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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MATERIALS AND METHODS

Study subjects Our study included 900 POC samples from women who experienced EPLs (gestational age ≤12 weeks). POC samples, previously selected by a gynaecologist/patholo- gist [15] and accompanied with maternal whole blood sample, were referred for analysis of chromosomal abnor- malities to the Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, at the Mace- donian Academy of Sciences and Arts, Skopje. Signed informed consent was obtained from all participants in this study. The study has been approved by the ethical committee of the Macedonian Academy of Sciences and Arts (09-1047/6 from 04.05.2016). Table 1 displays the clinical characteristics of the women with EPLs, including maternal age, ethnic origin, history of previous EPL, previous live birth, maternal ABO blood group, Rhesus (Rh) factor, and the gestational week (gw) of the EPLs studied. The samples were categorized into three groups according to the maternal age: ≤30, 31- 35, and >36 years. The majority of patients were of Mace- donian (n=528) ethnic origin as well as Albanian (n=208). Gestational ages of the POCs consisted of samples from gw=6 to gw=11 (mean gestational age 8.5 weeks). Methods DNA extraction from the POC samples, as well as from maternal blood was performed using the standard phenol/chloroform method or the automated magnetic bead-based protocol using the MagCore Super instrument (RBC Bioscience). The study primarily used the quantita- tive fluorescent (QF)-PCR method with STR markers on chromosomes 13, 18, 21 and sex chromosomes. Three markers were located on chromosome 13, four on chromo- somes 18 and 21 each and six on the sex chromosomes. Ex- cept aneuploidies on the given chromosomes, this method also allowed for the determination of triploid samples, and exclusion of maternal DNA contamination in the analysed samples. This method is described in detail by Noveski et al. [16]. All results for chromosomal aneuploidies obtained by the QF-PCR analyses were confirmed by the subsequent subtelomere MLPA analyses. Chromosomal gains and losses were detected with the Multiplex Ligation Probe Amplification (MLPA) method, using the SALSA MLPA P036 Subtelomeres mix 1 and SALSA MLPA P070 Subtelomeres mix 2B (MRC-Hol- land). Each MLPA kit contains two probes for each chro- mosome. For metacentric chromosomes the two probes were located subtelomerically, while for the acrocentric chromosomes, one probe was located subcentromeric, while the other was subtelomeric. The detailed MLPA protocol as well as the chromosomal location of each probe contained in the kits is available on the MRC-Holland site. Capillary electrophoresis was performed on the AB3500 Genetic Analyser (Life Technologies), and the obtained results were analysed and interpreted using the Coffa- lyzer software (MRC-Holland). Mean values, standard deviations, percentages, odds ratios, and p-values were determined where appropriate, using the MedCalc software (MedCalc Software Ltd. https://www.medcalc.org/ Version 22.016; accessed November 17, 2023). A p-value below 0.05 was considered statistically significant.

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