CFTR and proximal spinal muscular atrophy: On the carrier screening for autosomal recessive and X-linked recessive disorders(Figure 2), 11/97 candidates had aheterozygous pathogenic variant, representing 11.3% of candidates tested(CFTR-related cystic fibrosis n=5/97,hemoglobinopathy-sickle cell anemia n=3/30, spinal muscular atrophy n=2/97,FMR1 premutation n=1/63).