#104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients

Background and Aims: Thalassemia is a hereditary blood disorder with diverse clinical manifestation inherited by autosomal recessive manner which affected 1.5% of the population. Clinically, there are two major forms: [Formula: see text]-thalassemia and [Formula: see text]-thalassemia. Palliative tr...

Full description

Bibliographic Details
Main Authors: Lan Tram Ho, Tam Luu, Cam Tran, Nhung Nguyen, Anh Le, Tri Nguyen, Mai Ma, Vu Ho, Anh Ha, Tuong Ho
Format: Article
Language:English
Published: World Scientific Publishing 2023-12-01
Series:Fertility & Reproduction
Online Access:https://www.worldscientific.com/doi/10.1142/S2661318223743345
_version_ 1827304110126268416
author Lan Tram Ho
Tam Luu
Cam Tran
Nhung Nguyen
Anh Le
Tri Nguyen
Mai Ma
Vu Ho
Anh Ha
Tuong Ho
author_facet Lan Tram Ho
Tam Luu
Cam Tran
Nhung Nguyen
Anh Le
Tri Nguyen
Mai Ma
Vu Ho
Anh Ha
Tuong Ho
author_sort Lan Tram Ho
collection DOAJ
description Background and Aims: Thalassemia is a hereditary blood disorder with diverse clinical manifestation inherited by autosomal recessive manner which affected 1.5% of the population. Clinically, there are two major forms: [Formula: see text]-thalassemia and [Formula: see text]-thalassemia. Palliative treatment of the severe forms by blood transfusion is eventually compromised by the concomitant problems of iron overload, alloimmunization, and bloodborne infections. In Vietnam, there are approximately 13.8% cases of thalassemia carriers in the entire population. PGT-M aims to characterize the genetic status of embryos resulting from in vitro fertilization (IVF) cycles. Herein, we report the clinical outcome of using PGT-M in couples who are thalassemia carriers. Methods: This was a case series report conducted at IVFMD, My Duc Hospital, Vietnam between April 2019 and April 2022. A total of 38 couples who underwent IVF cycle in combination with PGT-M were enrolled in this study. Trophectoderm biopsy samples undergone whole-genome amplification, followed by next-generation sequencing (NGS) via the MiSeq platform for aneuploidy screening. Specific-targeted genes were performed for thalassemia detection in the next step. Results: PGT-M was performed on a total of 128 blastocysts from 38 couples. Among 128 blastocysts, 92 (71.9%) were euploid. The rate of unaffected blastocysts was 38.0% and heterozygous blastocysts was 27.2% among euploid blastocysts. Single blastocyst transfer was performed in 30 couples and underwent 34 cycles. The clinical pregnancy rate was 50.0% and the overall live birth rate was 41.2%. Conclusion: Data from this study showed a favorable live birth rate after PGT-M for thalassemia. We should encourage carrier couples to undergo PGT-M to eliminate the transfer of this disorder through the next generation.
first_indexed 2024-04-24T17:13:17Z
format Article
id doaj.art-f0fe08d5d7cd400d906da8fc056878d4
institution Directory Open Access Journal
issn 2661-3182
2661-3174
language English
last_indexed 2024-04-24T17:13:17Z
publishDate 2023-12-01
publisher World Scientific Publishing
record_format Article
series Fertility & Reproduction
spelling doaj.art-f0fe08d5d7cd400d906da8fc056878d42024-03-28T07:54:19ZengWorld Scientific PublishingFertility & Reproduction2661-31822661-31742023-12-01050459759810.1142/S2661318223743345#104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese PatientsLan Tram Ho0Tam Luu1Cam Tran2Nhung Nguyen3Anh Le4Tri Nguyen5Mai Ma6Vu Ho7Anh Ha8Tuong Ho9My Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamHOPE Research Center, Ho Chi Minh City, VietnamHOPE Research Center, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamMy Duc Hospital, Ho Chi Minh City, VietnamBackground and Aims: Thalassemia is a hereditary blood disorder with diverse clinical manifestation inherited by autosomal recessive manner which affected 1.5% of the population. Clinically, there are two major forms: [Formula: see text]-thalassemia and [Formula: see text]-thalassemia. Palliative treatment of the severe forms by blood transfusion is eventually compromised by the concomitant problems of iron overload, alloimmunization, and bloodborne infections. In Vietnam, there are approximately 13.8% cases of thalassemia carriers in the entire population. PGT-M aims to characterize the genetic status of embryos resulting from in vitro fertilization (IVF) cycles. Herein, we report the clinical outcome of using PGT-M in couples who are thalassemia carriers. Methods: This was a case series report conducted at IVFMD, My Duc Hospital, Vietnam between April 2019 and April 2022. A total of 38 couples who underwent IVF cycle in combination with PGT-M were enrolled in this study. Trophectoderm biopsy samples undergone whole-genome amplification, followed by next-generation sequencing (NGS) via the MiSeq platform for aneuploidy screening. Specific-targeted genes were performed for thalassemia detection in the next step. Results: PGT-M was performed on a total of 128 blastocysts from 38 couples. Among 128 blastocysts, 92 (71.9%) were euploid. The rate of unaffected blastocysts was 38.0% and heterozygous blastocysts was 27.2% among euploid blastocysts. Single blastocyst transfer was performed in 30 couples and underwent 34 cycles. The clinical pregnancy rate was 50.0% and the overall live birth rate was 41.2%. Conclusion: Data from this study showed a favorable live birth rate after PGT-M for thalassemia. We should encourage carrier couples to undergo PGT-M to eliminate the transfer of this disorder through the next generation.https://www.worldscientific.com/doi/10.1142/S2661318223743345
spellingShingle Lan Tram Ho
Tam Luu
Cam Tran
Nhung Nguyen
Anh Le
Tri Nguyen
Mai Ma
Vu Ho
Anh Ha
Tuong Ho
#104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
Fertility & Reproduction
title #104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
title_full #104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
title_fullStr #104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
title_full_unstemmed #104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
title_short #104 : Live Birth Rate After Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Thalassemia in Vietnamese Patients
title_sort 104 live birth rate after preimplantation genetic testing for monogenic disorders pgt m for thalassemia in vietnamese patients
url https://www.worldscientific.com/doi/10.1142/S2661318223743345
work_keys_str_mv AT lantramho 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT tamluu 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT camtran 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT nhungnguyen 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT anhle 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT tringuyen 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT maima 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT vuho 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT anhha 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients
AT tuongho 104livebirthrateafterpreimplantationgenetictestingformonogenicdisorderspgtmforthalassemiainvietnamesepatients