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) a...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | F&S Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666334124001193 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Divyesh Upadhyay, B.S. |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7d702423a17e44e9bcd547a8970bbe8b |
| institution | OA Journals |
| issn | 2666-3341 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | F&S Reports |
| spelling | doaj-art-7d702423a17e44e9bcd547a8970bbe8b2025-08-20T02:37:42ZengElsevierF&S Reports2666-33412024-12-015443945210.1016/j.xfre.2024.10.006Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case reportDivyesh Upadhyay, B.S.0Rajia Al Halaby, M.D.1Sudha Anandt, Ph.D.2Firas Albuz, Ph.D.3Merlin Mary Varghese, M.S.4Braulio Peramo, M.D.5Clinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab EmiratesClinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab EmiratesGenetics Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab EmiratesIVF Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab EmiratesGenetics Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab EmiratesClinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab Emirates; Correspondence: Braulio Peramo, M.D., Clinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab Emirates.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.http://www.sciencedirect.com/science/article/pii/S2666334124001193Complex chromosome rearrangement (CCR)intracytoplasmic sperm injection (ICSI)preimplantation genetic testing for structural rearrangements (PGT-SR)fertility managementrecurrent IVF failures |
| spellingShingle | 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. 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 F&S Reports Complex chromosome rearrangement (CCR) intracytoplasmic sperm injection (ICSI) preimplantation genetic testing for structural rearrangements (PGT-SR) fertility management recurrent IVF failures |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Complex chromosome rearrangement (CCR) intracytoplasmic sperm injection (ICSI) preimplantation genetic testing for structural rearrangements (PGT-SR) fertility management recurrent IVF failures |
| url | http://www.sciencedirect.com/science/article/pii/S2666334124001193 |
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