Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study
| Autor: | Simone Palini, Katharina Figl, Luca Carli, Elisabeth Wallner, Ulrike Mädel, Enrico Vaccari, Wilfried Feichtinger, Michael Feichtinger |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_treatment Concordance Pilot Projects Polar Bodies Biology Proof of Concept Study Intracytoplasmic sperm injection 03 medical and health sciences Polar body 0302 clinical medicine medicine Humans Advanced maternal age Blastocyst Preimplantation Diagnosis Genetics Comparative Genomic Hybridization Ploidies 030219 obstetrics & reproductive medicine Obstetrics and Gynecology Embryo 030104 developmental biology medicine.anatomical_structure Reproductive Medicine Culture Media Conditioned embryonic structures Ploidy Developmental Biology Comparative genomic hybridization |
| Zdroj: | Reproductive BioMedicine Online. 34:583-589 |
| ISSN: | 1472-6483 |
| DOI: | 10.1016/j.rbmo.2017.03.015 |
| Popis: | The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed. Thirteen out of 18 samples (72.2%) revealed general concordance of ploidy status (euploid or aneuploid). At least one chromosomal aberration was found concordant in 10 out of 15 embryos found to be aneuploid by both polar body and culture media analysis. Overall, 17 out of 35 (48.6%) single chromosomal aneuploidies were concordant between the culture media and polar body analysis. By analysing negative controls (oocytes with fertilization failure), notable maternal contamination was observed. Therefore, non-invasive PGS could serve as a second matrix after polar body or cleavage stage PGS; however, in euploid results, maternal contamination needs to be considered and results interpreted with caution. |
| Databáze: | OpenAIRE |
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