A 40-year-old pregnant woman, she once had a normal birth previously. The pregnancy was a second child, at the age of 17+5, the doctor recommended the iNIPS test.She gave birth to a second child. When she was 17+5 pregnant, her doctor suggested that iNIPS should be performed. No abnormalities were found in chromosome 21, 18 and 13. However, chromosome 2 indicated a fragment abnormal signal (suspected deletion). After amniocentesis, it was confirmed that there was a deletion of the pathogenic fragment on chromosome 2, the couple asked the doctor for genetic counseling in order to develop a corresponding follow-up plan.