Journal of Human Reproductive Science
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Year : 2014  |  Volume : 7  |  Issue : 4  |  Page : 262-268
Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience

Department of Pathology and Laboratory Medicine, Cytogenetics Laboratory, Weill Cornell Medical College/New York Presbyterian Hospital, New York, NY 10065, USA

Correspondence Address:
Shivakumar Subramaniyam
Department of Pathology and Laboratory Medicine, Cytogenetics Laboratory, Weill-Cornell Medical College/New York Presbyterian Hospital, 1300 York Avenue, Room F511, New York, NY 10065
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-1208.147494

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Objective: To characterize double and multiple aneuploidies in spontaneous abortions (SAB). Materials and Methods: Retrospective analysis of cytogenetics data obtained by culturing/harvesting products of the conception material at our center from 2006 to 2009 was performed. The abnormal cytogenetic results, maternal age, gestational age, and previous pregnancy history were recorded and compared. Results: Double and multiple aneuploidies are rare, however, a high percentage of double (4.6%) and multiple (0.4%) chromosomal aneuploidies were observed in our study of 1502 cases of SAB. Of 1502 cases of SAB evaluated, 70 cases (4.6%) showed double aneuploidy, whereas 6 cases (0.4%) had multiple aneuploidies. The chromosomes most frequently involved in double aneuploidy in the decreasing order were 21, 16, ± X, 22, 18, 13, and 15. The most frequent chromosome combinations observed were: Loss of X/21 (8.5%), 21/22 (4.4%), 16/21 (4.4%), and 7/16 (4.4%). The chromosome combinations in multiple aneuploidy included trisomy of chromosomes X/5/8, 8/20/22, 16/20/22, 14/21/22, and loss of X with 21/21 and 7/21. These abnormalities were significantly observed in women between the age group 40-44 years (59.2%). A high success rate (94%) of obtaining metaphase cells was observed in this study mainly due to the use of direct and long-term cultures. Conclusions: We observed a high percentage of double (4.6%) and multiple (0.4%) aneuploidies, frequently involving the acrocentic chromosomes 13, 15, 21, and 22 and nonacrocentric chromosomes X, 16, and 18.

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