Top

Journal of Assisted Reproduction and Genetics

Published in:

01-09-2015 | Case Report

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

Authors: Lusine Aghajanova, Jean M. Popwell, Ryszard J. Chetkowski, Christopher N. Herndon

Published in: Journal of Assisted Reproduction and Genetics | Issue 9/2015

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.

Eyman RK, Call TL. Life expectancy of persons with Down syndrome. Am J Ment Retard. 1991;95(6):603–12.PubMed

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.CrossRefPubMed

Bovicelli L et al. Reproduction in Down syndrome. Obstet Gynecol. 1982;59(6 Suppl):13S–7S.PubMed

Hojager B et al. Follicular development in ovaries of children with Down’s syndrome. Acta Paediatr Scand. 1978;67(5):637–43.CrossRefPubMed

Hsiang YH et al. Gonadal function in patients with Down syndrome. Am J Med Genet. 1987;27(2):449–58.CrossRefPubMed

Shobha Rani A et al. Reproduction in Down’s syndrome. Int J Gynaecol Obstet. 1990;31(1):81–6.CrossRefPubMed

Johannisson R et al. Down’s syndrome in the male. Reproductive pathology and meiotic studies. Hum Genet. 1983;63(2):132–8.CrossRefPubMed

Pradhan M et al. Fertility in men with Down syndrome: a case report. Fertil Steril. 2006;86(6):1765.e1–3.CrossRef

Watson SL et al. Sex and genes, part 1: sexuality and Down, Prader-Willi, and Williams syndromes. Intellect Dev Disabil. 2012;50(2):155–68.CrossRefPubMed

10.

Zuhlke C et al. Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations. Clin Genet. 1994;46(4):324–6.CrossRefPubMed

11.

Bobrow M et al. Fertility in a male with trisomy 21. J Med Genet. 1992;29(2):141.PubMedCentralCrossRefPubMed

12.

Kim ST et al. Successful pregnancy and delivery from frozen-thawed embryos after intracytoplasmic sperm injection using round-headed spermatozoa and assisted oocyte activation in a globozoospermic patient with mosaic Down syndrome. Fertil Steril. 2001;75(2):445–7.CrossRefPubMed

13.

Guerneri S et al. Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod. 1987;2(8):735–9.PubMed

14.

Nagaishi M et al. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res. 2004;30(3):237–41.CrossRefPubMed

15.

Vogt E et al. Spindle formation, chromosome segregation and the spindle checkpoint in mammalian oocytes and susceptibility to meiotic error. Mutat Res. 2008;651(1–2):14–29.CrossRefPubMed

16.

Kahraman S et al. Results of preimplantation genetic diagnosis in patients with Klinefelter’s syndrome. Reprod Biomed Online. 2003;7(3):346–52.CrossRefPubMed

17.

Staessen C et al. PGD in 47, XXY Klinefelter’s syndrome patients. Hum Reprod Update. 2003;9(4):319–30.CrossRefPubMed

18.

Rives N et al. Assessment of sex chromosome aneuploidy in sperm nuclei from 47, XXY and 46, XY/47, XXY males: comparison with fertile and infertile males with normal karyotype. Mol Hum Reprod. 2000;6(2):107–12.CrossRefPubMed

19.

Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod. 1999;14(5):1151–6.CrossRefPubMed

20.

Scott KL, Hong KH, Scott Jr RT. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril. 2013;100(3):608–14.CrossRefPubMed

21.

McArthur SJ et al. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84(6):1628–36.CrossRefPubMed

22.

Scott Jr RT et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100(3):624–30.CrossRefPubMed

23.

Smith DS. Health care management of adults with Down syndrome. Am Fam Physician. 2001;64(6):1031–8.PubMed

24.

Bull MJ, The Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406.CrossRefPubMed

25.

Vintzileos AM et al. Cost-benefit analysis of prenatal diagnosis for Down syndrome using the British or the American approach. Obstet Gynecol. 2000;95(4):577–83.CrossRefPubMed

26.

Skotko BG, Levine SP, Goldstein R. Self-perceptions from people with Down syndrome. Am J Med Genet A. 2011;155A(10):2360–9.CrossRefPubMed

27.

Gath A. Parents as therapists of mentally handicapped children. J Child Psychol Psychiatry. 1979;20(2):165–5.CrossRefPubMed

28.

Gath A. Mentally handicapped people as parents. J Child Psychol Psychiatry. 1988;29(6):739–44.CrossRefPubMed

Title: Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome
Authors: Lusine Aghajanova
Jean M. Popwell
Ryszard J. Chetkowski
Christopher N. Herndon
Publication date: 01-09-2015
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 9/2015
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-015-0525-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Purpose

Materials and methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Materials and methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 9/2015

Does sperm origin affect embryo morphokinetic parameters?

Dexamethasone attenuates the embryotoxic effect of endometriotic peritoneal fluid in a murine model

Increased body mass index negatively impacts blastocyst formation rate in normal responders undergoing in vitro fertilization

Slow freezing should not be totally substituted by vitrification when applied to day 3 embryo cryopreservation: an analysis of 5613 frozen cycles

Public health implications of a North American publicly funded in vitro fertilization program; lessons to learn

Phospholipase C-zeta deficiency as a cause for repetitive oocyte fertilization failure during ovarian stimulation for in vitro fertilization with ICSI: a case report