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Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss

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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.


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.


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.

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Author information

Correspondence to M. Agarwal.

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There are no potential conflicts of interest to declare.

Human and Animal Rights

Research involved human participants for workup of miscarriages, and no animal trials were involved.

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Written informed consent was obtained from all the patients.

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R. K. Bhatt is a Consultant (Obstetrics and Gynecology and Fetal Maternal Medicine Splt. Army Hospital (Research and Referral), New Delhi. Aluminus of B. J. Medical College, Pune and Postgraduation from INHS Asvini, Mumbai. Special interest in Fetal medicine, Genetics, Invasive procedures and High risk pregnancy. Numerous publications to credit. Author is currently working on preeclampsia screening. M. Agarwal is the Associate Professor, MD (Pathology), PhD (Cytogenetics) in Army Hospital Research and Referral, New Delhi, India.

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Bhatt, R.K., Agarwal, M. Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss. J Obstet Gynecol India (2020). https://doi.org/10.1007/s13224-020-01305-9

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  • Robertsonian translocations
  • Balanced translocations
  • Unbalanced translocations
  • Miscarriage