Next generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages

被引：11

作者：

Lukaszuk, Krzysztof ^{[1
,2
]}

Jakiel, Grzegorz ^{[1
,3
]}

Kuczynski, Waldemar ^{[4
,5
]}

Pukszta, Sebastian ^{[1
]}

Liss, Joanna ^{[1
]}

Plociennik, Lukasz ^{[1
]}

Lukaszuk, Aron ^{[1
]}

Pastuszek, Ewa ^{[1
]}

机构：

[1] Invicta Fertil & Reprod Ctr, Wroclaw, Poland

[2] Med Univ Gdansk, Dept Obstet & Gynecol Nursing, Fac Hlth Sci, Gdansk, Poland

[3] Med Ctr Postgrad Educ, Dept Obstet & Gynaecol, Warsaw, Poland

[4] Med Univ Bialystok, Dept Gynecol & Oncol Gynecol, Bialystok, Poland

[5] KRIOBANK, Ctr Reprod Med, Bialystok, Poland

来源：

ANNALS OF AGRICULTURAL AND ENVIRONMENTAL MEDICINE | 2016年 / 23卷 / 01期

关键词：

Preimplantation genetic diagnosis (PGD); next generation sequencing (NGS); blastocyst; IN-VITRO FERTILIZATION; CHROMOSOMAL-ABNORMALITIES; EMBRYO DEVELOPMENT; LIVE BIRTH; DIAGNOSIS; TECHNOLOGY; MORPHOLOGY; SELECTION; IMPACT;

D O I：

10.5604/12321966.1196874

中图分类号：

X [环境科学、安全科学];

学科分类号：

08 ; 0830 ;

摘要：

Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women's age. Between August-December 2013, 198 blastocysts from women (mean age 36.3+-4.6) undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies). The results were analyzed in five age groups (<31, 31-35, 36-38, 39-40 and >40). 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group): <31 (41.9%), 31-35 (47.6%), 36-38 (47.8%), 39-40 (37.7%) and >40 (38.5%). Our study suggests that NGS PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedure for each individual patient making personalized diagnostics a reality.

引用

页码：163 / 166

页数：4

共 17 条

[1] The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender [J].