Page 166 - ESHRE2019
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On balance problematic
• Testing of oocyte donors to exclude carriers of fragile‐X premutations: comes with considerable drawbacks for donors; on balance problematic.
• Testing to exclude carriers of low penetrance mutations. Benefits unclear, drawbacks for donors and practice‐undermining effects may be considerable.
• Testing to exclude carriers of de novo mutations. Idem.
On balance acceptable/advisable
• Karyotypingtoexcludedonorswhoare translocation carriers: avoids small risk with large possible impact, limited drawbacks
• Preconception carrier testing to exclude donors who are carriers of ARD with a relatively high prevalence: idem
– But far less effective in avoiding ‘carrier couples’ than EUCS (Silver et al. 2016), so....
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