Notes
Congenital Infections (TORCHeS)
Sections
Be aware that there are a few different versions of the TORCHeS acronym and the infectious diseases included; we'll use a relatively inclusive version for completeness.
This tutorial includes key infections that are transmitted from the parent to fetus or neonate during pregnancy or birth.
These infections are a significant source of fetal and neonatal mortality and childhood morbidity.
Common manifestations: Slow growth, congenital heart disease, enlarged liver and/or spleen, jaundice, microcephaly or hydrocephaly, ocular lesions, and skin rashes.
The severity of infection often depends on its timing: Outcomes are often more severe when infection occurs early in pregnancy; for example, early infections are more likely to lead to fetal loss.
Where available, treatment should be administered as soon as possible to minimize long-term complications.
TORCHEeS acronym:
Toxoplasma gondii
Other (including Varicella Zoster Virus, Parvovirus B 19, Listeriosis)
Rubella
Cytomegalovirus
Herpes Simplex Virus
HIV (some include HIV in the "Others" category)
Syphilis (also sometimes included in the "others" category).
Be aware that the "Others" category also sometimes includes additional infectious agents, such as Zika Virus.
Toxoplasma gondii
Protozoan parasite.
Infected parents are usually asymptomatic.
Infections occurring early in a pregnancy are less likely to be passed to the offspring; however, in the cases when infection is passed to the offspring early in pregnancy, the outcomes are worse.
In addition to the non-specific signs we listed in our table, congenital toxoplasmosis is often associated with the "classic triad": diffuse intracranial calcifications, chorioretinitis, and hydrocephaly.
Additionally, some neonates have a characteristic "blueberry muffin rash" wherein the skin is marked by raised, bluish spots.
Long-term CNS complications can develop, including intellectual disabilities, seizures, spasticity/palsies, and vision impairments.
Treatment includes anti-parasitic drugs, including pyrimethamine, sulfadiazine, and leucovorin.
Rubella virus
Infection can cause congenital rubella syndrome.
Infection is often subclinical at birth, but characteristic manifestations may develop: Deafness, cataracts, and heart disease. Some infants have a blueberry muffin rash.
No specific treatment for congenital rubella syndrome.
The best prevention is to ensure that pregnant people are vaccinated against the virus.
Herpes Simplex Viruses 1 & 2
Congenital infections are acquired in utero, and are rare.
Neonatal infections are acquired during birth.
3 primary patterns of HSV 1 & 2 neonatal infections, all of which can include rash:
— Mucocutaneous lesions are localized to the skin, eyes (conjunctivitis), and mouth ("SEM").
— In other cases, infection is localized in the CNS, and can manifest, for example, as meningitis.
— In the most severe cases, infection is disseminated and can lead to multi-organ failure and death. Some authors report that the liver and lungs are especially compromised in disseminated infections.
Acyclovir is used to treat neonatal HSV.
Because we cover HIV in depth elsewhere, we're omitting it, here.
— Be aware that recurring and/or opportunistic infections during childhood may be a warning sign of HIV infection.
Others
Varicella-Zoster Virus (aka, Human Herpes Virus 3, chickenpox):
Congenital varicella is the result of primary infection in early pregnancy; mortality is high, and offspring that survive are likely to have skin and ocular lesions, hypoplastic limbs, and CNS abnormalities.
Neonatal varicella is the result of primary infection in late pregnancy; infants often develop a vesiculopapular rash. In more severe cases, disseminated infection can lead to pneumonia, hepatitis, and encephalitis.
Treatment includes VZV immune globulin, and acyclovir is used to treat disseminated infections.
Congenital listeriosis:
Occurs when pregnant people consume the bacteria Listeria monocytogenes in contaminated foods.
Infection early in pregnancy often leads to fetal loss.
Infection later in pregnancy can produce neonatal infections that are categorized as early or late onset.
Early onset is associated with sepsis, pneumonia, and, in very severe cases, granulomatosis infanticeptica, which is associated with a high mortality rate. Granulomatosis infantiseptica is characterized by disseminated granulomas.
Late onset listeriosis is associated with meningitis.
Antibiotics can be used to treat congenital listeriosis.
Parvovirus B19
Infection during pregnancy is associated with anemia, and that severe anemia can lead to fetal hydrops.
Fetal hydrops is characterized by fluid accumulation in multiple fetal compartments, which can lead to respiratory distress and swelling of the abdomen.
Intrauterine red blood cell transfusions have been used to treat severely anemic fetuses.
Cytomegalovirus
Congenital infection is common in the US; approximately 1 in 200 infants born in the US is affected.
Most of these infants are asymptomatic, and only 1 in 5 with the infection will develop complications of congenital cytomegalovirus syndrome, which may not be apparent at birth.
Congenital CMV is the leading cause of birth and developmental abnormalities in the US.
Key manifestations of CMV syndrome include: deafness, blueberry muffin rash, and periventricular calcifications (as well as other CNS abnormalities).
Treatment includes ganciclovir or valganciclovir.
Syphilis
Neonates with congenital syphilis are often asymptomatic at birth.
Early onset illness is defined as the arrival of symptoms before two years of age.
Common manifestations include:
— Rash
— "Snuffles" (syphilitic rhinitis)
— Hepatomegaly with jaundice
— Lymphadenopathy
— Long bone abnormalities such as Wimberger's sign (which is characterized by bilateral destruction of the medial tibial metaphysis)
— CNS abnormalities
Late onset illness, defined as after 2 years of age, is characterized by a variety of abnormalities, including:
— Hearing impairment
— Facial features: Frontal bossing (forehead protrusion), interstitial keratitis, saddle nose (sunken nasal bridge), short maxilla (and possibly perforated hard palate), and protruding mandible.
— Dental features: Hutchison incisors have a serrated appearance, and mulberry molars are pitted on the surface.
— Some patients develop skeletal abnormalities such as "saber shins," characterized by tibias that are bowed anteriorly like saber blades, and Clutton's joints, which are characterized by symmetrical synovitis and joint swelling (especially of the knees).
Treated with various formulations of penicillin.
Additional Images of Congenital Syphilis:
References
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