Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Kubelka-Sabit, Katerina; Bozinovski, Gorgi; Jasar, Dzengis; Filipovski, Vanja; Lazarevski, Slobodan; Ivanovski, Mitko; Plaseska‐Karanfilska, Dijana

doi:10.1515/mmr-2017-0012

Cited by 2 publications

(2 citation statements)

References 31 publications

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“…The following placental tissue characteristics were examined: villous contours, villous stroma appearance (mucoid or hydropic change, cavitation), fetal erythrocyte presence, trophoblastic hyperplasia, and trophoblastic stromal inclusions. 15 …”

Section: Methodsmentioning

confidence: 99%

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Bozhinovski,

Terzikj,

Kubelka-Sabit

et al. 2024

Balkan Med J

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Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1 -related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common CPLANE1 allele among our population (NM_001384732.1:c.1819delT;c.7817T>A, further after referred as “complex allele”). Pathogenic variants in the CPLANE1 (C5orf42) gene are reported to cause JS type 17, a primary ciliopathy with various system defects. Aims: To examine the hypothesis that the CPLANE1 “complex allele,” whether homozygous or compound heterozygous, is a common cause of EPLs in our population. Study Design: Cohort study/case-control study. Methods: In this study, we used polymerase chain reaction-based methods to screen for CPLANE1 “complex allele” presence among 246 euploid EPLs (< 12 gestational weeks) from families in North Macedonia. We also investigated the impact of this allele in 650 women with EPLs versus 646 women with no history of pregnancy loss and at least one livebirth, matched by ethnic origin. Results: We found a high incidence of JS in the total study group of EPLs (2.03%), with a considerably higher incidence among Albanian families (6.25%). Although not statistically significant, women with EPLs had a higher allele frequency of the CPLANE1 “complex allele” (AF = 1.38%) than the controls (AF = 0.85%; p = 0.2). Albanian women had significantly higher frequency of the “complex allele” than the Macedonians (AF = 1.65% and 0.39%, respectively; p = 0.003). Conclusion: To the best of our knowledge, this is the highest reported incidence of fetal monogenic disease that might cause EPLs. Targeted screening for the CPLANE1 “complex allele” would be warranted in Albanian ethnic couples because it would detect one JS in every 16 euploid EPLs. Our findings have a larger impact on the pathogenesis of pregnancy loss and contribute to a better understanding of the pathogenicity of the variants in the CPLANE1 gene.

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Section: Methodsmentioning

confidence: 99%

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Bozhinovski,

Terzikj,

Kubelka-Sabit

et al. 2024

Balkan Med J

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“…Our study included 900 POC samples from women who experienced EPLs (gestational age ≤12 weeks). POC samples, previously selected by a gynaecologist/pathologist [ 15 ] and accompanied with maternal whole blood sample, were referred for analysis of chromosomal abnormalities to the Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, at the Macedonian Academy of Sciences and Arts, Skopje. Signed informed consent was obtained from all participants in this study.…”

Section: Methodsmentioning

confidence: 99%

Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples

Bozhinovski,

Terzikj,

Kubelka-Sabit

et al. 2023

Balkan Journal of Medical Genetics

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Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromosomal abnormalities in EPLs and correlate them with different 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 incidence in women ≥36 years (71.37%, p<0.0001) in comparison 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 predominant 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 abnormalities in EPLs can be reached.

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Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Cited by 2 publications

References 31 publications

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples

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