Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles

Fertil Steril. 2018 Apr;109(4):627-632. doi: 10.1016/j.fertnstert.2017.12.017. Epub 2018 Mar 28.

Abstract

Objective: To evaluate whether the use of next generation sequencing (NGS) for preimplantation genetic screening (PGS) in single thawed euploid embryo transfer (STEET) cycles improves pregnancy outcomes compared with array comparative genomic hybridization (aCGH).

Design: Retrospective cohort study.

Setting: Single university-based fertility center.

Patient(s): A total of 916 STEET cycles from January 2014 to December 2016 were identified. Cases included 548 STEET cycles using NGS for PGS and controls included 368 STEET cycles using aCGH for PGS.

Intervention(s): Patients having a STEET after undergoing IVF and PGS with either NGS or aCGH.

Main outcome measure(s): Primary outcomes were implantation rate, ongoing pregnancy/live birth rate (OP/LBR), biochemical pregnancy rate (PR), and spontaneous abortion (SAB) rate.

Result(s): The implantation rate was significantly higher in the NGS group compared with the aCGH group (71.6% vs. 64.6%). The OP/LBR was also significantly higher in the NGS group (62% vs. 54.4%), and there were significantly more biochemical pregnancies in the aCGH group compared with the NGS group (15.1% vs. 8.7%). After adjustment for confounding variables with a multiple logistic regression analysis, OP/LBR remained significantly higher in the NGS group. The SAB rate was not significantly different in the NGS group compared with the aCGH group (12.4% vs. 12.7%).

Conclusion(s): Preimplantation genetic screening using NGS significantly improves pregnancy outcomes versus PGS using aCGH in STEET cycles. Next-generation sequencing has the ability to identify and screen for embryos with reduced viability such as mosaic embryos and those with partial aneuploidies or triploidy. Pregnancy outcomes with NGS may be improved due to the exclusion of these abnormal embryos.

Keywords: Next generation sequencing; array comparative genomic hybridization; mosaicism; preimplantation genetic screening.

Publication types

  • Comparative Study

MeSH terms

  • Abortion, Spontaneous / etiology
  • Abortion, Spontaneous / genetics
  • Adult
  • Blastocyst / pathology*
  • Comparative Genomic Hybridization*
  • Cryopreservation*
  • Embryo Implantation
  • Female
  • Fertility
  • Fertilization in Vitro* / adverse effects
  • Genetic Testing / methods*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Infertility / diagnosis
  • Infertility / genetics
  • Infertility / physiopathology
  • Infertility / therapy*
  • Live Birth
  • Mosaicism
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis / methods*
  • Reproducibility of Results
  • Retrospective Studies
  • Single Embryo Transfer* / adverse effects
  • Treatment Outcome