PGT-A: Houston, we have a problem

Preimplantation genetic testing for aneuploidy (PGT-A) is a common add-on to IVF cycles. As it is presently performed, PGT-A relies on whole genome amplification of small amounts of DNA from cells removed from the trophectoderm (TE) of a blastocyst for determination of gain or loss of chromosomal ma...

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Bibliographic Details
Published in:Journal of assisted reproduction and genetics 2023-10, Vol.40 (10), p.2325-2332
Main Author: Casper, Robert F.
Format: Article
Language:English
Subjects:
Abortion, Spontaneous - epidemiology
Abortion, Spontaneous - genetics
Alleles
Aneuploidy
Biopsy
Blastocysts
Embryo transfer
Embryos
Female
Genetic screening
Genetic Testing
Genomes
Gynecology
Heterozygosity
Human Genetics
Humans
Loss of heterozygosity
Medicine
Medicine & Public Health
Mosaicism
Next-generation sequencing
Opinion Paper
Pregnancy
Reproductive Medicine
Trophectoderm
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Summary:Preimplantation genetic testing for aneuploidy (PGT-A) is a common add-on to IVF cycles. As it is presently performed, PGT-A relies on whole genome amplification of small amounts of DNA from cells removed from the trophectoderm (TE) of a blastocyst for determination of gain or loss of chromosomal material by next-generation sequencing. Whole genome amplification may introduce artifacts such as allele dropout and loss of heterozygosity in up to 25% of cases. In addition, the high prevalence of mosaicism in human embryos is a complicating factor in interpreting the results of PGT-A screening. In the presence of mosaicism, biopsy of TE cells cannot provide accurate results regarding the chromosomal make-up of the inner cell mass. The available clinical data suggest that PGT-A is probably harmful when IVF outcomes are analyzed by intention to treat or by live birth rate per cycle started rather than per embryo transfer, especially in women with three or fewer blastocysts. In addition, hypothesized advantages of reduced spontaneous abortion rate and reduced time to conception may be modest at best.
ISSN:1058-0468
1573-7330
1573-7330
DOI:10.1007/s10815-023-02913-w