Literature DB >> 12619957

Prenatal diagnosis.

Madhulika Kabra1.   

Abstract

With the leaping advances in knowledge of genetics, its applications in patient management are also increasing. Prenatal diagnosis is the most useful application as it offers prospective parents the assurance of having an unaffected child in situations of high recurrence risks. Pretest and post test counseling is an integral part of prenatal diagnosis. All Pediatricians and Obstetricians should be familiar with the basic prerequisites of prenatal screening/testing. Timely referral, preferably pre-pregnancy is important. There is more or less a consensus regarding offering prenatal diagnosis for lethal/chronic disabling or difficult/expensive to treat conditions. Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present communication is an effort to present the clinician's perspective of prenatal diagnosis.

Entities:  

Mesh:

Substances:

Year:  2003        PMID: 12619957     DOI: 10.1007/bf02722749

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


  17 in total

1.  Factor VIII gene polymorphisms in the Asian Indian population.

Authors:  M R Chowdhury; F H Herrmann; W Schroder; C T Lambert; M R Lalloz; M Layton; H K Kumbnani; M Kabra; P S Menon; I C Verma
Journal:  Haemophilia       Date:  2000-11       Impact factor: 4.287

2.  One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester.

Authors:  K Spencer; C E Spencer; M Power; A Moakes; K H Nicolaides
Journal:  BJOG       Date:  2000-10       Impact factor: 6.531

3.  The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis.

Authors:  N Y Varawalla; J M Old; R Sarkar; R Venkatesan; D J Weatherall
Journal:  Br J Haematol       Date:  1991-06       Impact factor: 6.998

4.  Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma.

Authors:  Y M Lo; N M Hjelm; C Fidler; I L Sargent; M F Murphy; P F Chamberlain; P M Poon; C W Redman; J S Wainscoat
Journal:  N Engl J Med       Date:  1998-12-10       Impact factor: 91.245

5.  Prenatal diagnosis of beta-thalassaemia: experience in a developing country.

Authors:  R Saxena; P K Jain; E Thomas; I C Verma
Journal:  Prenat Diagn       Date:  1998-01       Impact factor: 3.050

6.  Regional distribution of beta-thalassemia mutations in India.

Authors:  I C Verma; R Saxena; E Thomas; P K Jain
Journal:  Hum Genet       Date:  1997-07       Impact factor: 4.132

Review 7.  Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

Authors:  R Mathur; M Kabra; P S Menon
Journal:  Natl Med J India       Date:  2001 Jan-Feb       Impact factor: 0.537

8.  Prenatal diagnosis of Duchenne muscular dystrophy.

Authors:  M Maheshwari; R Vijaya; M Kabra; S Arora; S S Shastri; D Deka; A Kriplani; P S Menon
Journal:  Natl Med J India       Date:  2000 May-Jun       Impact factor: 0.537

9.  Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.

Authors:  M J Somerville; A G Hunter; H L Aubry; R G Korneluk; A E MacKenzie; L C Surh
Journal:  Am J Med Genet       Date:  1997-03-17

10.  Are there ethnic differences in deletions in the dystrophin gene?

Authors:  M Banerjee; I C Verma
Journal:  Am J Med Genet       Date:  1997-01-20
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.