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The five categories of organisms whose antibodies are measured by the TORCH test are grouped together because they can cause a cluster of symptomatic birth defects in newborns. This group of defects is sometimes called the TORCH syndrome. A newborn baby with these symptoms will be given a TORCH test to see if any of the five types of infection are involved.

The symptoms of the TORCH syndrome include:

• Small size in proportion to length of the mother's pregnancy at time of delivery. Infants who are smaller than would be expected (below the tenth percentile) are referred to as small-for-gestational-age, or SGA.
• Enlarged liver and spleen
• Low level of platelets in the blood
• Skin rash. The type of skin rash associated with the TORCH syndrome is usually reddish-purple or brown and is caused by the leakage of blood from broken capillaries into the baby's skin.
• Involvement of the central nervous system. These defects can include encephalitis, calcium deposits in the brain tissue, and seizures.
• Jaundice. The yellowish discoloration of the skin and whites of the eyes due to liver disease.

In addition to these symptoms, each of the TORCH infections has its own characteristic symptom cluster in newborns:

Toxoplasmosis is caused by Toxoplasma gondii, a parasite that the mother can acquire from handling infected cats, drinking unpasteurized milk, or eating contaminated meat. The infection is carried to the infant through the mother's placenta, and can cause infections of the eyes or central nervous system. The organism can invade brain or muscle tissue and form tissue cysts. The later in pregnancy that the mother is infected, the higher the probability that the fetus will be infected. On the other hand, toxoplasmosis early in pregnancy is more likely to cause a miscarriage or serious birth defects. The incidence of toxoplasmosis in newborns is one in 1,000 live births.

Syphilis is caused by a spirochete (spiral- or coilshaped bacterium), Treponema pallidum. It is transmitted in the adult population by sexual intercourse. About 2-5% of children born to mothers diagnosed with syphilis will have the disease at birth. Syphilis was added to the TORCH panel because of a rapid increase in reported cases since 1990. It is also a potentially life-threatening infection for the fetus. Syphilis can cause early delivery, miscarriage, or stillbirth. The mortality rate in infants infected with syphilis is about 54%.

Rubella is a virus that has a seasonal pattern, with epidemics most likely in the spring. Between 0.1-2% of newborns will be infected with rubella. The rate of fetal infection varies according to the timing of the mother's infection during pregnancy. Birth defects, however, are most likely (85%) in infants infected during the first eight weeks of pregnancy. Infants born with rubella may already show signs of heart disease, retarded growth, hearing loss, blood disorders, vision problems, or pneumonia. They may also develop problems later in childhood, including autism, hearing loss, brain syndromes, immune system disorders, or thyroid disease.

Cytomegalovirus belongs to the herpesvirus group of infections. It can be transmitted through body secretions, as well as by sexual contact; some newborns acquire CMV through the mother's breast milk. In adults, it produces symptoms resembling those of mononucleosis. About 1–2.2% of newborns in the United States are infected with CMV. Of this group, 10% will have measurable symptoms. The mortality rate for these symptomatic newborns is 20–30%. Surviving infants with CMV may suffer from hearing problems (15%) or mental retardation (30%). Newborns that acquire CMV during the birth process or shortly after birth may develop pneumonia, hepatitis, or various blood disorders.

Herpesvirus infections are among the most common viral infections in humans. They are spread by oral, as well as genital, contact. It is estimated that between 1 in 1,000 and 1 in 5,000 infants are born with HSV infections. About 80% of these infections are acquired during the birth process itself; the virus enters the infant through its eyes, skin, mouth, and upper respiratory tract. Of infants born with HSV infection, about 20% will have localized infections of the eyes, mouth, or skin. About 50% of infected infants will develop disease spread throughout the body (disseminated) within nine to 11 days after birth. Disseminated herpes infections attack the liver and adrenal glands, as well as other body organs. Without treatment, the mortality rate is 80%. Even with antiviral medication, the mortality rate is still 15–20%, with 40–55% of the survivors having long-term damage to the central nervous system. It is critical for the doctor to diagnose HSV infection in the newborn as soon as possible, for effective treatment.

— Rebecca J. Frey, PhD