5th International Young Scientist Congress (IYSC-2019).  International E-publication: Publish Projects, Dissertation, Theses, Books, Souvenir, Conference Proceeding with ISBN.  International E-Bulletin: Information/News regarding: Academics and Research

Study and Importance of Genetic Amniocentesis in Prenatal Diagnosis for High Risk Pregnancies

Author Affiliations

  • 1Shri Jagdishprasad Jhabarmal Tibrewal University, Jhunjhunu, Rajasthan, India

Int. Res. J. Biological Sci., Volume 5, Issue (5), Pages 14-17, May,10 (2016)

Abstract

This study presents chromosomal pattern of 1177 high risk pregnancies referred for amniocentesis. No growth was observed in 12(1.01%) cases. Out of 1165 cases, abnormalities were observed in 85(7.29%) cases. Out of total 85 abnormalities numerical abnormalities were presented in 43 (50.59 %%) cases including, trisomy 21 [34(40%)] trisomy 18 [4(4.70%)] monosomy of one of the sex chromosome and triploidy in one-one (1.18%) case each, and trisomy of sex chromosomes in 3(3.53%) cases. Structural abnormalities were observed in 41(48.23%) cases. The distribution of structural abnormalities includes 9(10.59%) translocations, 20(23.53%) inversions of autosomal chromosomes, 8(9.41%) inversions of one of the sex chromosomes, deletions and duplications in one-one (1.18%)case each and 3(3.52%) cases with derivatives. If the parental karyotype is available at the time fetal karyo the counseling and decision making about termination or continuation of pregnancy may become easier.

References

  1. Purandarey H. (2009)., Essentials of Human Genetics., 2nd ed., Jaypee Brothers, 327.
  2. Verma I. C. (2011)., Burden of genetic disorder in India., Indian J Pediatr., 67(12), 893-898.
  3. Purandarey H. and Chakravarty A. (2000)., Human Cytogenetics Techniques and Clinical Application., 1st ed., Bhalani Publishing House, 85117
  4. Kaur A. and Singh J.R. (2010)., Chromosomal abnormalities: Genetic disease burden in India., Int J Hum Genet., 10(1-3), 1-14.
  5. Verma I.C., Saxena R., Lal M., Bijarnia S. and Sharma R. (2003)., Genetic counseling and prenatal diagnsosis in India., Indian J Pediatr, 70(4), 293-7.
  6. Steele M.W. and Breg W.R. (1966)., Chromosome Analysis of Human amniotic fluid cells., The Lancet, 1, 385-5
  7. Caron L., Tihy F. and Dallaire L. (1999)., Frequency of chromosomal abnormaltiies at amniocentesis: over 20 years of cytogenetic analyses., Am J Med Genet, 82, 149-54
  8. Verp M.S. (1992)., Prenatal diagnosis of genetic disorders, In: Gleicher N., ed. Principles and practice of medical therapy in pregnancy., 2nd ed. Norwalk, CT: Appleton and Lange, 159-70
  9. Mathew T., Navasaria D. and Verma RS. (1992)., Prenatal diagnosis of 1,400 consecutive amniocentesis., Gynecol Obsect Invest, 34, 122-123
  10. Shaffer L.G., Slovak M.L. and Campbell L. (2009)., ISCN: An International system for human cytogenetic nomenclature., J Histochem Cytochem. 991-993.
  11. Carothers AD, Boyd E, Lowther G, Ellis PM and Couzin D.A. (1999)., Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 94 with associated cytogenetic and epidemiological findings., Genet Epidemiol., 16, 179-90
  12. Park S, Lee BY, Kim YM, Kim JM, Lee MH and Kim JW et al (2003)., De novo chromosomal aberrations in fetus, genetic counseling and clinical outcome., J Korean Med Sci., 23, 856-60
  13. Warburton D. (1991)., De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis, clinical significance and distribution of breakpoints., Am J Hum Genet., 49(5), 995-1013