Journal of Assisted Reproduction and Genetics

, Volume 33, Issue 9, pp 1149–1155 | Cite as

Correlation of normal-range FMR1 repeat length or genotypes and reproductive parameters

  • Bat-Sheva L. Maslow
  • Stephanie Davis
  • Lawrence Engmann
  • John C. Nulsen
  • Claudio A. BenadivaEmail author



This study aims to ascertain whether the length of normal-ranged CGG repeats on the FMR1 gene correlates with abnormal reproductive parameters.


We performed a retrospective, cross-sectional study of all FMR1 carrier screening performed as part of routine care at a large university-based fertility center from January 2011 to March 2014. Correlations were performed between normal-range FMR1 length and baseline serum anti-Müllerian hormone (AMH), cycle day 3 follicle stimulating hormone (FSH), ovarian volumes (OV), antral follicle counts (AFC), and incidence of diminished ovarian reserve (DOR), while controlling for the effect of age.


Six hundred three FMR1 screening results were collected. One subject was found to be a pre-mutation carrier and was excluded from the study. Baseline serum AMH, cycle day 3 FSH, OV, and AFC data were collected for the 602 subjects with normal-ranged CGG repeats. No significant difference in median age was noted amongst any of the FMR1 repeat genotypes. No significant correlation or association was found between any allele length or genotype, with any of the reproductive parameters or with incidence of DOR at any age (p > 0.05). However, subjects who were less than 35 years old with low/low genotype were significantly more likely to have below average AMH levels compared to those with normal/normal genotype (RR 3.82; 95 % CI 1.38–10.56).


This large study did not demonstrate any substantial association between normal-range FMR1 repeat lengths and reproductive parameters.


Fragile X FMR1 Diminished ovarian reserve 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Disclosure of funding


Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Bat-Sheva L. Maslow
    • 1
  • Stephanie Davis
    • 2
  • Lawrence Engmann
    • 1
  • John C. Nulsen
    • 1
  • Claudio A. Benadiva
    • 1
    Email author
  1. 1.Division of Reproductive Endocrinology and InfertilityUniversity of Connecticut School of MedicineFarmingtonUSA
  2. 2.Department of PediatricsCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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