Detecting fetal chromosomal abnormalities is very important during pregnancy. Therefore, performing prenatal diagnostic tests to detect genetic diseases will help make screening more effective. Among them, FISH testing is one of the very important tests.

Chromosome 4q deletion is a rare chromosomal disorder that results from the absence of a portion of the long arm of chromosome 4. People with this mutation may have a prominent forehead (like a prominent hump on the forehead), a prominent back of the head, low-set ears, short, broad hands and feet, an unusually small body due to slow growth, congenital heart defects, and possibly intellectual disability. The condition occurs in approximately 1 in 100,000 people, with males and females being equally affected.

HER2-positive breast cancer is a highly malignant form of breast cancer, identified when the HER2 protein concentration exceeds the normal threshold on the surface of the cancer cell. One in five breast cancers will have cancer cells with mutations in genes that produce an excess of the HER2 protein. HER2-positive breast cancers tend to be more aggressive than other types of breast cancer. Patients are less susceptible to hormone therapy, although many people with HER2-positive breast cancer can still benefit from hormone therapy.