At present, more than 20 single-gene disorders can be identified by prenatal diagnosis in Taiwan, including thalassemia, Huntington's disease, dwarfism, glycogen storage disease, spinal muscular atrophy (SMA), Duchene muscular dystrophy (DMD), hemophilia, favism, congenital color blindness, and congenital deafness.
目前台灣能在產前診斷出來的單一基因疾病約二十多種，包括：海洋性貧血、亨丁頓舞蹈症、侏儒症、龐貝症（肝醣貯積症）、脊髓性肌肉萎縮症、裘馨式肌肉萎縮症、血友病、蠶豆症、先天性紅綠色盲、先天性耳聾...... 等等。