Fragile X Syndrome Secondary to in Vitro Fertilization with a Family Egg Donor, A Case Report and Review of the Literature

Abstract

Objective: To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols.
 Case report: This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister through an assisted reproduction protocol. Identifying premutation (PM) carriers of FXS amongst gamete donors isn’t part of the obligatory genetic analysis for donors and is only considered by most of the in vitro fertility societies and guidelines as part of the extension screening tests.
 Conclusion: It is cost-effective to do pre-conceptional screening for the PM or full mutation (FM) of the FMR1 gene affected in FXS in every woman undergoing assisted reproductive methods, including gamete donors even without a positive family history of intellectual disabilities. This case supports the need of rethinking the guidelines on the necessary gamete donor screening tests in assisted reproduction protocols.

A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor

“…There have been documented cases of the transfer of other genetic diseases through IVF and egg donation. A case report published in 2021 detailed a patient with Fragile X syndrome who inherited the condition from a clinically unaffected egg donor who was later identified to have a premutation in FMR1 ( 15 ). Additionally, in 2014, a case report documented a case of X-linked adrenal hypoplasia congenita in a child conceived by IVF and egg donation ( 16 ).…”

“…Similar reports have also been published regarding children conceived through IVF who were later diagnosed with autosomal recessive disorders, including spinal muscular atrophy, despite reporting no known family history ( 17 , 18 ). Most investigators called for reconsideration of current screening protocols at fertility clinics for gamete donors ( 15 , 16 , 17 ).…”