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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.

Original publication




Journal article


Fertil Steril

Publication Date





1031 - 1036


Next-generation sequencing, aneuploidy screening, genotyping, preimplantation genetic diagnosis, semiconductor-based sequencer, Adult, Blastocyst, Blastomeres, Case-Control Studies, Diagnostic Tests, Routine, Embryo Transfer, Female, Fertilization in Vitro, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Pregnancy, Pregnancy Rate, Preimplantation Diagnosis