Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.

Abstract

Objective

To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of IVF-derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT-A).

Method

Ovid-Medline and EMBASE were systematically searched to identify published case reports of live-born individuals with autosomal monosomy, full or mosaic, for a whole chromosome.

Results

Fifty-three reports describing 56 individuals with autosomal monosomy met the selection criteria: one case each of monosomy 14 and 16, three each for monosomy 15 and 18, one for group "E", five for monosomy 20, twenty-four for monosomy 21, seven for monosomy 22, and eleven for a "G" group chromosome. There were no reports with monosomy for the larger chromosomes 1 through 13, nor for chromosomes 17 or 19, autosomes with highest gene density. Most reported individuals had severe handicaps and died in infancy with some surviving longer.

Conclusion

Given potential for survival of handicapped individuals with autosomal monosomy for chromosomes 14, 15, 16, 18, 20, 21, and 22, low priority should be given to transfer of embryos apparently monosomic for these chromosomes. Couples electing transfer of monosomic embryos should consider amniocentesis for ongoing pregnancies but should be informed of its limitations.

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