torch infections with hearing loss

By

Ibrahim Mohamed Abdo

Congenital TORCH infections

Congenital infections are due to pathogens that are transmitted from mother to child
during pregnancy (transplacentally) or delivery (peripartum). They can have a substantial
negative impact on fetal and neonatal health. The acronym TORCH stands for the causative
pathogens: Toxoplasmosis, Others (including syphilis, listeriosis, varicella, parvovirus
B19), Rubella, Cytomegalovirus (CMV), and Herpes simplex virus (HSV). TORCH infections
can cause spontaneous abortion, premature birth, and intrauterine growth
restriction during pregnancy. TORCH infections can cause numerous complex organ
abnormalities, including central nervous system (CNS) abnormalities, cardiac defects, vision
and hearing loss, as well as skeletal and endocrine abnormalities. Prophylaxis is of great
importance during pregnancy. Primary
prevention includes vaccination for varicella and rubella (prior to pregnancy), screening
for syphilis, and hygiene measures (washing hands, and avoiding certain foods)
during pregnancy. Affected children require long-term follow-up to monitor for hearing loss,
ophthalmological abnormalities, and developmental delays.

Several other pathogens can also be vertically transmitted during pregnancy and have detrimental
effects on the fetus and/or newborn. These include HIV in pregnancy, perinatal hepatitis
B, group B streptococcus (GBS), E. coli, gonococcal infection and chlamydial infections, West
Nile virus, Zika virus, measles virus, enterovirus, and adenovirus. These conditions are discussed
in more detail in their respective learning cards.

 TORCH infections: vertically transmitted infections that are capable of significantly

influencing fetal and neonatal morbidity and mortality
 T for toxoplasmosis
 O for others (including syphilis, varicella-zoster virus, parvovirus B19,
possibly listeriosis)
 R for rubella
 C for cytomegalovirus (CMV)
 H for herpes simplex virus (HSV)
Congenital and newborn listeriosis

 Epidemiology: Incidence in US: 3/100,000 births

 Pathogen: Listeria monocytogenes
 Transmission
 Pregnant women: See learning card on listeriosis.
 Fetus: vertical transmission during pregnancy or delivery
 Clinical features
 Intrauterine transmission to the fetus
 ↑ Risk of premature birth and spontaneous abortion
  Early-onset syndrome: granulomatosis infantiseptica
 Severe systemic infection characterized by disseminated abscesses, which may develop
in any organ system
 Most common findings are respiratory distress syndrome and skin lesions
 May be associated with signs of meningitis
 Transmission during birth, postnatally via contact with the mother or environment
 Late-onset syndrome (5 days to 3 weeks after birth) : Listeria meningitis/encephalitis
 Diagnosis: culture from blood or CSF samples (pleocytosis)
 Treatment: IV ampicillin and gentamicin for both pregnant women and newborns
 Prevention
 Avoiding soft cheeses
 Food and water safety measures
 Nationally notifiable condition

Congenital and perinatal varicella infection

 Epidemiology: Seroprevalence in the general population is ∼ 95% → most mothers

already have immunity → rare in newborns
 Pathogen: varicella-zoster virus (VZV)
 Transmission
 Pregnant women: See learning cards on chickenpox and shingles.
 Fetus
 Vertical transmission during pregnancy or delivery
 Postnatally from infected individuals
 Clinical features

Onset Characteristic features

Congenital varicella Hypertrophic scars (cicatricial skin lesions)
syndrome (infection Limb defects (e.g., hypoplasia)
during the first and Ocular defects (e.g., chorioretinitis, cataracts, microphthalmus)
second trimester)  CNS defects (e.g., cortical atrophy, seizures, intellectual disability)

Neonatal varicella  Mild infection (maternal exanthem > 5 days before birth)
 Severe infection (maternal exanthem < 5
days before birth): hemorrhagic exanthem, encephalitis, pneumonia,
or congenital varicella syndrome (mortality rate of up to 30%)

 Diagnosis
 Newborn and pregnant women: usually a clinical diagnosis based on appearance of skin
lesions (see the chickenpox and/or shingles learning cards for more details)
  DFA or PCR of fluid collected from blisters or CSF
 Serology
 Fetus: PCR for VZV DNA (in fetal blood, amniotic fluid) and ultrasound to detect fetal
abnormalities
 Treatment
 For pregnant women or newborns with severe infection: acyclovir
 Administer postexposure prophylaxis in newborn infants if the mother displays
symptoms of varicella < 5 days before delivery → IgG antibodies(varicella-
zoster immune globulin, or VZIG)
 Breastfeeding is encouraged for possible protective effect of antibodies in breast milk
 Prevention
 Immunization of seronegative women before pregnancy
 VZIG in pregnant women without immunity within 10 days of exposure
 Nationally notifiable condition

Congenital parvovirus B19 infection

 Epidemiology: incidence of acute parvovirus B19 infection in pregnancy ∼

5% (especially high in daycare workers and elementary school teachers)
 Pathogen: parvovirus B19
 Transmission
 Pregnant women: See the learning card on fifth disease.
 Fetus: transplacental transmission from infected mother
 Clinical features
 Severe anemia and possibility of fetal hydrops
 Fetal demise and miscarriage or stillbirth in up to 10% of cases (the risk is highest in the
first and second trimester)
 Most intrauterine infections do not result in fetal developmental defects.
 Diagnosis
 Seronegative pregnant woman: serologic assays for IgG and IgM against parvovirus B19
 Positive IgM and negative IgG → very recent infection (refer to specialist), or false
positive (repeat testing)
 Positive IgM and IgG → acute infection (refer to specialist)
 Positive IgG and negative IgM → maternal immunity (reassurance)
 Negative IgG and negative IgM → mother has no immunity (counseling)
 Fetus
 PCR for parvovirus B19 DNA (amniotic fluid or blood)
 In suspected hydrops fetalis: doppler ultrasound of fetal vessels
 Treatment: In cases of severe fetal anemia: intrauterine fetal blood transfusion
 Preventing: hand hygiene
Congenital rubella infection

 Epidemiology: rare because of vaccination

 Pathogen: rubella virus
 Transmission
 Pregnant women: See learning card on rubella.
 Fetus: transplacental from infected mother
 Risk of congenital rubella syndrome
 Infection in the first trimester (period of organogenesis), especially from 1–11
weeks' gestation → 90% risk
 Infection between 16–20 weeks' gestation → very low risk (< 1%)
 Infection at > 20 weeks' gestation → no documented cases of congenital rubella
syndrome
 Clinical features
 Miscarriage, preterm birth, fetal growth restriction, especially if infection occurs during
the first trimester
 Congenital rubella syndrome: antenatal manifestations of intrauterine rubella infection
 Triad of congenital rubella syndrome

 Cataracts (later in life other eye problems may manifest, e.g., glaucoma, salt and pepper
retinopathy)

 Cochlear defect → bilateral sensorineural hearing loss

 Cardiac defect (most common defects: patent ductus arteriosus, pulmonary

artery stenosis)
 Additional non-specific clinical features
 Early
 Hepatosplenomegaly, jaundice
 Hemolytic anemia, thrombocytopenia
 Petechiae and purpura (blueberry muffin rash)
 Transient meningitis, and/or encephalitis
 Pneumonia
 Late
 CNS defects: microcephaly, intellectual disability, panencephalitis
 Skeletal abnormalities
 Endocrine disorders (e.g., diabetes, thyroid dysfunction)
 Vascular disease
 Immune defects
 Diagnosis
 Newborn and pregnant women
 PCR for rubella RNA (throat swab, CSF)
  Serology (IgM antibodies, IgG antibodies in abnormally high or persistent
concentrations)
 Viral culture (nasopharynx, blood)
 Fetus
 IgM antibody serology (chorionic villi, amniotic fluid)
 PCR for rubella RNA (chorionic villi, amniotic fluid)
 Treatment
 Intrauterine rubella infection
 < 16 weeks: counsel to terminate pregnancy
 > 16 weeks: reassurance
 Congenital rubella syndrome: supportive care (based on individual disease
manifestations) and surveillance (including monitoring for late-term complications)
 Prevention
 Immunization of seronegative women before pregnancy
 Nationally notifiable condition: Suspected congenital rubella syndrome should be
reported to the local or state health department.

Triad congenital rubella syndrome: CCC = Cataracts, Cochlear defect, Cardiac abnormality

Congenital CMV infection

 Epidemiology: ∼ 1% of live births in the US

 Pathogen: cytomegalovirus (CMV), a member of the herpesvirus family
 Transmission
 Mother: See learning card on cytomegalovirus infection.
 Fetus: transplacental from an infected mother
 Newborn: transmission during birth or postnatal transmission via breastmilk from an
infected mother
 Clinical features
 ∼ 90% with subclinical infection → ∼ 10% of these develop at least some late
complications (especially hearing loss)
 ∼ 10% with symptomatic infection at birth → ∼ 70–80% of these develop late
complications
 Fetal infection Sequelae of fetal and newborn infection
 ↑ Risk of fetal demise  CNS findings
 Intrauterine growth restriction  Abnormalities on brain imaging in 70% of
 Oligohydramnios or polyhydramnios, placentalabno symptomatic infants (e.g., periventricular
rmalities calcifications)
 Ultrasonographic signs of CMV  Hydrocephalus, intraventricular
infection: periventricular hemorrhage
calcifications, hyperechogenic foci(bowel, liver,  Microcephaly
and ascites), and hydrops  Sensorineural hearing loss (∼ 30%)
 Chorioretinitis (∼ 10%)
 Nonspecific findings (similar to other
TORCH
infections): petechiae and purpura (bluebe
rry muffin rash)
, hepatosplenomegaly and jaundice, small
for gestational age (SGA), seizures,
lethargy, poor suck, hemolytic
anemia, thrombocytopenia, pneumonia
 Late complications: hearing loss, vision
impairment, psychomotor retardation,
intellectual disability, and dental
abnormalities

 Diagnosis
 Newborn or pregnant women:
 CMV IgM antibodies (blood)
 Viral culture or PCR for CMV DNA (urine, saliva)
 Fetus
 Viral culture or PCR for CMV DNA (amniotic fluid)
 CMV IgM antibodies (fetal blood)
 Treatment
 Fetus: intrauterine blood and platelet transfusions for
severe anemia and thrombocytopenia
 Newborns and pregnant women:
 Antivirals: ganciclovir (IV) and valganciclovir (oral) are the drugs of choice.
 For newborns: supportive therapy of fluid and electrolyte
imbalances, anemia and thrombocytopenia, seizures, secondary infections, etc.
 Prevention
 Frequent hand washing, especially after touching diapers or bodily secretions of small
children
 Avoidance of food sharing with and kissing small children
Herpes simplex virus infection in the newborn

 Epidemiology: incidence is ∼ 1/3,000–10,000 live births

 Pathogen: primarily herpes simplex virus 2 (HSV-2); in rare cases, HSV-1
 Transmission
 Pregnant women: See learning card on herpes simplex virus infections.
 Fetus: Intrauterine transmission of HSV is rare.
 Newborn: primary HSV infection in the genital tract of the mother → perinatal
transmission during birth (∼ 30% transmission rate if the mother has not yet undergone
seroconversion at the time of delivery)
 Clinical features

Onset Characteristic features

Intrauterine infection  Fetal demise, preterm birth, very low birth weight
(congenital herpes simplex Microcephaly, hydrocephalus, and other CNS defects
virus infection) (∼ 5%of Microphthalmia → eye damage and chorioretinitis
cases)  Vesicular skin lesions

Perinatal (85% of cases) Skin, eye, and mouth disease (∼ 45%): vesicular skin
und postnatal lesions, keratoconjunctivitis → cataracts and chorioretinitis,
transmission (10% of vesicular lesions of the oropharynx
cases)  CNS disease (∼ 30%): meningoencephalitis (e.g., fever or low
body temperature, lethargy, irritability, poor feeding, seizures,
bulging fontanelle) and possibly vesicular skin lesions
 Disseminated disease (∼ 25%): clinical findings similar
to sepsis with involvement of organs
(e.g., liver, CNS, lungs, heart, adrenals, bone marrow and
blood, kidneys, GI tract), vesicular skin lesions, which may
appear late in the disease course

 Diagnosis
 Newborn and pregnant women: typically a clinical diagnosis in women
 Standard: Viral culture of HSV from skin lesions, conjunctiva, oro- or nasopharynx,
rectum
 Alternative: PCR for HSV DNA (CSF, blood)
 Treatment
 For both neonates and pregnant women: IV acyclovir or valaciclovir
 For neonates: Supportive therapy of fluid and electrolyte imbalances, SIRS and septic
shock, seizures, secondary infections, etc.
 Prevention
  If a history of HSV lesions are known → antiviral therapy (acyclovir) beginning at 36
weeks of gestation
 Cesarean section in women with active genital lesions or prodromal symptoms (e.g.,
burning, pain)

HSV should be considered in infants up to 6 weeks of age with vesicular skin lesions, symptoms
of meningitis/encephalitis or sepsis, or persistent fever and negative cultures. A high index of
suspicion is warranted in neonatal HSV. Skin, eye, and mouth disease has a good prognosis if
detected and treated early!