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
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Abstract

Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromo- somal abnormalities in EPLs and correlate them with dif- ferent clinical characteristics. We performed Quantitative Fluorescent PCR (QF-PCR), followed by subtelomeric Multiplex Ligation Probe Amplification (MLPA) analysis to detect chromosomal abnormalities in 900 products of conceptions (POCs) from EPLs collected over a period of 10 years. Chromosomal abnormalities were present in 56.25% of uncontaminated EPLs, with significantly higher inci- dence in women >36 years (71.37%, p<0.0001) in com- parison to women <30 years of age (43.40%). Trisomies were also more common in women >36 years (79.68%, p<0.0001) than in those <30 years of age (48.70%). In contrast, triploidy and monosomies were more prevalent in women <30 years of age (26.09%, p<0.0001 and 16.52%, p=0.0066 respectively) than in women >36 years of age (6.42% and 6.42% respectively). Trisomy 16 was more common in women <30 (39.29%, p=0.0009) than in those >36 years of age (16.78%), while trisomy 22 was pre- dominant among women >36 (23.49%, p=0.013), and was not present in the group of women <30 years of age. The frequency of chromosomal abnormalities in POCs from women with sporadic (61.19%) was higher than in those with recurrent EPLs (55.21%). This difference, however, was not statistically significant (p=0.164). Although some differences in the chromosomal aneuploidy rates among women with different ABO blood groups, as well as among 6-8 and 9-11 gestational week EPLs were observed, further larger studies are required to confirm these findings. In conclusion, our study enriches the knowledge about chromosomal abnormalities as a cause of EPLs and confirms the higher incidence of foetal chromosomal abnormalities in EPLs in women of older reproductive age. Furthermore, it shows that using QF-PCR and MLPA methodologies, a high detection rate of chromosomal ab- normalities in EPLs can be reached.

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