胚胎著床前基因篩檢(PGS)的進階版(NGS)診斷出極小的染色體平衡轉位,經植入正常胚胎一顆健康足月活產,解決了五次習慣性流產。

本篇發表在國外影響因子2.163的期刊J Assist Reprod Genet. 2017 Sep 30.
寶醫師身為該患者的主治醫師擔責任作者,指導李怡萱醫師投稿刊登。李怡萱醫師在本篇論文的激勵下發奮考取台北醫學大學臨床醫學研究所博士班預攻讀基因醫學

中文題目
同時預測罕見的染色體畸變與次世代(NGS)基於序列的綜合人類植入前胚胎(PGS)中的染色體篩選於習慣性流產

中文摘要
摘要採用植入前基因檢測方法,近年來廣泛作為輔助生殖技術的一部分。由於脫氧核糖核酸的突破性發展酸(DNA)測序。隨著進步的技術,並提高下一代的分辨率測序(NGS),廣泛的全面染色體篩查以及小的臨床重大缺失並且可以同時執行重複。在這裡,我們提出罕見染色體畸變的病例:46,XY,dup(15)(q11.2q13),t(16; 18)(q23; p11.2),其中導致正常發育的成人但異常配子
導致復發性懷孕(RPL)。據我們所知,這是t(16; 18)易位的第一次報告。由NGS平台檢測到的小交換段MiSeq系統同時24染色體非整倍體

原文版

Title
Prediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss
Author
Lee YX1, Chen CW1,2, Lin YH3,4, Tzeng CR1,5, CHEN CH 6,7
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.

NGS publised 2017