CPT2 and cystic fibrosis: A survey of 64 at-risk couples who received expanded carrier screening found three affected pregnancies, of which two were voluntarily terminated (carnitine palmitoyltransferase II deficiency [MIM 600650] and cystic fibrosis [MIM 219700]), and one was continued (cystic fibrosis).54 Among those couples who were pregnant (30%), the majority (53%) elected or planned a diagnostic procedure.