Balkan Journal of Medical Genetics

DELINEATION OF PARTIAL CHROMOSOMAL ABNORMALITIES IN EARLY PREGNANCY LOSSES
Bozhinovski Gj1, Terzikj M1, Kubelka-Sabit K2,3, Plaseska-Karanfilska D1,*
*Corresponding Author: *Corresponding Author: Prof. Dijana Plaseska-Karanfilska, M.D., Ph.D. Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000, Skopje, Republic of North Macedonia. Tel: +389-2-3235-410 E-mail: dijana@manu.edu.mk
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Abstract

Pregnancy loss (PL), particularly early pregnancy loss (EPL), is a prevalent reproductive complication, with approximately 15% of confirmed pregnancies affected. Chromosomal abnormalities are implicated in more than half of EPLs, with trisomies being the most prevalent. Partial abnormalities, including segmental deletions, du- plications, and unbalanced translocations, are detected in up to 10% of EPL cases. This study focuses on the precise characterization of partial chromosomal abnormalities, previously identified by Quantitative fluorescent poly- merase chain reaction (QF-PCR) and multiplex ligation probe amplification (MLPA) analyses. By employing an array comparative genomic hybridization (aCGH), we ana- lyzed 20 EPL samples, identifying 32 partial chromosomal abnormalities, including 18 deletions and 14 duplications, with an average size of 33.2 Mb. Notably, two abnormali- ties previously undetected by QF-PCR and MLPA were revealed (deletions in 7q36, and 1p36.32p36.31regions), emphasizing the necessity of high-resolution genomic tools. Chromosomes 1, 18, and 13 emerged as frequently involved, aligning with previous associations with re- current pregnancy loss. Recurrent abnormalities were identified in six chromosomal regions, with chromosome 1p36.33-p36.32 exhibiting the highest frequency. Gene Ontology (GO) enrichment analysis of recurrent regions highlighted disruptions in critical biological processes, including molecular binding, enzymatic activity, and cel- lular development. Many genes in these regions are linked to multisystem syndromes, suggesting their involvement in early embryonic development and pregnancy viability. Our findings underscore the complexity of EPL’s ge- netic landscape, demonstrating that large CNVs, may disrupt multiple genes critical for development. Although, subtelo- meric MLPA reliably detects telomeric partial chromosomal abnormalities in EPLs, aCGH is essential for detection and precise characterization of all CNVs, thus enhancing diag- nostic and counseling strategies in affected couples.

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