Of 10 diagnostic cases, nine fetuses had inherited the relevant mutations from their parents (one fetus with diagnosis of Gaucher disease, type II, GBA; three with mucopolysaccharidosis VII, GUSB; one with glycogen storage disease IV, GBE1; one with congenital myasthenic syndrome, RAPSN; one with lymphatic malformation-6, PIEZO1; one with Noonan syndrome LZTR1, and one with immunodysregulation, polyendocrinopathy, and enteropathy, FOXP3). This evidence concerns the gene PIEZO1 and Congenital myasthenic syndromes.