title: The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis.
abstract: OBJECTIVE
  To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD).
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  Academic IVF unit.
  
  
  METHODS
  Of 18 carriers of FMR1 premutation referred to PGD, eight had <100 CGG repeats and ten had >or=100 CGG repeats.
  
  
  METHODS
  Controlled ovarian stimulation (COH) and PGD.
  
  
  METHODS
  Correlation between the number of CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, number of two-pronuclear (2PN) zygotes, and dose of recombinant FSH.
  
  
  RESULTS
  There was a positive correlation between CGG repeats and the level of E2 at day of hCG administration, number of retrieved oocytes, and number of 2PN zygotes. There was a negative correlation between number of CGG repeats and the total dose of gonadotropins. The E2 level and the number of retrieved oocytes and 2PN zygotes were significantly higher and the dose of gonadotropins significantly lower for premutation patients with >or=100 CGG repeats compared with <100 CGG repeats.
  
  
  CONCLUSIONS
  There is a positive correlation between E2 level, retrieved oocytes, 2PN zygotes, and number of CGG repeats. Premutation carriers with <100 CGG repeats suffer from impaired ovarian response and decreased fertilization rate.
authors.affiliation: Racine IVF Unit, Genetic Institute, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Guy
authors.initials: G
authors.lastname: Bibi
authors.forename: Mira
authors.initials: M
authors.lastname: Malcov
authors.forename: Yaron
authors.initials: Y
authors.lastname: Yuval
authors.forename: Adi
authors.initials: A
authors.lastname: Reches
authors.forename: Dalit
authors.initials: D
authors.lastname: Ben-Yosef
authors.forename: Beni
authors.initials: B
authors.lastname: Almog
authors.forename: Ami
authors.initials: A
authors.lastname: Amit
authors.forename: Foad
authors.initials: F
authors.lastname: Azem
mesh_terms: D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005300:Fertility Agents, Female / Q000008:administration & dosage; D005640:Follicle Stimulating Hormone / Q000008:administration & dosage; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000503:physiopathology; D010053:Ovary / Q000187:drug effects / Q000502:physiology*; D010062:Ovulation Induction; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis; D011994:Recombinant Proteins / Q000008:administration & dosage; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics / Q000502:physiology*
chemical_list: D005300:Fertility Agents, Female; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; D011994:Recombinant Proteins; C497683:FMR1 protein, human