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Fertil Steril. 2015 Apr;103(4):1031-6. doi: 10.1016/j.fertnstert.2014.12.123. Epub 2015 Jan 24.

Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles.

Author information

1
INVICTA Fertility and Reproductive Center, Gdansk, Poland; INVICTA Fertility and Reproductive Center, Warsaw, Poland; Department of Obstetrics and Gynecological Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland. Electronic address: sekretariatlukaszuk@invicta.pl.
2
INVICTA Fertility and Reproductive Center, Gdansk, Poland.
3
Reprogenetics UK, Institute of Reproductive Sciences, Oxford Business Park, Oxford, United Kingdom; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
4
Centre for Reproductive Medicine KRIOBANK, Białystok, Poland; Department of Gynecology and Oncological Gynecology, Medical University of Białystok, Bialystok, Poland.

Abstract

OBJECTIVE:

To determine the usefulness of semiconductor-based next-generation sequencing (NGS) for cleavage-stage preimplantation genetic diagnosis (PGD) of aneuploidy.

DESIGN:

Prospective case-control study.

SETTING:

A private center for reproductive medicine.

PATIENT(S):

A total of 45 patients underwent day-3 embryo biopsy with PGD and fresh cycle transfer. Additionally, 53 patients, matched according to age, anti-Müllerian hormone levels, antral follicles count, and infertility duration were selected as controls.

INTERVENTION(S):

Choice of embryos for transfer was based on the PGD NGS results.

MAIN OUTCOME MEASURE(S):

Clinical pregnancy rate (PR) per embryo transfer (ET) was the primary outcome. Secondary outcomes were implantation and miscarriage rates.

RESULT(S):

The PR per transfer was higher in the NGS group (84.4% vs. 41.5%). The implantation rate (61.5% vs. 34.8%) was higher in the NGS group. The miscarriage rate was similar in the 2 groups (2.8% vs. 4.6%).

CONCLUSION(S):

We demonstrate the technical feasibility of NGS-based PGD involving cleavage-stage biopsy and fresh ETs. Encouraging data were obtained from a prospective trial using this approach, arguing that cleavage-stage NGS may represent a valuable addition to current aneuploidy screening methods. These findings require further validation in a well-designed randomized controlled trial.

CLINICAL TRIAL REGISTRATION NUMBER:

ACTRN12614001035617.

KEYWORDS:

Next-generation sequencing; aneuploidy screening; genotyping; preimplantation genetic diagnosis; semiconductor-based sequencer

[Indexed for MEDLINE]

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