The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)
| Autor: | Zalihe Yarkiner, Meral Gultomruk, Lorena Rodrigo, Fazilet Kubra Boynukalin, Niyazi Emre Turgut, Carmen Rubio, Guvenc Karlikaya, Necati Findikli, Selen Ecemis, Mustafa Bahceci |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Pregnancy Rate Chromosomal translocation Fertilization in Vitro Biology Chromosomes Translocation Genetic DNA sequencing Andrology Young Adult 03 medical and health sciences 0302 clinical medicine Pregnancy Genetics medicine Humans Genetic Testing Preimplantation Diagnosis Genetics (clinical) Retrospective Studies Genetic testing Comparative Genomic Hybridization Ploidies 030219 obstetrics & reproductive medicine medicine.diagnostic_test Breakpoint High-Throughput Nucleotide Sequencing Obstetrics and Gynecology Chromosome Embryo General Medicine Embryo Transfer Blastocyst 030104 developmental biology Reproductive Medicine Chromosome Arm embryonic structures Female Ploidy Developmental Biology |
| Zdroj: | J Assist Reprod Genet |
| ISSN: | 1573-7330 1058-0468 |
| Popis: | PURPOSE: To evaluate the factors that affect the incidence of euploid balanced embryos and interchromosomal effect (ICE) in carriers of different structural rearrangements. METHODS: This retrospective study includes 95 couples with reciprocal translocations (RecT) and 36 couples with Robertsonian translocations (RobT) undergoing Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) between March 2016 and July 2019. Next-generation sequencing (NGS) was the technique used coupled with trophectoderm (TE) biopsy. Only cases with females under 38 years were included. A total of 532 blastocysts were evaluated. RESULTS: The euploidy rate was similar in RobT when compared with RecT carriers [57/156 (36.5%) vs. 112/376 (29.8%), p = 0.127]. The pure ICE rate was significantly higher in RobT carriers [48/156 (30.8%) vs. 53/376 (14.1%), p < 0.001] than it was in RecT carriers. Female age was the independent factor for the probability of obtaining a euploid embryo in RecT and RobT carriers, and increasing female age decreases the probability of obtaining a euploid embryo. In RecT carriers, no significant differences were observed in euploidy rates, pure ICE, or combined ICE according to the length of the translocated fragment and the chromosome group. However, total ICE was significantly lower when there was a breakpoint in the short chromosome arm together with a breakpoint in the long arm [(44/158 (27.8%) for pq or qp, 51/155 (32.9%) for pp and 30/63 (47.6%) for qq; p = 0.02]. CONCLUSION: The incidence of euploid/balanced blastocysts was similar in both types of translocations. However, there was a significant increase in pure ICE in RobT compared to RecT carriers. In RecT carriers, the presence of the breakpoints in the long arm of the chromosomes involved in the rearrangement resulted in a higher total ICE. |
| Databáze: | OpenAIRE |
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