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Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome

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Abstract

Purpose

The purpose of this study is to present a case of healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with preimplantation genetic screening (PGS) using sperm from a man with non-mosaic trisomy 21 and a literature review.

Materials and methods

A 26-year-old euploid female and 29-year-old male with non-mosaic trisomy 21 and male factor undergoing ICSI-IVF treatment for primary infertility with embryo biopsy for PGS with comprehensive chromosomal screening (CCS) presented to the Infertility Clinic at Highland Hospital, the Alameda County Medical Center, California, with 6-year history of primary infertility. The outcome measure is a live birth of a healthy child and ploidy status of biopsied blastocysts.

Results

Egg retrieval yielded 33 oocytes, 29 of which underwent ICSI with ejaculated sperm. Twenty-eight 2PN zygotes were cultured, and 13 blastocysts underwent trophectoderm biopsy and vitrification 5 or 6 days after retrieval. CCS analysis revealed that 12 out of 13 (92 %) of blastocysts were euploid and one was a complex abnormal mosaic. Transfer of two grade I hatching blastocysts resulted in a singleton pregnancy with normal prenatal genetic screening and delivery of a healthy male infant at 41 weeks via primary cesarean section for non-reassuring fetal status.

Conclusion

This is the first report of a live birth of a healthy child after ICSI-IVF with PGS using ejaculated sperm from a man with non-mosaic trisomy 21 and male factor infertility.

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Correspondence to Lusine Aghajanova.

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Capsule

Healthy life birth after ICSI with PGS in non-mosaic Down syndrome male.

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Aghajanova, L., Popwell, J.M., Chetkowski, R.J. et al. Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome. J Assist Reprod Genet 32, 1409–1413 (2015). https://doi.org/10.1007/s10815-015-0525-z

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  • DOI: https://doi.org/10.1007/s10815-015-0525-z

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