title: Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, 550 16th Street, 7th Floor, Box 0132, San Francisco, CA, 94158, USA. Lusine.Aghajanova@ucsf.edu.
authors.forename: Lusine
authors.initials: L
authors.lastname: Aghajanova
authors.affiliation: Pacific Fertility Center, San Francisco, CA, USA.
authors.forename: Jean M
authors.initials: JM
authors.lastname: Popwell
authors.affiliation: Alta Bates IVF Program, Berkeley, CA, USA.
authors.forename: Ryszard J
authors.initials: RJ
authors.lastname: Chetkowski
authors.affiliation: Alta Bates IVF Program, Berkeley, CA, USA.|Highland Hospital, Alameda County, Medical Center, Oakland, CA, USA.
authors.forename: Christopher N
authors.initials: CN
authors.lastname: Herndon
mesh_terms: D000328:Adult; D000782:Aneuploidy; D004314:Down Syndrome / Q000235:genetics*; D004624:Embryo Transfer; D004622:Embryo, Mammalian / Q000166:cytology / Q000502:physiology*; D047108:Embryonic Development; D005260:Female; D005306:Fertilization / Q000502:physiology; D005307:Fertilization in Vitro / Q000379:methods*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007248:Infertility, Male / Q000628:therapy*; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011379:Prognosis; D013094:Spermatozoa / Q000737:chemistry*
keywords: Comprehensive chromosomal screening; Down syndrome; Male factor infertility; Preimplantation genetic screening; Repetitive trophectoderm embryo biopsy; Trisomy 21 infertility