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Published in: The Journal of Obstetrics and Gynecology of India 3/2020

01-06-2020 | Miscarriage | Original Article

Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss

Authors: R. K. Bhatt, MS, DNB, FICOG, MNAMS, M. Agarwal

Published in: The Journal of Obstetrics and Gynecology of India | Issue 3/2020

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Abstract

Introduction

Recurrent pregnancy losses (RPLs) are seen in up to 15–20% of all clinically recognized pregnancies, 1–2% of women in general population. Repeated losses are seen in 5–10% of women. The prevalence of chromosomal rearrangements is 6.65% in couples with repeated pregnancy losses. Two to 4% of RPL are associated with parental balanced reciprocal and Robertsonian translocations.

Materials and Methods

The study was conducted at a tertiary care hospital in New Delhi, and in total, 204 couples with RPL enrolled in the study.

Results

In total, 4490 couples presented to the obstetric clinic, of which 204 (4.5%) couples had repeated pregnancy losses. Cytogenetic analysis was done in 198 couples. Out of total 198 patients, 14 patients (7.1%) had cytogenetic alterations. Most common aberrations observed were structural rearrangements, of which reciprocal translocations were more common. In our study cohort, all the couples had maternal age of ≤ 35 years and all the alterations were seen either in mother or in both parents.

Discussion

Our study highlights that cytogenetic alterations not only are common in first trimester miscarriages, but are an important event in miscarriages presenting at later period of gestation and in young mothers as well.
Literature
1.
go back to reference Pfeifer S, Fritz M, Goldberg J, et al. Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss a committee opinion. Fertil Steril. 2012;98(5):1103–11.CrossRef Pfeifer S, Fritz M, Goldberg J, et al. Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss a committee opinion. Fertil Steril. 2012;98(5):1103–11.CrossRef
2.
go back to reference El Hachem H, Crepaux V, May-Panloup P, et al. Recurrent pregnancy loss: current perspectives. Int J Women’s Health. 2017;9:331–45.CrossRef El Hachem H, Crepaux V, May-Panloup P, et al. Recurrent pregnancy loss: current perspectives. Int J Women’s Health. 2017;9:331–45.CrossRef
3.
4.
go back to reference Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med. 2015;5(3):a023119.CrossRef Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med. 2015;5(3):a023119.CrossRef
5.
go back to reference Pylyp LY, Spynenko LO, Verhoglyad NV, et al. Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases. J Assist Reprod Genet. 2018;35(2):265–71.CrossRef Pylyp LY, Spynenko LO, Verhoglyad NV, et al. Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases. J Assist Reprod Genet. 2018;35(2):265–71.CrossRef
6.
go back to reference Choi TY, Lee HM, Park WK, et al. Spontaneous abortion and recurrent miscarriage: a comparison of cytogenetic diagnosis in 250 cases. Obstet Gynecol Sci. 2014;57(6):518.CrossRef Choi TY, Lee HM, Park WK, et al. Spontaneous abortion and recurrent miscarriage: a comparison of cytogenetic diagnosis in 250 cases. Obstet Gynecol Sci. 2014;57(6):518.CrossRef
7.
go back to reference Sheth F, Rahman M, Liehr T, et al. Prenatal screening of cytogenetic anomalies—a Western Indian experience. BMC Pregnancy Childbirth. 2015;15(1):90.CrossRef Sheth F, Rahman M, Liehr T, et al. Prenatal screening of cytogenetic anomalies—a Western Indian experience. BMC Pregnancy Childbirth. 2015;15(1):90.CrossRef
8.
go back to reference Hasanzadeh-NazarAbadi M, Baghbani F, Namazi I, et al. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family. Iran J Reprod Med. 2014;12(8):581–5.PubMedPubMedCentral Hasanzadeh-NazarAbadi M, Baghbani F, Namazi I, et al. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family. Iran J Reprod Med. 2014;12(8):581–5.PubMedPubMedCentral
9.
go back to reference Song J, li X, Sun L, et al. A family with Robertsonian translocation: a potential mechanism of speciation in humans. Mol Cytogenet. 2016;9(1):255–7.CrossRef Song J, li X, Sun L, et al. A family with Robertsonian translocation: a potential mechanism of speciation in humans. Mol Cytogenet. 2016;9(1):255–7.CrossRef
10.
go back to reference Zhao W-W, Wu M, Chen F, et al. Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China. PLoS ONE. 2015;10(5):1–14. Zhao W-W, Wu M, Chen F, et al. Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China. PLoS ONE. 2015;10(5):1–14.
11.
go back to reference Dong Y, Li LL, Wang RX, et al. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms. Genet Mol Res. 2014;13(2):2849–56.CrossRef Dong Y, Li LL, Wang RX, et al. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms. Genet Mol Res. 2014;13(2):2849–56.CrossRef
12.
go back to reference Zorrilla M, Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013;1(4):1–17.CrossRef Zorrilla M, Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013;1(4):1–17.CrossRef
13.
go back to reference Priya P, Mishra V, Roy P, et al. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. J Hum Reprod Sci. 2018;11(4):337.CrossRef Priya P, Mishra V, Roy P, et al. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. J Hum Reprod Sci. 2018;11(4):337.CrossRef
Metadata
Title
Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss
Authors
R. K. Bhatt, MS, DNB, FICOG, MNAMS
M. Agarwal
Publication date
01-06-2020
Publisher
Springer India
Keyword
Miscarriage
Published in
The Journal of Obstetrics and Gynecology of India / Issue 3/2020
Print ISSN: 0971-9202
Electronic ISSN: 0975-6434
DOI
https://doi.org/10.1007/s13224-020-01305-9

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