Abstract
Research question
Preimplantation genetic testing for aneuploidies has increasingly been employed for
embryo selection, resulting in a recent surge in mosaic embryos. According to the
cytogenetic results, which types of mosaic embryo survive early pregnancy, progress
to the second trimester and finally result in a live birth?
Design
This study evaluated 30,587 pregnant women undergoing amniocentesis from January 2004
to March 2020 at the cytogenic centre of Kaohsiung Chang Gung Memorial Hospital. Samples
from amniocentesis were cultured using the in-situ method. The types and distribution
of level III chromosomal mosaicism (two or more cells with the same abnormality in
two or more colonies and both culture dishes, clinically referred to as ‘true mosaicism’)
were retrospectively reviewed.
Results
Among the 30,587 women, 78 cases (0.26%) of level III chromosomal mosaicism were identified.
The types of chromosomal mosaicism were classified as sex chromosome mosaicism (SCM),
autosomal chromosome mosaicism (ACM) and marker chromosome mosaicism (MCM), with SCM,
ACM and MCM accounting for 58.97%, 32.05% and 8.97% of cases, respectively. The most
common mosaic cell lines were monosomy X and trisomy 21. The most common mosaic cell
line progressing to live birth was monosomy X.
Conclusions
Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism
determined by amniocentesis. Monosomy X mosaicism is the most common cell line in
live births. For women considering the transfer of these types of mosaic embryo in
a circumstance where euploid embryos are unavailable, clinicians should provide careful
prenatal counselling, detailed ultrasonography and amniocentesis.
Keywords
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Biography
Kun-Long Huang graduated from Chung Shan Medical University, Taiwan, in 2013. He completed his residency in Obstetrics and Gynaecology in 2019, and further specialized in high-risk pregnancy. He is presently in the second year of a Fellowship at Chang Gung Memorial Hospital-Kaohsiung Medical Center, Taiwan.
Key message
Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism determined by amniocentesis. Monosomy X mosaicism is the most common cell line in live births. For women considering the transfer of such mosaic embryos, clinical physicians should provide careful prenatal counselling, detailed ultrasonography and amniocentesis.
Article info
Publication history
Published online: March 06, 2021
Accepted:
March 3,
2021
Received in revised form:
February 26,
2021
Received:
December 8,
2020
Declaration: The authors report no financial or commercial conflicts of interest.Identification
Copyright
© 2021 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
