Divyesh Upadhyay B.S. , Rajia Al Halaby M.D. , Sudha Anandt Ph.D. , Firas Albuz Ph.D. , Merlin Mary Varghese M.S. , Braulio Peramo M.D.
{"title":"对复杂染色体重排和反复体外受精失败的夫妇进行结构重排的植入前基因检测后成功妊娠一例报告。","authors":"Divyesh Upadhyay B.S. , Rajia Al Halaby M.D. , Sudha Anandt Ph.D. , Firas Albuz Ph.D. , Merlin Mary Varghese M.S. , Braulio Peramo M.D.","doi":"10.1016/j.xfre.2024.10.006","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.</div></div><div><h3>Design</h3><div>Case report.</div></div><div><h3>Setting</h3><div>Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.</div></div><div><h3>Patients</h3><div>A 40-year-old male patient and a 37-year-old female patient with a history of infertility and recurrent IVF failures.</div></div><div><h3>Exposure</h3><div>In vitro fertilization-intracytoplasmic sperm injection with high-resolution karyotype and PGT-SR.</div></div><div><h3>Main Outcome Measures</h3><div>Identification of chromosomal abnormalities, successful embryo development, pregnancy outcome, and newborn karyotyping.</div></div><div><h3>Results</h3><div>Karyotyping revealed a paternal complex chromosome rearrangement, t(3;4;12) (q21;q33;q21), and a chromosomal polymorphism in the female (1qh+). In vitro fertilization-intracytoplasmic sperm injection with PGT-SR produced one euploid/balanced female embryo from 20 embryos across 8 cycles. The patient conceived after hormone replacement therapy and frozen embryo transfer, resulting in an uneventful, full-term pregnancy and delivery of a healthy baby via C-section. Newborn karyotyping was normal (46,XX).</div></div><div><h3>Conclusion</h3><div>High-resolution karyotype and PGT-SR should be offered to patients undergoing IVF, especially those with severe male factors, recurrent IVF failures, implantation failures, or recurrent pregnancy losses, to enhance the chances of a successful pregnancy.</div></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"5 4","pages":"Pages 439-452"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705569/pdf/","citationCount":"0","resultStr":"{\"title\":\"Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report\",\"authors\":\"Divyesh Upadhyay B.S. , Rajia Al Halaby M.D. , Sudha Anandt Ph.D. , Firas Albuz Ph.D. , Merlin Mary Varghese M.S. , Braulio Peramo M.D.\",\"doi\":\"10.1016/j.xfre.2024.10.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><div>To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.</div></div><div><h3>Design</h3><div>Case report.</div></div><div><h3>Setting</h3><div>Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.</div></div><div><h3>Patients</h3><div>A 40-year-old male patient and a 37-year-old female patient with a history of infertility and recurrent IVF failures.</div></div><div><h3>Exposure</h3><div>In vitro fertilization-intracytoplasmic sperm injection with high-resolution karyotype and PGT-SR.</div></div><div><h3>Main Outcome Measures</h3><div>Identification of chromosomal abnormalities, successful embryo development, pregnancy outcome, and newborn karyotyping.</div></div><div><h3>Results</h3><div>Karyotyping revealed a paternal complex chromosome rearrangement, t(3;4;12) (q21;q33;q21), and a chromosomal polymorphism in the female (1qh+). In vitro fertilization-intracytoplasmic sperm injection with PGT-SR produced one euploid/balanced female embryo from 20 embryos across 8 cycles. The patient conceived after hormone replacement therapy and frozen embryo transfer, resulting in an uneventful, full-term pregnancy and delivery of a healthy baby via C-section. Newborn karyotyping was normal (46,XX).</div></div><div><h3>Conclusion</h3><div>High-resolution karyotype and PGT-SR should be offered to patients undergoing IVF, especially those with severe male factors, recurrent IVF failures, implantation failures, or recurrent pregnancy losses, to enhance the chances of a successful pregnancy.</div></div>\",\"PeriodicalId\":34409,\"journal\":{\"name\":\"FS Reports\",\"volume\":\"5 4\",\"pages\":\"Pages 439-452\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705569/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"FS Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2666334124001193\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"FS Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2666334124001193","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report
Objective
To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.
Design
Case report.
Setting
Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.
Patients
A 40-year-old male patient and a 37-year-old female patient with a history of infertility and recurrent IVF failures.
Exposure
In vitro fertilization-intracytoplasmic sperm injection with high-resolution karyotype and PGT-SR.
Main Outcome Measures
Identification of chromosomal abnormalities, successful embryo development, pregnancy outcome, and newborn karyotyping.
Results
Karyotyping revealed a paternal complex chromosome rearrangement, t(3;4;12) (q21;q33;q21), and a chromosomal polymorphism in the female (1qh+). In vitro fertilization-intracytoplasmic sperm injection with PGT-SR produced one euploid/balanced female embryo from 20 embryos across 8 cycles. The patient conceived after hormone replacement therapy and frozen embryo transfer, resulting in an uneventful, full-term pregnancy and delivery of a healthy baby via C-section. Newborn karyotyping was normal (46,XX).
Conclusion
High-resolution karyotype and PGT-SR should be offered to patients undergoing IVF, especially those with severe male factors, recurrent IVF failures, implantation failures, or recurrent pregnancy losses, to enhance the chances of a successful pregnancy.
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