Cytogenetic Analysis of Patients with Recurrent Miscarriages

Authors

  • Muhammad Umar
  • Hamid Saeed Malik
  • Hira Nadeem
  • Babar Zaman
  • Noor ul Huda Alhadi
  • Fauzia Khan Khan

DOI:

https://doi.org/10.51985/JBUMDC2022148

Keywords:

Chromosomes, Cytogenetics, Recurrent Pregnancy Loss

Abstract

Objective: To evaluate the cytogenetic analysis of patients with recurrent miscarriages.
Study design and setting: Cross-sectional study, Department of Hematology, Armed Forces Institute of Pathology,
Rawalpindi from February 2022 to August 2022.
Methodology: 196 patients (98 couples) of recurrent miscarriages within the reproductive age group were included. Cases
with known anatomical or endocrinal causes of recurrent miscarriages were excluded. Couples with abnormal reproductive
tract anatomy or abnormal endocrine functions were excluded. A standardized system for human cytogenetic nomenclature
was used for identifying all chromosomal aberrations. Axioscope microscopes (MetaSystems, Germany) were used for
visualizing the metaphases, and MetaSystems software (MetaSystems, Germany) was used to determine the karyotype of
each metaphase. Data were analyzed using the student t-test and Chi-square test. A p-value =0.05 was considered significant.
Results: Of 98 couples, most of the couples experienced 3 miscarriages. The difference in ages between males and females
was significant (p-value <0.001). Chromosomal abnormalities were found in 7 (7.2%) of females and 5 (5.2%) of males.
Positive family history of RPL was noted in 27 (13.8%) of the participants. A total of 12/196 (6.1%) males and females
experiencing RPL had chromosomal anomalies. Out of these 1 individual (0.5%) had structural aberration, 1(0.5%) numerical
abnormality, and 10 (5.1%) were found to have Chromosome Polymorphism.
Conclusions: Translocations, numerical aberrations, and chromosomal polymorphism are common cytogenetic abnormalities
noted in cases with RPL. Clinicians should refer such couples for karyotyping to rule out the possible genetic causes of
recurrent miscarriages.

References

Hanif MI, Khan A, Arif A, Shoeb E. Cytogenetic investigation

of couples with recurrent spontaneous miscarriages. Pak J

Med Sci. 2019;35(5):1422. https://doi.org/10.12669%

Fpjms.35.5.678

Kling C, Hedderich J, Kabelitz D. Fertility after recurrent

miscarriages: results of an observational cohort study. Arch

Obstet Gynaecol. 2018;297(1):205-19. https://doi.org/10.1007

/s00404-017-4532-4

Alibakhshi R, Nejati P, Hamani S, Mir-Ahadi N, Jalilian N.

Cytogenetic analysis of 570 couples with recurrent pregnancy

loss: Reporting 11 years of experience. Journal of Human

Reproductive Sciences. 2020;13(3):216. https://doi.org/

4103%2Fjhrs.JHRS_138_19

Robbins SM, Thimm MA, Valle D, Jelin AC. Genetic diagnosis

in first or second trimester pregnancy loss using exome

sequencing: a systematic review of human essential genes. J

Assist Reprod Genet. 2019;36(8):1539-48. https://doi.

org/10.1007/s10815-019-01499-6

Pandith AA, Manzoor U, Amin I, Ahmad A, Rashid M, Zargar

MH, Rah S, Dar FA, Qasim I, Sanadhya D. High incidences

of chromosomal aberrations and Y chromosome microdeletions as prominent causes for recurrent pregnancy losses

in highly ethnic and consanguineous population. Arch Obstet

Gynaecol. 2022;305(6):1393-408. https://doi.org/10.1007

/s00404-021-06235-z

van Dijk MM, Kolte AM, Limpens J, Kirk E, Quenby S, van

Wely M, Goddijn M. Recurrent pregnancy loss: diagnostic

workup after two or three pregnancy losses? A systematic

review of the literature and meta-analysis. Hum Reprod

Update. 2020;26(3):356-67. https://doi.org/10.1093

/humupd/dmz048

Pal AK, Ambulkar PS, Waghmare JE, Wankhede V, Shende

MR, Tarnekar AM. Chromosomal aberrations in couples with

pregnancy loss: a retrospective study. J Hum Reprod Sci.

;11(3):247. https://doi.org/10.4103%2Fjhrs. JHRS_

_17

Houmaid H, El Bekkay C, Nassereddine S, Talbi H, Amehdare

L, Hilali A. Chromosomal abnormalities in 238 couples with

recurrent miscarriages in Morocco. Open Journal of Genetics.

;8(02):15. http://www.scirp.org/journal/ PaperInformation

.aspx?PaperID=85089abstract

Zhang T, Sun Y, Chen Z, Li T. Traditional and molecular

chromosomal abnormality analysis of products of conception

in spontaneous and recurrent miscarriage. BJOG: Int J Obstet

Gynecol. 2018;125(4):414-20. https://doi.org/10.1111/ 1471-

15052

Goud TM, Al Harassi SM, Al Salmani KK, Al Busaidy SM,

Rajab A. Cytogenetic studies in couples with recurrent

miscarriage in the Sultanate of Oman. Reprod Biomed Soc

Online. 2009;18(3):424-9. https://doi.org/10.1016/S1472-

(10)60104-6

Quenby S, Gallos ID, Dhillon-Smith RK, Podesek M,

Stephenson MD, Fisher J, Brosens JJ, Brewin J, Ramhorst

R, Lucas ES, McCoy RC. Miscarriage matters: the

epidemiological, physical, psychological, and economic costs

of early pregnancy loss. Lancet. 2021;397(10285):1658-67.

https://doi.org/10.1016/S0140-6736(21)00682-6

Hossain N, Shamsi T, Khan N, Naz A. Thrombophilia

investigation in Pakistani women with recurrent pregnancy

loss. J Obstet Gynaecol Res. 2013;39(1):121-5.

https://doi.org/10.1111/j.1447-0756.2012.01925.x

Santjohanser C, Knieper C, Franz C, Hirv K, Meri O, Schleyer

M, Würfel W, Toth B. Granulocyte-colony stimulating factor

as treatment option in patients with recurrent miscarriage.

Arch Immunol Ther Exp. 2013;61(2):159-64.

https://doi.org/10.1007/s00005-012-0212-z

Stephenson MD, Awartani KA, Robinson WP. Cytogenetic

analysis of miscarriages from couples with recurrent

miscarriage: a case–control study. Hum Reprod. 2002;17(2):

-51. https://doi.org/10.1093/humrep/17.2.446

PARAZZINI F, BOCCIOLONE L, FEDELE L, NEGRI E,

LA VECCHIA CA, ACAIA B. Risk factors for spontaneous

abortion. Int J Epidemiol. 1991;20(1):157-61. https://doi.

org/10.1093/ije/20.1.157

Miskovic S, Culic V, Konjevoda P, Pavelic J. Positive

reproductive family history for spontaneous abortion: predictor

for recurrent miscarriage in young couples. ur J Obstet Gynecol

Reprod Biol. 2012;161(2):182-6. https://doi.org/10.1016/j.

ejogrb.2011.12.027

Woolner AM, Nagdeve P, Raja EA, Bhattacharya S,

Bhattacharya S. Family history and risk of miscarriage: a

systematic review and meta-analysis of observational studies.

cta Obstet Gynecol Scand. 2020;99(12):1584-94.

https://doi.org/10.1111/aogs.13940

Sudhir N, Kaur T, Beri A, Kaur A. Cytogenetic analysis in

couples with recurrent miscarriages: a retrospective study

from Punjab, north India. J Genet. 2016;95(4):887-94.

https://doi.org/10.1007/s12041-016-0713-3

Irum S, Robert HM, Mahmood A, Mahmood R, Khurshid A,

Khan SA. Frequency of clinical features and cytogenetic

defects in down syndrome diagnosed at afip. PAFMJ. 2021

Jan 31:S28.

Kochhar PK, Ghosh P. Reproductive outcome of couples with

recurrent miscarriage and balanced chromosomal

abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20.

https://doi.org/10.1111/j.1447-0756.2012.01905.x

Feng X, Liu J, Wang Y, Fu J, Qin Q, Cao Y, Wu Y. Acrocentric

chromosome polymorphic variants on chinese female have

possible association with unexplained recurrent pregnancy

loss. Reprod Sci. 2021;28(2):575-84. https://doi.org/10.1007

/s43032-020-00332-1

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Published

2023-04-03

How to Cite

Umar, M. ., Malik, H. S. ., Nadeem, H. ., Zaman, B. ., Alhadi, N. ul H. ., & Khan, F. K. (2023). Cytogenetic Analysis of Patients with Recurrent Miscarriages. Journal of Bahria University Medical and Dental College, 13(02), 121–124. https://doi.org/10.51985/JBUMDC2022148

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Original Articles