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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)


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.


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