Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications

Binay Kumar Raut; Lakshman Kumar Balasubramanian; Mukesh Kumar Jha; Shyam Sundar Malla; Moka Rajasekhar

doi:doi:10.11648/j.ajbls.20140202.13

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Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications

Binay Kumar Raut, Lakshman Kumar Balasubramanian, Mukesh Kumar Jha, Shyam Sundar Malla, Moka Rajasekhar

Published in American Journal of Biomedical and Life Sciences (Volume 2, Issue 2)

Received: 22 April 2014 Accepted: 14 May 2014 Published: 30 May 2014

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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.

Published in	American Journal of Biomedical and Life Sciences (Volume 2, Issue 2)
DOI	10.11648/j.ajbls.20140202.13
Page(s)	46-54
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Products of Conception (POC), Peripheral Blood Culture (PBC), Karyotyping (G, C and R Banding)

References

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Binay Kumar Raut, Lakshman Kumar Balasubramanian, Mukesh Kumar Jha, Shyam Sundar Malla, Moka Rajasekhar. (2014). Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications. American Journal of Biomedical and Life Sciences, 2(2), 46-54. https://doi.org/10.11648/j.ajbls.20140202.13

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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. Am. J. Biomed. Life Sci. 2014, 2(2), 46-54. doi: 10.11648/j.ajbls.20140202.13

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AMA Style

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. Am J Biomed Life Sci. 2014;2(2):46-54. doi: 10.11648/j.ajbls.20140202.13

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@article{10.11648/j.ajbls.20140202.13,
  author = {Binay Kumar Raut and Lakshman Kumar Balasubramanian and Mukesh Kumar Jha and Shyam Sundar Malla and Moka Rajasekhar},
  title = {Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications},
  journal = {American Journal of Biomedical and Life Sciences},
  volume = {2},
  number = {2},
  pages = {46-54},
  doi = {10.11648/j.ajbls.20140202.13},
  url = {https://doi.org/10.11648/j.ajbls.20140202.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajbls.20140202.13},
  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.},
 year = {2014}
}

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TY  - JOUR
T1  - Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications
AU  - Binay Kumar Raut
AU  - Lakshman Kumar Balasubramanian
AU  - Mukesh Kumar Jha
AU  - Shyam Sundar Malla
AU  - Moka Rajasekhar
Y1  - 2014/05/30
PY  - 2014
N1  - https://doi.org/10.11648/j.ajbls.20140202.13
DO  - 10.11648/j.ajbls.20140202.13
T2  - American Journal of Biomedical and Life Sciences
JF  - American Journal of Biomedical and Life Sciences
JO  - American Journal of Biomedical and Life Sciences
SP  - 46
EP  - 54
PB  - Science Publishing Group
SN  - 2330-880X
UR  - https://doi.org/10.11648/j.ajbls.20140202.13
AB  - 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.
VL  - 2
IS  - 2
ER  -

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Author Information

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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Binay Kumar Raut, Lakshman Kumar Balasubramanian, Mukesh Kumar Jha, Shyam Sundar Malla, Moka Rajasekhar. (2014). Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications. American Journal of Biomedical and Life Sciences, 2(2), 46-54. https://doi.org/10.11648/j.ajbls.20140202.13

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ACS Style

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. Am. J. Biomed. Life Sci. 2014, 2(2), 46-54. doi: 10.11648/j.ajbls.20140202.13

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AMA Style

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. Am J Biomed Life Sci. 2014;2(2):46-54. doi: 10.11648/j.ajbls.20140202.13

Copy | Download

@article{10.11648/j.ajbls.20140202.13,
  author = {Binay Kumar Raut and Lakshman Kumar Balasubramanian and Mukesh Kumar Jha and Shyam Sundar Malla and Moka Rajasekhar},
  title = {Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications},
  journal = {American Journal of Biomedical and Life Sciences},
  volume = {2},
  number = {2},
  pages = {46-54},
  doi = {10.11648/j.ajbls.20140202.13},
  url = {https://doi.org/10.11648/j.ajbls.20140202.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajbls.20140202.13},
  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.},
 year = {2014}
}

Copy | Download

TY  - JOUR
T1  - Cytogenetic Investigation in Prenatal Specimecimens for Effective Prognosis of Pregnancy Related Complications
AU  - Binay Kumar Raut
AU  - Lakshman Kumar Balasubramanian
AU  - Mukesh Kumar Jha
AU  - Shyam Sundar Malla
AU  - Moka Rajasekhar
Y1  - 2014/05/30
PY  - 2014
N1  - https://doi.org/10.11648/j.ajbls.20140202.13
DO  - 10.11648/j.ajbls.20140202.13
T2  - American Journal of Biomedical and Life Sciences
JF  - American Journal of Biomedical and Life Sciences
JO  - American Journal of Biomedical and Life Sciences
SP  - 46
EP  - 54
PB  - Science Publishing Group
SN  - 2330-880X
UR  - https://doi.org/10.11648/j.ajbls.20140202.13
AB  - 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.
VL  - 2
IS  - 2
ER  -

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