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J Assist Reprod Genet. 2018 Jan;35(1):171-176. doi: 10.1007/s10815-017-1044-x. Epub 2017 Sep 30.

Prediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss.

Author information

1
Division of Infertility, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No.250, Wusing St., Sinyi District, Taipei City, 110, Taiwan.
2
Department of Obstetrics and Gynecology, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan.
3
Department of Obstetrics and Gynecology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
4
Genetics Generation Advancement Corperation (GGA Corp.), Taipei, Taiwan.
5
Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
6
Division of Infertility, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No.250, Wusing St., Sinyi District, Taipei City, 110, Taiwan. d102095012@gmail.com.
7
Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. d102095012@gmail.com.

Abstract

Preimplantation genetic testing has been used widely in recent years as a part of assisted reproductive technology (ART) owing to the breakthrough development of deoxyribonucleic acid (DNA) sequencing. With the advancement of technology and increased resolution of next generation sequencing (NGS), extensive comprehensive chromosome screening along with small clinically significant deletions and duplications can possibly be performed simultaneously. Here, we present a case of rare chromosomal aberrations: 46,XY,dup(15)(q11.2q13),t(16;18)(q23;p11.2), which resulted in a normally developed adult but abnormal gametes leading to recurrent pregnancy loss (RPL). To our best knowledge, this is the first report of t(16;18) translocation with such a small exchanged segment detected by NGS platform of MiSeq system in simultaneous 24-chromosome aneuploidy screening.

KEYWORDS:

Assisted reproductive technology; Balanced reciprocal translocation; Chromosomal aberrations; Chromosome segmental imbalances; Comprehensive chromosome screening; Next generation sequencing; Preimplantation genetic diagnosis; Preimplantation genetic screening; Recurrent pregnancy loss

PMID:
28965243
PMCID:
PMC5758467
DOI:
10.1007/s10815-017-1044-x
[Indexed for MEDLINE]
Free PMC Article

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