Literature DB >> 26139158

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

Lusine Aghajanova1, Jean M Popwell2, Ryszard J Chetkowski3, Christopher N Herndon3,4.   

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.

Entities:  

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

Mesh:

Year:  2015        PMID: 26139158      PMCID: PMC4595396          DOI: 10.1007/s10815-015-0525-z

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  28 in total

1.  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.

Authors:  N Rives; G Joly; A Machy; N Siméon; P Leclerc; B Macé
Journal:  Mol Hum Reprod       Date:  2000-02       Impact factor: 4.025

Review 2.  Selecting the optimal time to perform biopsy for preimplantation genetic testing.

Authors:  Katherine L Scott; Kathleen H Hong; Richard T Scott
Journal:  Fertil Steril       Date:  2013-09       Impact factor: 7.329

3.  Self-perceptions from people with Down syndrome.

Authors:  Brian G Skotko; Susan P Levine; Richard Goldstein
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

4.  The changing survival profile of people with Down's syndrome: implications for genetic counselling.

Authors:  E J Glasson; S G Sullivan; R Hussain; B A Petterson; P D Montgomery; A H Bittles
Journal:  Clin Genet       Date:  2002-11       Impact factor: 4.438

Review 5.  Health care management of adults with Down syndrome.

Authors:  D S Smith
Journal:  Am Fam Physician       Date:  2001-09-15       Impact factor: 3.292

6.  Health supervision for children with Down syndrome.

Authors:  Marilyn J Bull
Journal:  Pediatrics       Date:  2011-07-25       Impact factor: 7.124

7.  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.

Authors:  S T Kim; Y B Cha; J M Park; M C Gye
Journal:  Fertil Steril       Date:  2001-02       Impact factor: 7.329

Review 8.  Fertility in men with Down syndrome: a case report.

Authors:  Mandakini Pradhan; Ashwin Dalal; Faisal Khan; Suraksha Agrawal
Journal:  Fertil Steril       Date:  2006-11-13       Impact factor: 7.329

9.  Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial.

Authors:  Richard T Scott; Kathleen M Upham; Eric J Forman; Tian Zhao; Nathan R Treff
Journal:  Fertil Steril       Date:  2013-06-15       Impact factor: 7.329

Review 10.  Spindle formation, chromosome segregation and the spindle checkpoint in mammalian oocytes and susceptibility to meiotic error.

Authors:  E Vogt; M Kirsch-Volders; J Parry; U Eichenlaub-Ritter
Journal:  Mutat Res       Date:  2007-11-09       Impact factor: 2.433

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  1 in total

1.  Birth of a healthy child after pre-implantation genetic screening of embryos from sperm of a man with nonmosaic Down syndrome.

Authors:  Lusine Aghajanova; J M Popwell; R J Chetkowski; C N Herndon
Journal:  J Assist Reprod Genet       Date:  2016-03-14       Impact factor: 3.412

  1 in total

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