Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism

The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells and have historically been deselected from tran...

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Veröffentlicht in:Human reproduction (Oxford) 2023-02, Vol.38 (2), p.315-323
Hauptverfasser: Greco, Ermanno, Yakovlev, Pavel, Kornilov, Nikolay, Vyatkina, Svetlana, Bogdanova, Daria, Ermakova, Marina, Tarasova, Yulia, Tikhonov, Andrei, Pendina, Anna, Biricik, Anil, Sessa, Maria Teresa, Listorti, Ilaria, Ronsini, Carlo, Greco, Pier Francesco, Victor, Andrea, Barnes, Frank, Zouves, Christo, Spinella, Francesca, Viotti, Manuel
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container_title Human reproduction (Oxford)
container_volume 38
creator Greco, Ermanno
Yakovlev, Pavel
Kornilov, Nikolay
Vyatkina, Svetlana
Bogdanova, Daria
Ermakova, Marina
Tarasova, Yulia
Tikhonov, Andrei
Pendina, Anna
Biricik, Anil
Sessa, Maria Teresa
Listorti, Ilaria
Ronsini, Carlo
Greco, Pier Francesco
Victor, Andrea
Barnes, Frank
Zouves, Christo
Spinella, Francesca
Viotti, Manuel
description The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells and have historically been deselected from transfer and grouped with uniformly aneuploid embryos as 'abnormal'. In recent years, numerous groups have reported the intentional transfer of mosaic embryos in the absence of uniformly euploid embryos, largely observing births of seemingly healthy babies. However, it remains to be understood whether the embryonic mosaicism invariably becomes resolved during the ensuing pregnancy, or whether the placenta and/or fetal tissues retain aneuploid cells, and if so to what potential clinical effect. Here, we report two cases of mosaicism persisting from the embryonic stage to the established pregnancy. Case 1 involved an embryonic low-level segmental mosaic loss in Chromosome (Chr) 1, which was confirmed in amniocentesis as well as in brain tissue of the products of conception. This pregnancy was terminated due to the chromosomal pathologies associated with 1p36 deletion syndrome, such as severe intellectual disability. Case 2 involved a low-level mosaic Chr 21 trisomy, which was confirmed with chorionic villus sampling and amniocentesis. The ensuing pregnancy was terminated after ultrasound identification of severe abnormalities in the placenta and fetus. Together, these two cases should be taken into account for risk-benefit assessments of prospective mosaic embryo transfers.
doi_str_mv 10.1093/humrep/deac263
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Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells and have historically been deselected from transfer and grouped with uniformly aneuploid embryos as 'abnormal'. In recent years, numerous groups have reported the intentional transfer of mosaic embryos in the absence of uniformly euploid embryos, largely observing births of seemingly healthy babies. However, it remains to be understood whether the embryonic mosaicism invariably becomes resolved during the ensuing pregnancy, or whether the placenta and/or fetal tissues retain aneuploid cells, and if so to what potential clinical effect. Here, we report two cases of mosaicism persisting from the embryonic stage to the established pregnancy. Case 1 involved an embryonic low-level segmental mosaic loss in Chromosome (Chr) 1, which was confirmed in amniocentesis as well as in brain tissue of the products of conception. This pregnancy was terminated due to the chromosomal pathologies associated with 1p36 deletion syndrome, such as severe intellectual disability. Case 2 involved a low-level mosaic Chr 21 trisomy, which was confirmed with chorionic villus sampling and amniocentesis. The ensuing pregnancy was terminated after ultrasound identification of severe abnormalities in the placenta and fetus. 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This pregnancy was terminated due to the chromosomal pathologies associated with 1p36 deletion syndrome, such as severe intellectual disability. Case 2 involved a low-level mosaic Chr 21 trisomy, which was confirmed with chorionic villus sampling and amniocentesis. The ensuing pregnancy was terminated after ultrasound identification of severe abnormalities in the placenta and fetus. 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source Oxford University Press Journals All Titles (1996-Current); MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection
subjects Aneuploidy
Blastocyst - pathology
Chromosomes, Human, Y
Female
Fetus
Genetic Testing - methods
Humans
Male
Mosaicism
Pregnancy
Preimplantation Diagnosis - methods
Prospective Studies
title Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism
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