Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2015 Sep;32(9):1409-13.
doi: 10.1007/s10815-015-0525-z. Epub 2015 Jul 3.

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

Lusine Aghajanova  1 , Jean M Popwell  2 , Ryszard J Chetkowski  3 , Christopher N Herndon  3   4
Affiliations
Case Reports

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

Lusine Aghajanova et al. J Assist Reprod Genet. 2015 Sep.

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.

Keywords: Comprehensive chromosomal screening; Down syndrome; Male factor infertility; Preimplantation genetic screening; Repetitive trophectoderm embryo biopsy; Trisomy 21 infertility.

PubMed Disclaimer

References

    1. Eyman RK, Call TL. Life expectancy of persons with Down syndrome. Am J Ment Retard. 1991;95(6):603–12. - PubMed
    1. Glasson EJ, et al. The changing survival profile of people with Down’s syndrome: implications for genetic counselling. Clin Genet. 2002;62(5):390–3. doi: 10.1034/j.1399-0004.2002.620506.x. - DOI - PubMed
    1. Bovicelli L, et al. Reproduction in Down syndrome. Obstet Gynecol. 1982;59(6 Suppl):13S–7S. - PubMed
    1. Hojager B, et al. Follicular development in ovaries of children with Down’s syndrome. Acta Paediatr Scand. 1978;67(5):637–43. doi: 10.1111/j.1651-2227.1978.tb17815.x. - DOI - PubMed
    1. Hsiang YH, et al. Gonadal function in patients with Down syndrome. Am J Med Genet. 1987;27(2):449–58. doi: 10.1002/ajmg.1320270223. - DOI - PubMed

Publication types

LinkOut - more resources