Balkan Journal of Medical Genetics

CHROMOSOMAL ABNORMALITIES IN EARLY PREGNANCY LOSSES: A STUDY OF 900 SAMPLES
Bozhinovski Gj, Terzikj M, Kubelka-Sabit K, Jasar Dz, Lazarevski S, Livrinova V, Plaseska-Karanfilska D
*Corresponding Author: * Corresponding Author: Professor, Dijana Plaseska-Karanfilska,MD, PhD, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Science and Arts, Skopje, North Macedonia, mail: dijana@manu.edu.mk
page: 11

INTRODUCTION

Human reproduction is characterized by a high rate of abnormal conceptions, most of which are spontaneously eliminated before the pregnancy is clinically recognized. Pregnancy loss (PL), spontaneous abortion or miscarriage refers to the spontaneous (unintended) loss of pregnancy before the foetus reaches viability, i.e. before twenty weeks of gestation [1]. Early pregnancy loss (EPL) represents a spontaneous loss of pregnancy before the 12th week of gestation (first trimester). In the United States, recurrent pregnancy loss (RPL) is defined as having two or more consecutive failed clinical pregnancies, documented by ultrasound or histopathology, while in the United King- dom it is defined as having three or more consecutive early pregnancy losses [2,3]. Up to 15% of all clinically recognized pregnancies are miscarried, and nearly 2% of the couples that are trying to conceive experience RPL. The aetiology of EPL can include various factors, such as maternal endocrine dysregulation, anatomical abnormalities of the uterus, implantation factors, various infections during the pregnancy and foetal chromosomal abnormalities. About 40-65% of the miscarried foetuses are associated with various chromosomal abnormalities, the most common of which are chromosomal trisomies, followed by polyploidies and monosomy X [4-6]. Some studies have detected nearly equal frequencies in sporadic and recurrent EPLs, while others show a lower rate of chromosomal abnormalities in RPLs [7, 8]. Due to age-related oogenesis errors, advanced maternal age represents a considerable risk factor for EPL [9]. Indeed, many studies have confirmed a higher incidence of POCs with chromosomal abnormalities in women with advanced age. Published data indicate that foetal triploidies and monosomies are more common in younger women, while trisomies are more prevalent in older women [10, 11]. A limited number of data provide insight into the distribu- tion of chromosomal abnormalities in POCs in reference to the week of gestation. Up to now, there is no published study that correlates the maternal ABO blood groups and Rhesus factor with foetal chromosomal abnormality, even though the available data indicate that incompatible mat- ing and adverse pregnancy outcomes may correlate with ABO blood groups [12]. Chromosomal karyotyping has been the gold standard for studying the chromosomes for many decades, but this method is hampered by a high culture failure or maternal cell contamination. Currently, chromosomal microarrays represent a first-tier method for chromosomal abnormality investigations, however due to the high price, it is rarely used for EPLs. On the other side, quantitative fluorescent PCR (QF-PCR) and multiplex ligation probe amplification (MLPA) methods have emerged to determine any chromo- somal abnormalities in POCs. This is due to their lower cost, faster reporting times, and accurate results [13, 14]. Here we present the results of our 10 year study of EPLs using QF-PCR, followed by subtlomeric MLPA, including the distribution of foetal chromosomal abnor- malities in relation to the clinical characteristics of women experiencing EPLs.

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