International Journal of Infertility & Fetal Medicine

Register      Login

VOLUME 8 , ISSUE 1 ( January-April, 2017 ) > List of Articles

CASE REPORT

Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple

Citation Information : Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017; 8 (1):36-40.

DOI: 10.5005/jp-journals-10016-1145

Published Online: 00-04-2017

Copyright Statement:  Copyright © 2017; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Purpose

Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion.

Materials and methods

Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual.

Results

Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus.

Conclusion

The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring.

How to cite this article

De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.


PDF Share
  1. The genetic causes of male factor infertility: a review. Fertil Steril 2010 Jan;93(1):1-12.
  2. Recurrent miscarriage and thrombophilia. Ned Tijdschr Geneeskd 2006 Jan 28;150(4):189-193.
  3. Cytogenetic causes for recurrent spontaneous abortions an experience of 742 couples (1484 cases). Indian J Hum Genet 2005 Jul;11(2):94-98.
  4. Cytogenetic studies in patients with reproductive failure. Acta Obstet Gynecol Scand 2003 Jan;82(1):53-56.
  5. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 1960 Sep;20:613-616.
  6. A rapid banding technique for human chromosomes. Lancet 1971 Oct 30;2(7731):971-972.
  7. Amniocentesis for prenatal diagnosis. Clin Obstet Gynecol 1981;24:1007.
  8. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007 Feb 15;145C(1):87-98.
  9. A Robertsonian translocation rob (14;15) (q10:q10) in a patient with recurrent abortions: a case report. J Reprod Infertil 2010 Oct;11(3):197-200.
  10. A cytogenetic study of 514 Chinese couples with recurrent spontaneous abortion. Chin Med J (Engl) 1996 Aug;109(8):635-638.
  11. Epidemiology and the medical causes of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Oct;14(5):839-854.
  12. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril 2000 Feb;73(2):300-304.
  13. Chromosome abnormalities and genetic counseling. 2nd ed. Oxford: Oxford University Press; 1996.
  14. Robertsonian translocations – reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001 Nov;16(11):2267-2273.
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.