To Conceive Spontaneously or Through IVF Using PGD - Reproductive Decision Making and Obstetrical Outcome Among Fragile X Premutation Carriers

INTRODUCTION:
Fragile X premutation carrier face the dilemma whether to conceive spontaneously, taking the risk of confronting the medical, ethical and emotional issues of termination of an affected pregnancy or undergo an IVF-PGD which is associated with other medical and emotional issues.

AIM:
To evaluate factors that influence decision making among FMR1 premutation carriers regarding the mode of conception.

MATERIAL & METHODS:
In Israel FMR1 premutation prenatal genetic screening is free of charge and offered to every woman in reproductive years. FMR1 premutation carriers with ≥70 CGG repeats or with a history of FXS offspring are offered IVF-PGD. This cohort study include all pregnant fragile X premutation carriers who underwent prenatal diagnosis at our between the years 2011 and 2016. All relevant data were collected from electronic charts and through a phone interview.

RESULTS:
62 women with 175 pregnancies who were offered IVF-PGD were evaluated. In 22% of pregnancies the woman chose to undergo IVF-PGD. In a multivariate analysis of all variables we found that maternal age and a previous history affected child or termination of pregnancy due to affected fetus had a significant positive affect on the choice to conceive using IVF-PGD. A history of an affected child or termination of pregnancy due to an affected fetus increases the chance to choose IVF-PGD by 7.6 fold compared to pregnancies with no such history.

CONCLUSIONS:
A previous history of affected child or termination of pregnancy due to affected fetus is the most significant factor in a woman`s decision to conceive using IVF-PGD.