Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications
American Journal of Biomedical and Life Sciences
Volume 2, Issue 2, April 2014, Pages: 46-54
Received: Apr. 22, 2014; Accepted: May 14, 2014; Published: May 30, 2014
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Authors
Binay Kumar Raut, Department of Biochemistry, Kathmandu University School of Medical Sciences, Dhulikhel, Kavre, Nepal
Lakshman Kumar Balasubramanian, Department of Biotechnology, Kongunadu Arts and Science College, Coimbatore, Tamilnadu, India
Mukesh Kumar Jha, Department of Physiology, Kathmandu University School of Medical Sciences, Dhulikhel, Kavre, Nepal
Shyam Sundar Malla, Department of Biochemistry, Kathmandu University School of Medical Sciences, Dhulikhel, Kavre, Nepal
Moka Rajasekhar, Department of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India
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Abstract
Background: Alterations in chromosomal content of mother and infant are central characteristics of various complications related to pregnancy and early childhood. About 60% of the pregnancy losses, 2-3% of all the neonates and 50% of childhood deafness, blindness, mental retardation and 1 to 10 % of all the malignancies are directly due to genetic factors. Hence cytogenetic testing of pre and post natal samples can prove to be useful for discovery of non-invasive markers for prevention of such conditions beforehand. Aim of the study: The present study was carried out to detect numerical and structural abnormalities in 56 subjects with repeated miscarriages, bad obstetric history and sub fertility by analysing peripheral blood, products of conception (POC) material, and recovered cell lines from prenatal samples. Methods: Conventional cytogenetics: Peripheral blood culture (PBC) supplemented with mitogen Phytohemagglutinin (PHA), metaphase chromosomes was harvested after 72 hours for chromosome analysis. Tissue cytogenetics: Culture of solid tissue was used as a source for mitotic cells from products of conception (POC) from first trimester spontaneous abortions for aneuploidy detection; and Prenatal chromosome analysis was performed by either chorionic villus sampling (CVS), amniotic fluid and cord blood after culture. Image acquisition and analysis was performed by using automated karyotyping (IKAROS) software based on G, C and R banding. Results: Chromosomal abnormalities were located in all types of specimens but were predominantly observed in recurrent pregnancy loss (RPL) and product of conception (POC) samples. Aberrations observed were mainly translocations, satellites, additions in RPL cases like 46,XX with instances of (D/D,D/G,G/Gassociations);45,XX,rob(13;14);46,XXt(4;21);46,XX,(9qh+);46,XX,(14ps+);46,XX, t(5;6) and ploidy involving 67,XX+;64,XXX+;69,XXX;63,XXX;58,XX+ in the POC cases. Conclusion: Cytogenetic screening could provide to be a useful method for monitoring patients with abnormal pregnancies. The cytogenetic result is an independent prognostic indicator, with certain karyotypes associated with a good prognosis for the better treatment.
Keywords
Products of Conception (POC), Peripheral Blood Culture (PBC), Karyotyping (G, C and R Banding)
To cite this article
Binay Kumar Raut, Lakshman Kumar Balasubramanian, Mukesh Kumar Jha, Shyam Sundar Malla, Moka Rajasekhar, Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications, American Journal of Biomedical and Life Sciences. Vol. 2, No. 2, 2014, pp. 46-54. doi: 10.11648/j.ajbls.20140202.13
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