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Preimplantation genetic diagnosis versus prenatal diagnosis—decision-making among pregnant FMR1 premutation carriers

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To detect which factors influence decision-making among pregnant FMR1 premutation carriers regarding the preferred mode of genetic diagnosis: IVF-PGT-M (in vitro fertilization with preimplantation genetic testing for monogenic gene diseases), or CVS (chorionic villus sampling), or AC (amniocentesis) after spontaneous conception.

Methods

In Israel FMR1 premutation preconception genetic screening is offered, free of charge, to every woman in her reproductive years. FMR1 premutation carriers with ≥ 70 CGG repeats, or a history of FXS offspring, are offered IVF-PGT-M. This is a historical cohort study including all pregnant FMR1 premutation carriers who underwent prenatal diagnosis between the years 2011 and 2016 at a tertiary medical center. Data were collected from electronic charts and through phone interviews.

Results

One hundred seventy-five women with high-risk pregnancies who were offered IVF-PGT-M were evaluated. In 37 pregnancies (21%), the women decided to undergo IVF-PGT-M. Using the generalized estimating equations (GEE) statistical method including seven parameters, we found that previous termination of pregnancy due to FXS and advanced woman’s age were significantly associated with making the decision to undergo IVF-PGT-M. Previously failed IVF was the most significant parameter in a woman’s decision not to undergo IVF-PGT-M.

Conclusion

The most dominant factor affecting the decision of FMR1 premutation carriers to choose spontaneous conception with prenatal diagnosis versus IVF-PGT-M is a previous experience of failed IVF treatments. Women whose IVF treatments failed in the past tended to try to conceive naturally and later, during the course of the pregnancy, perform CVS or AC. Conversely, women who previously experienced a termination of pregnancy (TOP) due to an affected fetus, and older women, preferred to undergo IVF-PGT-M procedures.

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Acknowledgments

This work was supported by The Azrieli Foundation Canada-Israel.

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Authors and Affiliations

  1. IVF Unit, Sheba Medical Center, Tel Hashomer, Israel

    Lilach Marom Haham, Inbal Avrahami, Noam Domniz, Raoul Orvieto, Yoram Cohen & Shai E. Elizur

  2. The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel

    Liat Ries-Levavi & Michal Berkenstadt

  3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Liat Ries-Levavi, Michal Berkenstadt, Raoul Orvieto, Yoram Cohen & Shai E. Elizur

Authors
  1. Lilach Marom Haham
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  2. Inbal Avrahami
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  3. Noam Domniz
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  4. Liat Ries-Levavi
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  5. Michal Berkenstadt
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  6. Raoul Orvieto
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  7. Yoram Cohen
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  8. Shai E. Elizur
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Correspondence to Lilach Marom Haham.

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Haham, L.M., Avrahami, I., Domniz, N. et al. Preimplantation genetic diagnosis versus prenatal diagnosis—decision-making among pregnant FMR1 premutation carriers. J Assist Reprod Genet 35, 2071–2075 (2018). https://doi.org/10.1007/s10815-018-1293-3

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  • DOI: https://doi.org/10.1007/s10815-018-1293-3

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