquio Syndrome
  • Principal co investigation for DBT project for molecular diagnosis for all type of Mucopolysacharidosis.
  • Member of National LSD Registry Board Member of International Charitable
  • Access Program (ICAP) Genzyme Corporation and Clinical coordinator for Parents
  • Support group for children with LSD, IEM and SMA
Publications
S.No Title Author Year
S.No Title Author Year
1 Late onset Pompe Disease in India - Beyond the Caucasian phenotype. Neuromuscul Disord. 2021 May;31(5):431-441. doi: 10.1016/j.nmd.2021.02.013. Epub 2021 Feb 16. PMID: 33741225. Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS 2021
2 Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. Clin Genet. 2021 Jun;99(6):823-828. doi: 10.1111/cge.13941. Epub 2021 Feb 23. PMID: 33583041. Rezaei M, Suresh B, Bereke E, Hadipour Z, Aguinaga M, Qian J, Bagga R, Fardaei M, Hemida R, Jagadeesh S, Majewski J, Slim R. 2021
3 Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario. Front. Immunol. 11:612316. doi: 10.3389/fimmu.2020.612316 Yadav RM, Gupta M, Dalvi A, Bargir UA, Hule G, Shabrish S, Aluri J, Kulkarni M, Kambli P, Uppuluri R, Seshadri S, Jagadeesh S, Suresh B, Raja J, Taur P, Malaischamy S, Ghosh P, Mahalingam S, Kadam P, Lashkari HP, Tamhankar P, Tamhankar V, Mithbawkar S, Bhattad S, Jhawar P, Makam A, Bansal V, Prasad M, Govindaraj G, Guhan B, Bharadwaj Tallapaka K, Desai M, Raj R and Madkaikar MR 2020
4 Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family. J Clin Pathol. 2021 Oct;74(10):620-624. doi: 10.1136/jclinpath-2020-206960. Epub 2020 Dec 25. PMID: 33361148. Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS. 2020
5 Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Rep. 2020 Aug 15;56(1):82-94. doi: 10.1002/jmd2.12156. PMID: 33204599; PMCID: PMC7653245. Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri RD, Gupta N, Kabra M, Ranganath P, Bhat M, Phadke S, Radha Rama Devi A, Jagadeesh S, Danda S, Sylaja PN, Mandal K, Bijarnia-Mahay S, Makkar R, Verma IC, Dalal A, Ramaswami U. 2020
6 Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India. Endocrine. 2021 Jan;71(1):189-198. doi: 10.1007/s12020-020-02494-z. Epub 2020 Sep 18. PMID: 32948948. Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A. 2020
7 Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. PMID: 32277047. Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L. 2019
8 Down's Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters. J Obstet Gynaecol India. 2020 Feb;70(1):12-17. doi: 10.1007/s13224-018-1198-1. Epub 2019 Feb 11. PMID: 32030000; PMCID: PMC6982611. Suresh S, Cuckle HS, Jagadeesh S, Ghosh K, Vemavarapu G, Taval T, Suresh S. 2019
9 Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Am J Med Genet A. 2020 Jan;182(1):183-188. doi: 10.1002/ajmg.a.61388. Epub 2019 Oct 31. PMID: 31670473. Somashekar PH, Narayanan DL, Jagadeesh S, Suresh B, Vaishnavi RD, Bielas S, Girisha KM, Shukla A. 2020
10 Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. Am J Med Genet A. 2019 Jun;179(6):908-914. doi: 10.1002/ajmg.a.61119. Epub 2019 Mar 21. PMID: 30896082. Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F. 2019
11 Investigators of the Rare Kidney Stone Consortium. Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease. Kidney Int Rep. 2021 Sep 8;6(11):2862-2884. doi: 10.1016/j.ekir.2021.08.033. PMID: 34805638; PMCID: PMC8589729. Cogal AG, Arroyo J, Shah RJ, Reese KJ, Walton BN, Reynolds LM, Kennedy GN, Seide BM, Senum SR, Baum M, Erickson SB, Jagadeesh S, Soliman NA, Goldfarb DS, Beara-Lasic L, Edvardsson VO, Palsson R, Milliner DS, Sas DJ, Lieske JC, Harris PC. 2021
12 Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples. J. Obstet. Gynaecol. Res., 45: 830-840. https://doi.org/10.1111/jog.13920 Rose, R., Venkatesh, A., Pietilä, S., Jabeen, G., Jagadeesh, S.M. and Seshadri, S. 2019
13 Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. PMID: 30394532. Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. 2019
14 The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20. PMID: 29463882. Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R. 2018
15 Normative Data of Thyroid Gland Volume in South Indian Neonates and Infants. Indian J Pediatr. 2018 Dec;85(12):1045-1049. doi: 10.1007/s12098-017-2528-5. Epub 2018 Feb 9. PMID: 29423669. Prabhu SR, Mahadevan S, Jagadeesh S, Dharan D, Ganesh C, Suresh S, Suresh I. 2018
16 The promise of discovering population-specific disease-associated genes in South Asia. Nat Genet 49, 1403–1407 (2017). https://doi.org/10.1038/ng.3917 Nakatsuka, N., Moorjani, P., Rai, N. et al. 2017
17 Mutations in ARSB in MPS VI patients in India. Mol Genet Metab Rep. 2015 Jul 17;4:53-61. doi: 10.1016/j.ymgmr.2015.06.002. PMID: 26937411; PMCID: PMC4750586. Mathew J, Jagadeesh SM, Bhat M, Udhaya Kumar S, Thiyagarajan S, Srinivasan S. 2015
18 Congenital Hypothyroidism: Recent Indian data. Indian J Endocrinol Metab. 2015 May-Jun;19(3):436-7. doi: 10.4103/2230-8210.152800. PMID: 25932408; PMCID: PMC4366791. Prabhu SR, Mahadevan S, Jagadeesh S, Suresh S. 2015
19 'Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa', European Journal of Human Genetics, vol. 22, no. 7, pp. 888-895. https://doi.org/10.1038/ejhg.2013.154 Gardeitchik, T, Mohamed, M, Fischer, B, Lammens, M, Lefeber, D, Lace, B, Parker, M, Kim, KJ, Lim, BC, Häberle, J, Garavelli, L, Jagadeesh, S, Kariminejad, A, Guerra, D, Leão, M, Keski-Filppula, R, Brunner, H, Nijtmans, L, Van Den Heuvel, B, Wevers, R, Kornak, U & Morava, 2013
20 Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American journal of human genetics. 94(1):62-72. Tuz, K., Bachmann-Gagescu, R., O'Day, D.R., Hua, K., Isabella, C.R., Phelps, I.G., Stolarski, A.E., O'Roak, B.J., Dempsey, J.C., Lourenco, C., Alswaid, A., Bönnemann, C.G., Medne, L., Nampoothiri, S., Stark, Z., Leventer, R.J., Topçu, M., Cansu, A., Jagadeesh, S., Done, S., Ishak, G.E., Glass, I.A., Shendure, J., Neuhauss, S.C., Haldeman-Englert, C.R., Doherty, D., and Ferland, R.J. 2014
21 type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. Indian Pediatr. 2013 Oct;50(10):965-6. doi: 10.1007/s13312-013-0239-1. PMID: 24222285. Karthikeyan G, Jagadeesh S, Seshadri S, Häberle J. Citrullinemia 2013
22 University of Washington Center for Mendelian Genomics. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. PMID: 23261301; PMCID: PMC3542461. McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ. 2012
23 Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. Indian Pediatr. 2011 Jul;48(7):559-61. doi: 10.1007/s13312-011-0086-x. PMID: 21813924. Reicherter K, Veeramani AI, Jagadeesh S. 2011
24 Review Article Genetic counseling in chromosomal abnormalities [Quick Edit]J Prenat Diagn Ther, Vol 1(1) Jan 2010: 14-19 Vandana Bansal, S. Suresh, Indrani Suresh, Sujatha Jagadeesh and Gazala Fazal. 2010
25 Prenatal diagnosis of restrictive dermopathy. Indian Pediatr. 2009 Apr;46(4):349-51. PMID: 19383993. Jagadeesh S, Bhat L, Suresh I, Muralidhar SL. 2009
26 Perinatal outcome after multifetal pregnancy reduction. Indian J Pediatr. 2008 Sep;75(9):907-9. doi: 10.1007/s12098-008-0184-5. Epub 2008 Sep 22. PMID: 18810344. Suresh S, Indrani S, Thangavel G, Sujatha J. 2008
27 Triple X syndrome with rare phenotypic presentation. Indian J Pediatr. 2008 Jun;75(6):629-31. doi: 10.1007/s12098-008-0120-8. Epub 2008 Aug 31. PMID: 18759093. Jagadeesh S, Jabeen G, Bhat L, Vasikarla M, Suresh A, Seshadri S, Lata S. 2008
28 Perinatal outcome after multifetal pregnancy reduction. Indian J Pediatr 75, 907–909 (2008). https://doi.org/10.1007/s12098-008-0184-5 Suresh, S., Indrani, S., Thangavel, G. et al. 2008
29 Retinoblastoma in India : microsatellite analysis and its application in genetic counseling. Mol Diagn Ther. 2007;11(1):63-70. doi: 10.1007/BF03256223. PMID: 17286451. Ramprasad VL, Madhavan J, Murugan S, Sujatha J, Suresh S, Sharma T, Kumaramanickavel G. 2007
30 Methodological issues in setting up a surveillance system for birth defects in India. Natl Med J India. 2005 Sep-Oct;18(5):259-62. PMID: 16433142. Suresh S, Thangavel G, Sujatha J, Indrani S. 2005
31 A case of non-lethal short limbed skeletal deformity. 9. 40-42. Jagadeesh, Sujatha & Ravishankar, S. & Bhat, L. & Suresh, Indrani. 2007
32 Prenatal diagnosis of cleft lip and palate. 5. 280-286. Bansal, Vandana & Jagadeesh, Sujatha & Suresh, Indrani & Seshadri, Suresh. 2003
33 Second trimester diagnosis of Neu Laxova syndrome. Prenatal diagnosis. 23. 21-4. 10.1002/pd.485 Amudhavalli, Shivarajan & Seshadri, Suresh & Jagadeesh, Sujatha & Srinivasan, Lata & Bhat, Lathaa. 2003
34 “Case Report Prenatal diagnosis of cerebrocerebellar lissencephaly-bicerebellar diameter as a pointer”. Ind J Med Ultrasound 1999; 14: 16-19 Suresh S, Indrani S, Vijayalakshmi R. Bharathi A, Sujatha J. 1999