The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis.
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.
Bibi
Guy
G
Racine IVF Unit, Genetic Institute, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Malcov
Mira
M
Yuval
Yaron
Y
Reches
Adi
A
Ben-Yosef
Dalit
D
Almog
Beni
B
Amit
Ami
A
Azem
Foad
F
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*
D005300:Fertility Agents, Female; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; D011994:Recombinant Proteins; C497683:FMR1 protein, human