title: Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.
abstract: OBJECTIVE
  The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.
  
  
  METHODS
  During a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.
  
  
  RESULTS
  ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206) and 96.2% (1770/1840), respectively. In the present study, 60.5% (181/299) of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184) and 28.5% implantation rate (111/389) were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000) and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021). In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000) and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031).
  
  
  CONCLUSIONS
  There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4) of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Xiaokun
authors.initials: X
authors.lastname: Hu
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Yubin
authors.initials: Y
authors.lastname: Li
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Yizi
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Chenhui
authors.initials: C
authors.lastname: Ding
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Zeng
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
authors.forename: Canquan
authors.initials: C
authors.lastname: Zhou
mesh_terms: D000328:Adult; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis; D011379:Prognosis; D055815:Young Adult