Literature DB >> 23730567

Preimplantation genetic diagnosis and deafness.

M K Taneja1.   

Abstract

Deafness in India ranges from 4.0 % in urban and 4.0-11 % in rural and slum areas, out of which 50 % are of conductive hearing loss hence curable. In the congenital hearing loss the incidence of syndromic hearing loss is only 30 %, rest 70 % are non syndromic. Genetic counseling is going to make aware the parents. Preimplantation genetic diagnosis can help to have a baby free from genetic deafness. Procedure is almost safe, harmless, non-invasive and ethically acceptable. While by genetic testing through prenatal genetic testing, amniocentesis and chorionic villous sampling is invasive and termination of pregnancy is difficult, social and ethical issue. The connexin 26 (CX26W 24X) has been observed as most common and easy to identify by polymerase chain reaction. There is always co morbidity after cochlear implantation and the person remains handicapped while baby after PGD shall be having healthy normal life and person prone to environmental factors may be counseled and guided to prevent deafness in next generation. Public must be made aware of noise pollution, tobacco toxicity and consanguinity. The obstetrician and pediatrician apart from ENT surgeon should be involved to prevent antenatal or neonatal deafness.

Entities:  

Keywords:  Genetic diagnosis; National deafness programme; Preimplantation; Sensoneural deafness

Year:  2012        PMID: 23730567      PMCID: PMC3392352          DOI: 10.1007/s12070-012-0569-7

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  6 in total

1.  Over a decade of experience with preimplantation genetic diagnosis.

Authors:  Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev
Journal:  Fertil Steril       Date:  2004-08       Impact factor: 7.329

2.  Genetic testing of embryos: a critical need for data.

Authors:  Susannah Baruch; G David Adamson; Jacques Cohen; William E Gibbons; Mark R Hughes; Anver Kuliev; Santiago Munné; Robert W Rebar; Joe Leigh Simpson; Yury Verlinsky; Kathy L Hudson
Journal:  Reprod Biomed Online       Date:  2005-12       Impact factor: 3.828

3.  Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Authors:  Gheona Altarescu; Talia Eldar-Geva; Baruch Brooks; Edith Zylber-Haran; Irit Varshaver; Ehud J Margalioth; Ephrat Levy-Lahad; Paul Renbaum
Journal:  J Assist Reprod Genet       Date:  2009-07       Impact factor: 3.412

4.  Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2.

Authors:  Georgia Kakourou; Seema Dhanjal; Danny Daphnis; Alpesh Doshi; Sarah Nuttall; Sarah Gotts; Paul Serhal; Joy Delhanty; Joyce Harper; Sioban SenGupta
Journal:  Prenat Diagn       Date:  2007-02       Impact factor: 3.050

5.  Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Authors:  M RamShankar; S Girirajan; O Dagan; H M Ravi Shankar; R Jalvi; R Rangasayee; K B Avraham; A Anand
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

6.  Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

Authors:  Pamela J Renwick; Jane Trussler; Elham Ostad-Saffari; Hiva Fassihi; Cheryl Black; Peter Braude; Caroline Mackie Ogilvie; Stephen Abbs
Journal:  Reprod Biomed Online       Date:  2006-07       Impact factor: 3.828

  6 in total
  2 in total

1.  Preimplantation genetic diagnosis: its role in prevention of deafness.

Authors:  M K Taneja
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2014-02-20

2.  Deafness, a Social Stigma: Physician Perspective.

Authors:  M K Taneja
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2014-09-23
  2 in total

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