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Does theFMR1 gene affect IVF success?

Lisa M Pastore1, Mindy S Christianson2, Bailey McGuinness3

  • 1OB/GYN and Reproductive Medicine Department, Stony Brook Medicine, Stony Brook, New York USA.

Reproductive Biomedicine Online
|February 4, 2019
PubMed
Summary
This summary is machine-generated.

Fragile X gene (FMR1) CGG repeat length has minimal impact on IVF success for most women. Premutation carriers may experience reduced oocyte yield, warranting genetic counseling and testing considerations.

Keywords:
Assisted reproductive technologiesFMR1Female infertilityFertilization rateFragile X syndromeIn vitro fertilizationoocyte yield

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • In Vitro Fertilization (IVF)

Background:

  • Fragile X gene (FMR1) CGG trinucleotide repeat expansions are linked to Fragile X syndrome and primary ovarian insufficiency.
  • The influence of FMR1 CGG repeat length on the success of fertility treatments, particularly IVF, remains unclear.

Purpose of the Study:

  • To review the effect of FMR1 CGG repeat lengths on in vitro fertilization (IVF) outcomes following ovarian stimulation.
  • To synthesize existing research on the association between FMR1 CGG repeat variations and IVF success rates.

Main Methods:

  • A comprehensive literature search was conducted on PubMed for studies published between 2002 and December 2017.
  • Studies focused on IVF-related outcomes stratified by FMR1 trinucleotide repeat length were included.
  • Meta-analysis was performed to assess associations within normal repeat length subcategories.

Main Results:

  • Women with normal (<45 CGG) or intermediate (45-54 CGG) FMR1 CGG repeat lengths showed minimal impact on IVF outcomes, including pregnancy rates.
  • One study indicated lower oocyte yields in women with shorter CGG repeats and normal ovarian reserve undergoing IVF.
  • Meta-analysis found no significant association between normal FMR1 CGG repeat lengths (<45 CGG) and IVF pregnancy rates (OR 1.0, 95% CI 0.87-1.15).
  • Premutation carriers (55-200 CGG) may have reduced IVF success, specifically lower oocyte yield, though findings are inconsistent.

Conclusions:

  • FMR1 CGG repeat length appears to have a limited effect on overall IVF success and pregnancy rates for most women.
  • Premutation carriers might experience diminished oocyte yield in IVF, suggesting potential clinical implications.
  • Consideration of clinical and psychological counseling, alongside preimplantation genetic testing, is recommended for patients with FMR1 repeat expansions.