Krzysztof Łukaszuk1, Sebastian Pukszta2, Dagan Wells3, Celina Cybulska2, Joanna Liss2, Łukasz Płóciennik2, Waldemar Kuczyński4, Judyta Zabielska2. 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.
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.