Feasibility study of using unbalanced embryos as a reference to distinguish euploid carrier from noncarrier embryos by single nucleotide polymorphism array for reciprocal translocations
| Autor: | Yanhong Zeng, Canquan Zhou, Ai-Ling Gu, Jiafu Pan, Yan Xu, Rong Li, Yuanlin Ma, Yanwen Xu, Jing Wang, Jing Guo |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Heterozygote animal structures Single-nucleotide polymorphism Prenatal diagnosis 030105 genetics & heredity Biology Polymorphism Single Nucleotide Translocation Genetic 03 medical and health sciences 0302 clinical medicine medicine Humans Genetic Testing Genetics (clinical) Genetic testing Genetics 030219 obstetrics & reproductive medicine medicine.diagnostic_test Haplotype Obstetrics and Gynecology Chromosome Karyotype Embryo Transfer embryonic structures Feasibility Studies Female Ploidy SNP array |
| Zdroj: | Prenatal Diagnosis. 41:681-689 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.5897 |
| Popis: | Objectives To study the feasibility of using unbalanced embryos as a reference in distinguishing euploid carrier and noncarrier embryos by single nucleotide polymorphism (SNP) array-based preimplantation genetic testing (PGT) for reciprocal translocations. Methods After comprehensive chromosome screening (CCS), euploid embryos were identified as normal or carriers using a family member as a reference. Next, unbalanced embryos were used as a reference, and the results were compared with the previous ones. Karyotypes of transferred embryos were validated by prenatal diagnosis. Results Of 995 embryos from 110 couples, 288 were found to be euploid. Using a family member as a reference, 142 and 144 embryos were tested to be euploid noncarrier and carrier respectively, and the remaining 2 embryos were undetermined. When unbalanced embryos were selected as references, all the results were consistent with the previous ones. A total of 107 embryos were transferred, resulting in 66 clinical pregnancies. Karyotypes of prenatal diagnosis were all in accordance with the results of tested embryos. Conclusions SNP array-based haplotyping is a rapid and effective way to distinguish between euploid carrier and noncarrier embryos. In case no family member is available as a reference, unbalanced embryos can be used for identification of euploid carrier and noncarrier embryos. |
| Databáze: | OpenAIRE |
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