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\u672c\u7bc7\u767c\u8868\u5728\u570b\u5916\u5f71\u97ff\u56e0\u5b502.163\u7684\u671f\u520aJ Assist Reprod Genet. 2017 Sep 30.<\/span>
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Title
\nPrediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss<\/span>
\nAuthor
\nLee YX1, Chen CW1,2, Lin YH3,4, Tzeng CR1,5,\u00a0CHEN CH 6,7<\/span>
\nAbstract 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
\nscreening 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.<\/p>\n

\"NGS<\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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