N De Munck1, A Bayram2, I Elkhatib2, A Liñán2, A Arnanz2, L Melado2, B Lawrenz2,3, M H Fatemi2. 1. ART Fertility Clinics, Abu Dhabi, United Arab Emirates. Neelke.DeMunck@artfertilityclinics.com. 2. ART Fertility Clinics, Abu Dhabi, United Arab Emirates. 3. Obstetrical Department, Women´s University Hospital Tübingen, Tübingen, Germany.
Abstract
PURPOSE: To verify which genetic abnormalities prevent embryos to blastulate in a stage-specific time. METHODS: A single center retrospective study was performed between April 2016 and January 2017. Patients requiring Preimplantation Genetic Testing for Aneuploidies (PGT-A) by Next Generation Sequencing (NGS) were included. All embryos were cultured in a time-lapse imaging system and single blastomere biopsy was performed on day 3 of development. Segmental duplications and deletions as well as whole chromosome monosomies and trisomies were registered. Embryo arrest was defined if the embryo failed to blastulate 118 h post-injection. A logistic regression model was applied using the time to blastulate as the response variable and the different mutations as explanatory variables. A p value < 0.05 was considered significant. RESULTS: Of the 285 biopsied cleavage stage embryos, 103 (36.1%) were euploid, and 182 (63.9%) were aneuploid. There was a significant difference in the developmental arrest between euploid and aneuploid embryos (8.7% versus 42.9%; p = 0.0001). Segmental duplications and whole chromosome monosomies were found to have a significant effect on developmental arrest (p = 0.0163 and p = 0.0075), while trisomies and segmental deletions had no effect on developmental arrest. In case of segmental duplications, an increase of one extra segmental duplication increases the odd of arrest by 159%. For whole chromosome monosomies, the odd will only increase by 29% for every extra chromosomal monosomy. Both chromosomal abnormalities remained significant after adding age as an explanatory variable to the model (p = 0.014 and p = 0.009). CONCLUSION: Day 3 cleavage stage embryos with segmental duplications or monosomies have a significantly decreased chance to reach the blastocyst stage.
PURPOSE: To verify which genetic abnormalities prevent embryos to blastulate in a stage-specific time. METHODS: A single center retrospective study was performed between April 2016 and January 2017. Patients requiring Preimplantation Genetic Testing for Aneuploidies (PGT-A) by Next Generation Sequencing (NGS) were included. All embryos were cultured in a time-lapse imaging system and single blastomere biopsy was performed on day 3 of development. Segmental duplications and deletions as well as whole chromosome monosomies and trisomies were registered. Embryo arrest was defined if the embryo failed to blastulate 118 h post-injection. A logistic regression model was applied using the time to blastulate as the response variable and the different mutations as explanatory variables. A p value < 0.05 was considered significant. RESULTS: Of the 285 biopsied cleavage stage embryos, 103 (36.1%) were euploid, and 182 (63.9%) were aneuploid. There was a significant difference in the developmental arrest between euploid and aneuploid embryos (8.7% versus 42.9%; p = 0.0001). Segmental duplications and whole chromosome monosomies were found to have a significant effect on developmental arrest (p = 0.0163 and p = 0.0075), while trisomies and segmental deletions had no effect on developmental arrest. In case of segmental duplications, an increase of one extra segmental duplication increases the odd of arrest by 159%. For whole chromosome monosomies, the odd will only increase by 29% for every extra chromosomal monosomy. Both chromosomal abnormalities remained significant after adding age as an explanatory variable to the model (p = 0.014 and p = 0.009). CONCLUSION: Day 3 cleavage stage embryos with segmental duplications or monosomies have a significantly decreased chance to reach the blastocyst stage.
Authors: Santiago Munné; Muhterem Bahçe; Mireia Sandalinas; Tomás Escudero; Carmen Márquez; Esther Velilla; Pere Colls; Maria Oter; Mina Alikani; Jacques Cohen Journal: Reprod Biomed Online Date: 2004-01 Impact factor: 3.828
Authors: M Popovic; L Dhaenens; J Taelman; A Dheedene; M Bialecka; P De Sutter; S M Chuva de Sousa Lopes; B Menten; B Heindryckx Journal: Hum Reprod Date: 2019-04-01 Impact factor: 6.918
Authors: B Lawrenz; I El Khatib; A Liñán; A Bayram; A Arnanz; R Chopra; N De Munck; H M Fatemi Journal: Hum Reprod Date: 2019-06-04 Impact factor: 6.918
Authors: Man Li; Catherine Marin DeUgarte; Mark Surrey; Hal Danzer; Alan DeCherney; David L Hill Journal: Fertil Steril Date: 2005-11 Impact factor: 7.329