title: Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles.
abstract: OBJECTIVE
  To determine the usefulness of semiconductor-based next-generation sequencing (NGS) for cleavage-stage preimplantation genetic diagnosis (PGD) of aneuploidy.
  
  
  METHODS
  Prospective case-control study.
  
  
  METHODS
  A private center for reproductive medicine.
  
  
  METHODS
  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.
  
  
  METHODS
  Choice of embryos for transfer was based on the PGD NGS results.
  
  
  METHODS
  Clinical pregnancy rate (PR) per embryo transfer (ET) was the primary outcome. Secondary outcomes were implantation and miscarriage rates.
  
  
  RESULTS
  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%).
  
  
  CONCLUSIONS
  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.
  
  
  BACKGROUND
  ACTRN12614001035617.
authors.affiliation: 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.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Łukaszuk
authors.affiliation: INVICTA Fertility and Reproductive Center, Gdansk, Poland.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Pukszta
authors.affiliation: 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.
authors.forename: Dagan
authors.initials: D
authors.lastname: Wells
authors.affiliation: INVICTA Fertility and Reproductive Center, Gdansk, Poland.
authors.forename: Celina
authors.initials: C
authors.lastname: Cybulska
authors.affiliation: INVICTA Fertility and Reproductive Center, Gdansk, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Liss
authors.affiliation: INVICTA Fertility and Reproductive Center, Gdansk, Poland.
authors.forename: Łukasz
authors.initials: Ł
authors.lastname: Płóciennik
authors.affiliation: Centre for Reproductive Medicine KRIOBANK, Białystok, Poland; Department of Gynecology and Oncological Gynecology, Medical University of Białystok, Bialystok, Poland.
authors.forename: Waldemar
authors.initials: W
authors.lastname: Kuczyński
authors.affiliation: INVICTA Fertility and Reproductive Center, Gdansk, Poland.
authors.forename: Judyta
authors.initials: J
authors.lastname: Zabielska
mesh_terms: D000328:Adult; D001755:Blastocyst / Q000166:cytology* / Q000378:metabolism; D001757:Blastomeres / Q000166:cytology / Q000378:metabolism*; D016022:Case-Control Studies; D003955:Diagnostic Tests, Routine / Q000379:methods / Q000706:statistics & numerical data; D004624:Embryo Transfer / Q000706:statistics & numerical data; D005260:Female; D005307:Fertilization in Vitro / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000379:methods* / Q000706:statistics & numerical data; D059014:High-Throughput Nucleotide Sequencing / Q000706:statistics & numerical data; D006801:Humans; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000009:adverse effects / Q000379:methods* / Q000706:statistics & numerical data
keywords: Next-generation sequencing; aneuploidy screening; genotyping; preimplantation genetic diagnosis; semiconductor-based sequencer