Introduction

TORCH is an acronym for a group of congenital infections (Toxoplasmosis, Rubella, Cytomegalovirus, and Herpes Simplex). Several other congenital infections are now considered part of TORCH, although they do not fit the acronym. The initial presentation of TORCH infections may be nonspecific, such as being small for gestational age, or may present as thrombocytopenia in a baby with no other clinical reason for these findings. TORCH infections are different from cases of maternally acquired neonatal sepsis because they are often accompanied by long-term sequelae long after the initial infection has resolved.

Toxoplasmosis

Toxoplasmosis gondii is a parasite that usually causes infection only in immunocompromised patients. The immunosuppression inherent in pregnancy increases a woman’s susceptibility to this organism. The risk of transmission and severity of disease varies depending on the trimester during which exposure occurs. Exposure of the fetus during the first 10 weeks of pregnancy equates to infrequent transmission.¹ Weeks 26 to 40 of gestation have the highest rate of associated transmission but equate to overall milder disease in the infant. Toxoplasmosis infection in weeks 10 to 24 is associated with the highest risk for transmission and severity of subsequent disease.

Clinical signs, although often not present at birth, can include maculopapular rash, lymphadenopathy, splenomegaly, hepatomegaly, jaundice, and thrombocytopenia.² Chorioretinitis is the most common finding in these infants.³ Long-term sequelae of untreated disease may include visual impairment, deafness, learning disabilities, or death.

Diagnosis may be made by assessing serum antibodies and/or by obtaining polymerase chain reaction (PCR) of the amniotic fluid or cerebrospinal fluid (CSF). Specifically, toxoplasma-specific immunoglobulin G (IgG) and immunoglobulin M (IgM) are elevated in acute infection.⁴ IgM antibodies may persist for up to 1 year following infection; however, an infection acquired in the distant past often results in elevated IgG but a negative IgM antibody test.⁵ PCR is useful in amniotic fluid only if obtained after 18 weeks’ gestation. Reference laboratories such as Palo Alto Medical Foundation Toxoplasma Serology Laboratory (PAMF-TSL) can offer more specialized testing options and assist in guiding treatment of pregnant women.⁵

Prevention

Potential sources of infection include cats, undercooked meat, and unwashed vegetables. Pregnant women should always wear gloves when cleaning cat litter, cook meat to the appropriate temperature, and thoroughly wash all vegetables.

Spiramycin and/or a combination of pyrimethamine, sulfadiazine, and folinic acid may be used in infected pregnant women in an attempt to prevent transmission to the fetus. For cases of toxoplasmosis diagnosed during pregnancy, consultation with a physician expert in toxoplasmosis is recommended. Spiramycin is not commercially available in the United States, but it can be obtained after consultation with PAMF-TSL by calling the U.S. Food and Drug Administration at (301) 796-1400.

Treatment

Both symptomatic and asymptomatic newborns with congenital toxoplasmosis should be treated.⁶ Recommended initial therapy includes a combination of pyrimethamine and sulfadiazine (supplemented with folinic acid) for up to 1 year of treatment. Due to lack of an established optimal dosage and duration, the 2015 RedBook advises that infectious diseases specialists should be involved in developing regimens for individual patients. For infants with mild disease, some experts recommend alternating pyrimethamine/sulfadiazine/folinic acid with spiramycin during the second half of the treatment year. Infants with moderate-to-severe disease should receive pyrimethamine/sulfadiazine/folinic acid for the full year. Corticosteroids may be recommended in cases involving ocular complications or central nervous system (CNS) disease.²

Rubella

Due to the advent of the rubella vaccine in 1969, cases of congenital rubella infections have become extremely rare in the United States. From 2004 to 2012, six congenital rubella syndrome cases were reported in the United States, which were all considered to be imported cases or from an unknown source.⁶ Management of rubella is supportive; therefore, the most important thing for pharmacists to know about rubella is prevention strategies. Rubella screening is required during pregnancy. It is estimated that 20% of reproductive-age women in the United States are not immune to rubella.³ Because the rubella vaccine is a live virus vaccine, it is not recommended during pregnancy. Women who are nonimmune should be vaccinated after delivery of their baby prior to discharge from the hospital.

Varicella

Varicella (chickenpox) is often considered a benign childhood disease. To an unborn fetus or to a newborn baby, it can be very dangerous. Congenital varicella syndrome (CVS) occurs when a fetus is exposed to varicella prior to 20 weeks’ gestation.⁷ CVS is associated with devastating consequences such as limb deformities and eye abnormalities. Perinatally acquired varicella is considered an infection that develops from 5 days before delivery up to 2 days following delivery. This infection can be fatal to the infant due to the lack of maternal antibody passage. The severity of varicella infections that occur after 28 weeks’ gestation and more than 5 days before delivery is modified by maternal antibodies. Perinatal maternal herpes zoster, also known as shingles, is generally not considered a risk to the fetus due to the protection of established maternal antibodies.

Prevention

Varicella zoster immune globulin (VariZIG) became available in December 2012 and is indicated as described below. Dosing of VariZIG is 125 international units for each 10 kilogram (kg) of body weight administered intramuscularly (IM) to a maximum dose of 625 units.⁸ The fixed dose for infants less than 2 kg is 62.5 units. Patients weighing 2.1 to 10 kg should receive 125 units. The dose should be administered as soon after virus exposure as possible for up to 10 days following the exposure.

Patient groups recommended by Centers for Disease Control and Prevention (CDC) to receive VariZIG include the following:

Immunocompromised patients without evidence of immunity.

Newborn infants whose mothers have signs and symptoms of varicella around the time of delivery (i.e., 5 days before to 2 days after).

Hospitalized premature infants born at ≥28 weeks of gestation whose mothers do not have evidence of immunity to varicella.

Hospitalized premature infants born at <28 weeks of gestation or who weigh ≤1,000 g at birth, regardless of their mothers’ evidence of immunity to varicella.

Pregnant women without evidence of immunity.⁹

Prevention of varicella infection includes immunizing nonimmune mothers following delivery as well as airborne and contact precautions/isolation of those infected.

Cytomegalovirus

Cytomegalovirus (CMV) is the most commonly acquired congenital infection, although only 10% of affected infants exhibit signs or symptoms at birth.⁶ Common signs of CMV infection at birth include small for gestational age, microcephaly, and thrombocytopenia with petechiae/purpura known as “blueberry muffin” spots. CMV is the most common cause of nonhereditary sensorineural hearing loss in children.² Half of those affected continue to have progression of their hearing loss. More than half of infants who develop hearing loss will have no hearing loss detectable in the first month of life. Potential long-term sequelae of congenital CMV infection (other than hearing loss) include chorioretinitis, blindness, and moderate-to-severe mental retardation. Among viral causes, CMV is the most frequently identified culprit in cases of mental retardation.¹⁰

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