Congenital infections secondary to toxoplasmosis, other (varicella zoster virus [VZV], parvovirus, and enterovirus), rubella, and cytomegalovirus (CMV); herpes simplex virus (HSV) and syphilis reviewed in Chapter 44.
Review clinical features that are useful in identifying infants with congenital infections; outline diagnostic tests to confirm or refute congenital infections; outline treatments for congenital infections.
The TORCH acronym (Toxoplasma, other, rubella, CMV, and HSV) was originally designated to group congenital infections with similar clinical features in newborns that included intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, rashes, and eye findings or in utero fetal demise. Congenital rubella syndrome has declined with improved immunizations; however, the “other” category has expanded to include viral pathogens such as VZV, parvovirus, and enterovirus. Serologic testing of mothers and infants along with polymerase chain reaction (PCR)-based diagnostic tests have improved the ability to identify the specific pathogens responsible for congenital infections.
Recognition of clinical features of congenital infections is important to facilitate early diagnosis and treatment. Infants with congenital infections often present with IUGR, hepatosplenomegaly, eye findings, and skin rashes. Alternatively, they can be asymptomatic, hydropic, or suffer in utero demise. Careful review of maternal history and serologies for infections during pregnancy is critical. Further evaluation of infant characteristics may help distinguish different pathogens. Congenital infection is confirmed by pathogen-specific IgM in infant and PCR-based detection of microbe in the amniotic fluid, neonatal skin lesions, or body fluids (blood, urine, CSF, and nasopharyngeal secretions). Treatment targets the specific pathogen.
Identify infants at risk for congenital infections using two triggers: 1) infants born to women who had serious infections in pregnancy and 2) newborns with common clinical features of congenital infection (IUGR, microcephaly, hepatosplenomegaly, skin rashes, and eye findings or nonimmune hydrops). Newborns with positive trigger may benefit from further evaluation, including complete blood count, liver function tests, hearing test, eye examination (cataracts, glaucoma, or chorioretinitis), and neuroimaging (calcifications or CNS abnormalities).
Maternal history and clinical features of the newborn direct the pathogen-specific workup. Diagnostic evaluation includes maternal and neonatal pathogen-specific serologic evaluation and PCR test of amniotic fluid or infant body fluids (Table 43.1).
TABLE 43.1.Clinical Features and Evaluation of Congenital Infections |Favorite Table|Download (.pdf) TABLE 43.1. Clinical Features and Evaluation of Congenital Infections
Specific clinical features
• Diffuse CNS calcifications—Toxoplasma
• Periventricular calcifications—CMV
• Hearing loss—CMV, rubella, Toxoplasma; onset at birth or during infancy
• Limb hypoplasia—VZV
• Cataracts—VZV, rubella
• Congenital heart disease—rubella
• Radiolucent bone disease—rubella
• Nonimmune hydrops ...