Congenital, perinatal and neonatal infection (TORCH) Flashcards
What is the purpose of the TORCH acronym?
Original concept was to group five infections with similar presentations, including rash and ocular findings
What does TORCH stand for?
- Toxoplasmosis
- Other (syphilis)
- Rubella
- Cytomegalovirus (CMV)
- Herpes simplex virus (HSV)
Which type of antibodies can suggest congenital infection in an infant?
IgM because it cannot cross the placenta - but this is rarely diagnostic
What is the cause of toxoplasmosis?
Toxoplasma gondii (protozoan parasite)
How is congenital toxoplasmosis diagnosed?
Toxoplasma-specific IgM or IgA or molecular detection (PCR) of T. gondii DNA in the cerebrospinal fluid (CSF)
Persistence of IgG beyong 12 months - maternal IgG should have disappeared
What are the clinical features of toxoplasmosis?
- Asymptomatic/no abnormalities in most
- Fever
- Maculopapular rash
- Hepatosplenomegaly
- Microcephaly
- Seizures
- Jaundice
- Thrombocytopenia
- Generalised lymphadenopathy (rare)
What is the triad of congenital toxoplasmosis?
- Chorioretinitis (LATE - can cause vision loss)
- Hydrocephalus
- Intracranial calcifications

What is the management of congenital toxoplasmosis?
- Pyrimethamine +
- Sulfadiazine (or sulfamethazine) +
- Folinic acid
CONTINUE TREATMENT FOR 1-2 YEARS
What is the cause of congenital syphilis?
Treponema pallidum (spirochete)
What infections are pregnant women often screened for?
- Syphilis
- Rubella
What are the complications of syphilis infection during pregnancy on the fetus?
- Stillbirth
- Hydrops fetalis
- Prematurity
- Long-term morbidity
How os congenital syphilis diagnosed?
The diagnosis of syphilis is complicated by the absence of a method to culture T. pallidum on laboratory media. In clinical settings, the diagnosis of syphilis may be established by:
- Direct visualization of T. pallidum by darkfield microscopy or fluorescent antibody staining of infected body fluids or lesions, placenta, or umbilical cord
- Demonstration of the T. pallidum by special stains or histopathologic examination
- Demonstration of serologic reactions typical of syphilis
What is the clinical presentation of syphilis <2 years?
- Fever
- Hepatomegaly
- Oedema
- Generalised lymphadenopathy
- Syphilitic rhinitis
- Maculopapular rash
- Pemphigus syphiliticus
- Jaundice
- Anaemia
- Bone pain causing pseudoparalysis of Parrot
- CSF abnormalities
- Pneumonia
- Nephrotic syndrome
What is this rash called?

Pemphigus syphiliticus
What are the late clinical features of congenital syphilis?

What is the management of congenital syphilis in:
- <1 month?
- >1 month ?
<1 month age - single dose of penicillin G benzathine IM (50,000 units/kg, ) [CNS infection = 10 day course]
>1 month - aqueous penicillin G IV every 4-6 hours for 10 days
What is rubella caused by?
Rubella, also known as German measles, is a viral infection caused by the togavirus. Usually self limiting but severe effects on fetus.
What is the incubation period and infectious period of rubella?
Incubation period is 14-21 days
Individuals are infectious from 7 days before symptoms appear to 4 days after the onset of the rash.
When is infection with rubella most dangerous for the fetus?
- in first 8-10 weeks risk of damage to fetus is as high as 90%
- damage is rare after 16 weeks
What are the features of congenital rubella syndrome?
- sensorineural deafness
- congenital cataracts
- congenital heart disease (e.g. patent ductus arteriosus)
- growth retardation
- hepatosplenomegaly
- purpuric skin lesions
- ‘salt and pepper’ chorioretinitis
- microphthalmia
- cerebral palsy
What is shown below?

Congenital rubella syndrome - “blueberry muffin” skin lesions which indicate cutaneous haematopoiesis and may occur in other intrauterine infection sna dhaematological disorder.
What is the management of congenital rubella?
Supportive care and surveillance
No role for antivirals or biologics
Complications such as hearing loss and eye disease should be manageged with MDT approach.
How is congenital rubella diagnosed? What can rubella be confused with clinically?
IgM antibodies are raised in women recently exposed to the virus
it should be noted that it is very difficult to distinguish rubella from parvovirus B19 clinically. It is therefore important to also check parvovirus B19 serology as there is a 30% risk of transplacental infection, with a 5-10% risk of fetal loss
If a woman is trying to get pregnant and has not been immunised against rubella, should you offer MMR immediately?
- non-immune mothers should be offered the MMR vaccination in the post-natal period
- MMR vaccines should not be administered to women known to be pregnant or attempting to become pregnant
Which congenital infection is the leading cause of nonhereditary sensorineural hearing loss?
Congenital cytomegalovirus infection
How common is congenital CMV infection?
Most common congenital viral infection
Maternal CMV infection during pregnancy most often results from close contact with young children, particularly children attending daycare centers.
What are the clinical features of congenital CMV?
- only 10% symptomatic at birth
- petechiae
- jaundice at birth
- hepatosplenomegaly
- thrombocytopenia
- small size for getstaional age
- intracranial calcifications
- sensorineural hearing loss (most common sequela - 1/3 affected)
- chorioretinitis
- seizures
What are the long term complications of congenital CMV?
- sensorineural hearing loss,
- long-term neurodevelopmental disabilities, including cerebral palsy, intellectual disability,
- vision impairment,
- seizures.
What is the management of congenital CMV?
If symptomatic or with hearing loss:
- IV antiviral agents - ganciclovir, valganciclovir
If asymptomatic with no hearing loss:
- Supportive management only e.g. control of seizures, fluids, maintenance of platelets and other blood products,
What is shown below? What could be the cause?

Petechiae in a newborn - congenital CMV
What are the patterns of HSV infection in newborns?
- Localized to the skin, eyes, and mouth
- Localized central nervous system (CNS) disease
- Disseminated disease involving multiple organs
Usually only 1 of 3; occur in equal frequencies.
What is shown below?

HSV infection of the eye in a neonate.
Classically shows coalescing vesicles on an erythematous base on eyelid and surrounding skin. Ophthalmologic evaluation should be performed to check for kertoconjnctivitis and keratitis.
What are the clinical features of congenital in utero HSV infection?
RARE - results from primary HSV infection during pregnancy
- Classical triad - skin vesicles, ulceration and scarring
- Eye damage
- Severe CNS manifestations - e.g. microcephaly and hydranencephaly
- Other: temperature instability, respiratory distress, poor feeding, lethargy, hypotension, jaundice, DIC, apnoea, shock

What is the management of congenital HSV?
Acyclovir IV for 14 days in skin/eye/mouth disease and 21 days in disseminated/CNS infection
When is perinatal transmission of HSV from mother to neonate highest?
During a primary infection with active genital lesions when the infant is delivered vaginally
How do you diagnose HSV infection in a neonate?
- Surface swabs
- CSF
- Blood/plasma
Test by PCR detection or rapid direct immunofluorescence assays (DFA). Serology not helpful.
What are the features of congenital varicella syndrome?
- cutaneous scars (depressed and pigmented)
- cataracts, chorioretinitis, microphthalmos, nystagmus
- hypoplastic limbs
- cortical atrophy and seizures

How is congenital varicella syndrome diagnosed?
- History of maternal varicella infection during the first or second trimester of pregnancy
- Presence of compatible fetal abnormalities consistent with congenital varicella syndrome
- Evidence of intrauterine VZV infection - e.g. VZV DNA in newborn, presence of VZV-specific IgM, IgG beyond seven months of age, early signs of infection.
What is the management of congenital varicella?
Acyclovir - maternal infection
Immunoglobulin - postexposure prophylaxis with an immunoglobulin product containing high titers of VZV-specific antibodies (Varizig) compared with watchful waiting
NB: varicella vaccine is live so do not give in pregnancy