Healthy live births after mosaic blastocyst transfers with the use of next-generation sequencing

Yung Liang Liu, Tzu Ning Yu, Ching Hui Chen, Peng Hui Wang, Chi Huang Chen, Chii Ruey Tzeng

Research output: Contribution to journalArticle

Abstract

Objective: To determine whether transfer of high-mosaicism (≥50%) embryos can result in healthy newborns. Case report: Two embryos resulting from controlled ovarian stimulation (COS) in Patient one, 41 years of age (y/o), underwent preimplantation genetic testing for aneuploidy (PGT-A), which demonstrated that one was mosaic (68%) and the other aneuploid; the mosaic embryo was transferred. Amniocentesis at 18 weeks of gestational age (GA) revealed a normal 46, XY karyotype. A phenotypically normal boy was delivered at 39 and 5/7 weeks of GA. For Patient two, 39 (y/o), nine embryos obtained after COS underwent PGT-A, indicating one euploid, four mosaic, and four aneuploid embryos. One euploid and one mosaic (50%) embryo were transferred, resulting in a twin pregnancy. Amniocentesis at 18 weeks of GA showed both fetuses had normal 46, XY karyotypes. Two phenotypically normal boys were delivered at 37 2/7 weeks of GA. Conclusion: Transfer of high-mosaicism embryos selected using current techniques can result in healthy euploid newborns. Amniocentesis suggested that mosaic embryos can be self-corrected before 18 weeks of GA.

Original languageEnglish
Pages (from-to)872-876
Number of pages5
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume58
Issue number6
DOIs
Publication statusPublished - Nov 2019

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Embryo Transfer
Live Birth
Embryonic Structures
Gestational Age
Aneuploidy
Amniocentesis
Mosaicism
Ovulation Induction
Genetic Testing
Karyotype
Newborn Infant
Twin Pregnancy
Fetus

Keywords

  • Aneuploidy
  • Euploidy
  • Mosaicism
  • Next-generation sequencing
  • Preimplantation genetic testing for aneuploidy

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

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title = "Healthy live births after mosaic blastocyst transfers with the use of next-generation sequencing",
abstract = "Objective: To determine whether transfer of high-mosaicism (≥50{\%}) embryos can result in healthy newborns. Case report: Two embryos resulting from controlled ovarian stimulation (COS) in Patient one, 41 years of age (y/o), underwent preimplantation genetic testing for aneuploidy (PGT-A), which demonstrated that one was mosaic (68{\%}) and the other aneuploid; the mosaic embryo was transferred. Amniocentesis at 18 weeks of gestational age (GA) revealed a normal 46, XY karyotype. A phenotypically normal boy was delivered at 39 and 5/7 weeks of GA. For Patient two, 39 (y/o), nine embryos obtained after COS underwent PGT-A, indicating one euploid, four mosaic, and four aneuploid embryos. One euploid and one mosaic (50{\%}) embryo were transferred, resulting in a twin pregnancy. Amniocentesis at 18 weeks of GA showed both fetuses had normal 46, XY karyotypes. Two phenotypically normal boys were delivered at 37 2/7 weeks of GA. Conclusion: Transfer of high-mosaicism embryos selected using current techniques can result in healthy euploid newborns. Amniocentesis suggested that mosaic embryos can be self-corrected before 18 weeks of GA.",
keywords = "Aneuploidy, Euploidy, Mosaicism, Next-generation sequencing, Preimplantation genetic testing for aneuploidy",
author = "Liu, {Yung Liang} and Yu, {Tzu Ning} and Chen, {Ching Hui} and Wang, {Peng Hui} and Chen, {Chi Huang} and Tzeng, {Chii Ruey}",
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AU - Yu, Tzu Ning

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AU - Wang, Peng Hui

AU - Chen, Chi Huang

AU - Tzeng, Chii Ruey

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AB - Objective: To determine whether transfer of high-mosaicism (≥50%) embryos can result in healthy newborns. Case report: Two embryos resulting from controlled ovarian stimulation (COS) in Patient one, 41 years of age (y/o), underwent preimplantation genetic testing for aneuploidy (PGT-A), which demonstrated that one was mosaic (68%) and the other aneuploid; the mosaic embryo was transferred. Amniocentesis at 18 weeks of gestational age (GA) revealed a normal 46, XY karyotype. A phenotypically normal boy was delivered at 39 and 5/7 weeks of GA. For Patient two, 39 (y/o), nine embryos obtained after COS underwent PGT-A, indicating one euploid, four mosaic, and four aneuploid embryos. One euploid and one mosaic (50%) embryo were transferred, resulting in a twin pregnancy. Amniocentesis at 18 weeks of GA showed both fetuses had normal 46, XY karyotypes. Two phenotypically normal boys were delivered at 37 2/7 weeks of GA. Conclusion: Transfer of high-mosaicism embryos selected using current techniques can result in healthy euploid newborns. Amniocentesis suggested that mosaic embryos can be self-corrected before 18 weeks of GA.

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