The false-positive one had X chromosomal microdeletions with the 46,X,del(X)(p22.2) karyotype, which caused a X-link disease, linear skin defects with multiple congenital anomalies 1 (LSDMCA1), also known as microphthalmia with linear skin defects (MLS, OMIM 309801), the patient chose to terminate the pregnancy carefully (Table 4). The gene discussed is HCCS; the disease is microphthalmia.