Literature DB >> 15053380

Genetic counseling.

Shubha R Phadke1.   

Abstract

Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis.

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Year:  2004        PMID: 15053380     DOI: 10.1007/bf02723098

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  7 in total

Review 1.  Goals of genetic counseling.

Authors:  B B Biesecker
Journal:  Clin Genet       Date:  2001-11       Impact factor: 4.438

2.  Genetic counselling: the psychological impact of meeting patients' expectations.

Authors:  S Michie; T M Marteau; M Bobrow
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

3.  Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?

Authors:  J Pahi; S R Phadke; A Halder; A Gupta; R Pandey; S S Agarwal
Journal:  Natl Med J India       Date:  1998 Jul-Aug       Impact factor: 0.537

4.  Psychological aspects of genetic counseling. XI. Nondirectiveness revisited.

Authors:  S Kessler
Journal:  Am J Med Genet       Date:  1997-10-17

Review 5.  Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

Authors:  C J Curry; R E Stevenson; D Aughton; J Byrne; J C Carey; S Cassidy; C Cunniff; J M Graham; M C Jones; M M Kaback; J Moeschler; G B Schaefer; S Schwartz; J Tarleton; J Opitz
Journal:  Am J Med Genet       Date:  1997-11-12

6.  The clinical value of a 'limited fetal autopsy' as illustrated by 2 cases.

Authors:  A K Sharma; S R Phadke; M Kamboj; S S Agarwal
Journal:  Aust N Z J Obstet Gynaecol       Date:  1994-02       Impact factor: 2.100

7.  Multicentric study on genetic causes of mental retardation in India. ICMR Collaborating Centres & Central Co-ordinating Unit.

Authors: 
Journal:  Indian J Med Res       Date:  1991-04       Impact factor: 2.375

  7 in total
  4 in total

1.  Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children.

Authors:  Sharmila Thillainathan; Nirmala D Sirisena; Kariyawasam W J C Kariyawasam; Rohan W Jayasekara; Vajira H W Dissanayake
Journal:  World J Pediatr       Date:  2014-11-20       Impact factor: 2.764

2.  Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience.

Authors:  Sunil Kumar Polipalli; Vijay Kumar Karra; Ankur Jindal; Madhavi Puppala; Pratiksha Singh; Kanchan Rawat; Seema Kapoor
Journal:  J Clin Diagn Res       Date:  2016-09-01

3.  Are Indian parents of children with Down syndrome engaged in the blame game?

Authors:  Mamta N Muranjan; Sweta R Budyal; Henal R Shah
Journal:  Indian J Pediatr       Date:  2012-10-19       Impact factor: 1.967

Review 4.  Ethical issues in genetic counselling with special reference to haemoglobinopathies.

Authors:  Vasantha Muthuswamy
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

  4 in total

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