The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

Abstract

BACKGROUND: Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM. OBJECTIVES: Evaluate the spectrum and the frequencies of chromosomal anomalies in RM. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Turkey. PATIENTS AND METHODS: We studied couples with RM between October 2020 and January 2022. Relevant family and medical history, clinical examination and the results of karyotype were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence and types of chromosomal aberrations in couples with RM. SAMPLE SİZE: 362 couples with a history of RM RESULTS: Among the 362 couples, 14 cases (3.86%) had chromosome abnormalities. Eight cases (57.14%) were structural anomalies and six cases (42.86%) were numerical chromosomal aberrations. We found five balanced translocations (67.5%) and three Robertsonian translocations (37.5%). The prevalence of polymorphic variants was 51/362 (14.1%). CONCLUSIONS: This study supports the conclusion that clinicians should understand the importance of chromosome analysis in these couples and direct them to karyotyping after two abortions in order to exclude the possibility of a genetic cause of RM. LIMITATIONS: Single-center study and retrospective. CONFLICT OF INTEREST: None.

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

“…However, the segregation analysis of this translocation is of significant interest because of the effect of chromosomes 14 and 15 in developing different genetic disorders ( 8 ). The incidence of these abnormalities among couples experiencing recurrent miscarriages ranges from 3% to 8% ( 9 ). As for all acrocentric chromosomes, the UPD of chromosomes 14 and 15 leads to an abnormal phenotype.…”