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Submicroscopic Chromosomal Imbalances Contribute to Early Abortion


Submicroscopic Chromosomal Imbalances Contribute to Early Abortion

Haibo Li et al. Mol Cytogenet.


Background: Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find out whether submicroscopic chromosomal imbalances contribute to early abortion.

Methods: A total of 78 chorionic villus specimens from early spontaneous abortion patients with no obvious abnormality are collected after miccroassay analysis (the case group). At the same time, 60 chorionic villus specimens from induced abortion patients with no obvious abnormality are selected as the control group. The submicroscopic structures of chromosomes from two groups are analyzed using an array-based comparative genomic hybridization (aCGH).

Results: In the case group, 15 specimens show submicroscopic chromosomal abnormalities including 14 micro-deletion/micro-duplication in chromosomes 2, 4, 5, 6, 7, 8, 9, 12, 15, 16, 18, and 22, and 1 uniparental disomy (UPD) in chromosome 19. Moreover, no pathogenic copy number variations are found in the control group. The results between these two groups exhibit significantly statistical difference.

Conclusion: Submicroscopic chromosomal imbalances may be one of the main reasons for early abortion.

Keywords: Abortion; Chorionic villus; Chromosomal abnormality; Karyotype analysis.

Conflict of interest statement

The study was approved by the ethic committee. Informed consent was obtained.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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    1. Muttukrishna S, Jauniaux E, Greenwold N, McGarrigle H, Jivraj S, Carter S, Elgaddal S, Groome N, Regan L. Circulating levels of inhibin a, activin a and follistatin in missed and recurrent miscarriages. Hum Reprod. 2002;17:3072–3078. doi: 10.1093/humrep/17.12.3072. - DOI - PubMed
    1. Oliver A, Overton C. Diagnosis and management of miscarriage. Practitioner. 2014;258:25–28. - PubMed
    1. Vaiman D. Genetic regulation of recurrent spontaneous abortion in humans. Biom J. 2015;38:11–24. - PubMed
    1. Sugiura-Ogasawara M, Ozaki Y, Katano K, Suzumori N, Kitaori T, Mizutani E. Mizutani, Abnormal embryonic karyotype is the most frequent cause of recurrent miscarriage. Hum Reprod. 2012;27:2297–2303. doi: 10.1093/humrep/des179. - DOI - PubMed
    1. Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn. 2006;26:333–339. doi: 10.1002/pd.1411. - DOI - PubMed

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