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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INTRODUCTION

Pregnancy loss (PL), encompassing spontaneous abor- tion or miscarriage, refers to the premature termination of a pregnancy before fetal viability, typically before the 20th gestational week. Early pregnancy loss (EPL) denotes losses occurring within the first trimester (<12 weeks) [1]. Ap- proximately 15% of couples with confirmed pregnancies experience EPL, with recurrent PL (RPL) affect around 2% of them [2]. The etiology of PL is complex, involving a confluence of maternal and fetal factors. Maternal factors include endocrine disturbances, uterine anomalies, implanta- tion issues, and infections [3]. In the event of fetal cause of EPL, chromosomal abnormalities account for roughly half of EPL cases, whereas the underlying cause remains elu- sive in the other half. Chromosomal trisomies, are the most prevalent fetal chromosomal aberrations, constituting up to 56% of abnormal EPLs, with trisomy 16 being the most com- mon [4, 5]. Triploidy and monosomy, each affecting about 15% of abnormal conceptuses, follow in frequency. Rarer chromosomal anomalies comprise a smaller proportion of these cases. Lately, with the development of the molecular genetic technologies, especially with the widespread ap- plication of the whole exome sequencing (WES), embry- onic and fetal monogenic conditions, were also reported in EPLs. Genes linked to fetal death, such as CPLANE1, CHD7, FBN1, FGFR3, NIPBL, and SOS1, are often associated to multisystem disorders. Others are associated or related with specific conditions like cardiac anomalies (CSRP3, GATA4, SCN5A), skeletal dysplasia (COL1A1, FGFR2), kidney dis- eases (GREB1L, NPHS1), and CNS abnormalities (PIK3R2). This diversity suggests that EPL has varied etiologies [6-11]. Partial chromosomal aberrations, involving gain or loss of chromosomal content, represent a significant fac- tor contributing to EPL. Our previous research identified these aberrations in 8% of abnormal EPLs, demonstrating heterogeneity across different chromosomes [4]. Quantitative fluorescent polymerase chain reaction (QF-PCR) and multiplex ligation probe amplification (MLPA) have been established as valuable screening tools for chromosomal abnormalities in the context of EPL. These techniques have enabled detailed analysis of chromosomal aberrations, including partial chromosome abnormalities, revealing their diverse nature and impact on pregnancy outcome [4, 12-14]. Consequently, while these techniques provide a valuable first step in the diagnostic process, they may not yield a definitive genetic diagnosis in all cases since they cannot detect all abnormalities, such as interstitial chromosomal abnormalities or determine the size and gene content of the detected partial chromosomal abnormalities. Understanding these abnormalities is cru- cial for improving diagnostic accuracy, genetic counsel- ing, and potentially developing preventive strategies for recurrent pregnancy loss. Given the profound implications of partial chromosomal imbalances for fetal development and pregnancy outcome, a comprehensive and in-depth characterization of these aberrations is imperative. In this study, we employed array comparative ge- nomic hybridization (aCGH) to delineate the genomic architecture of previously detected partial chromosomal imbalances, including their size, location, and gene con- tent. This granular level of analysis is expected to provide deeper insights into the pathogenic mechanisms associated with these aberrations and contribute to a more compre- hensive understanding of the complex fetal etiology of early pregnancy loss.

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