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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalJournal of Assisted Reproduction and Genetics
DOIs
Publication statusAccepted/In press - Sep 30 2017

Fingerprint

Blastocyst
Chromosome Aberrations
Chromosomes
Pregnancy
Assisted Reproductive Techniques
Genetic Testing
Aneuploidy
Germ Cells
Technology
DNA

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

ASJC Scopus subject areas

  • Reproductive Medicine
  • Genetics
  • Obstetrics and Gynaecology
  • Developmental Biology
  • Genetics(clinical)

Cite this

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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.",
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author = "Lee, {Yi Xuan} and Chen, {Chien Wen} and Lin, {Yi Hui} and Tzeng, {Chii Ruey} and Chen, {Chi Huang}",
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AU - Lee, Yi Xuan

AU - Chen, Chien Wen

AU - Lin, Yi Hui

AU - Tzeng, Chii Ruey

AU - Chen, Chi Huang

PY - 2017/9/30

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N2 - 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.

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