Given our findings, and the findings of a pathogenic homozygous T542P variant in FAAP100 in an fetus with a phenotype consistent with FA identified by Detlev Schindler and colleagues (personal communication), the FAAP100/FANCX gene should be added to the existing genetic testing panels for FA and may be beneficial in genetic screens for prenatal losses. This evidence concerns the gene FAAP100 and Friedreich ataxia.