Congenital TORCH infections Flashcards
TORCH infections
TORCH infections: vertically transmitted infections that are capable of significantly influencing fetal and neonatal morbidity and mortality
Toxoplasmosis
Others (e.g., syphilis, varicella, parvovirus B19 infection, listeriosis)
Rubella
Cytomegaly (CMV)
Herpes simplex virus (HSV) infection
Congenital toxoplasmosis: pathogen and life cycle
Pathogen: Toxoplasma gondii
Life cycle of Toxoplasma gondii: Transmission - Mother; Cat feces; Raw or insufficiently cooked meat; Transplacental transmission
congenital toxoplasmosis: clinical features
Clinical features First trimester Classic triad of toxoplasmosis Chorioretinitis (a form of posterior uveitis) Diffuse intracranial calcifications Hydrocephalus Possible other nonspecific clinical features Petechiae and purpura (blueberry muffin rash) Lymphadenopathy Sequelae of congenital toxoplasmosis Epilepsy Blueberry muffin syndrome
congenital toxoplasmosis: Diagnostics
Fetus: PCR for T. gondii DNA
Newborn
CT/MRI: intracranial calcifications, hydrocephalus, ring-enhancing lesions
T. gondii-specific IgM antibodies
PCR for T. gondii DNA
Ophthalmological evaluation: chorioretinitis
Congenital toxoplasmosisCerebral toxoplasmosisMacular scar in congenital toxoplasmosis
congenital toxoplasmosis: treatment and prevention
Treatment
Mother: spiramycin
Fetus: pyrimethamine, sulfadiazine, and folinic acid
Newborn: pyrimethamine, sulfadiazine, and folinic acid
Prevention
Avoid raw, undercooked, and cured meats.
Avoid contact with cat litter.
Congenital syphilis: Pathogen
Pathogen: Treponema pallidum
Transmission: Mother: Sexual contact; Fetus: transplacental transmission from infected mother
Neonate: perinatal transmission during birth
Congenital syphilis: Clinical features
Clinical features
Early congenital syphilis (onset < 2 years of age)
Hepatomegaly and jaundice
Rhinorrhea
Maculopapular rash on palms and soles
Skeletal abnormalities
Generalized lymphadenopathy (nontender)
Late congenital syphilis (onset > 2 years of age)
saddle nose, frontal bossing
Hutchinson’s teeth (notched, widely spaced teeth); mulberry molars (poorly developed first molars)
interstitial keratitis, sensorineural hearing loss
saber shins
cranial nerve palsies (e.g., CN VIII defect causing deafness)
Skin alterations in congenital syphilisHutchinson’s Teeth resulting from congenital syphilis
Congenital syphilis: Diagnosis; Treatment; Prevention
Diagnosis
Newborn and mother
Initial test: RPR or VDRL (serum)
Confirmatory test: dark-field microscopy or PCR of lesions or bodily fluids
Fetus: repeated ultrasound examinations (placentomegaly, hepatomegaly, ascites, and/or hydrops fetalis)
Spirochetes on dark-field microscopy
Treatment: IV penicillin G for both pregnant women and newborns
Prevention: Maternal screening
Congenital listeriosis: Pathogen and Transmission
Pathogen: Listeria monocytogenes
Transmission: Mother; Contaminated food: especially raw milk products; Other possible sources: meat
Fetus
Transplacental transmission from an infected mother
Direct contact with infected vaginal secretions and/or blood during delivery
Congenital listeriosis: Clinical features
Intrauterine transmission
Increased risk of premature birth and spontaneous abortion
Early-onset syndrome: granulomatosis infantiseptica
Severe systemic infection characterized by disseminated abscesses
Most common findings: respiratory distress and skin lesions
Signs of meningitis may already develop.
Transmission during birth or postnatally (via contact with the mother or contaminated environment)
Late-onset syndrome (5 days to 3 weeks after birth): Listeria meningitis/encephalitis
Congenital listeriosis: Diagnosis; Treatment; Prevention
Diagnosis
Culture from blood or CSF samples (pleocytosis)
Treatment
IV ampicillin and gentamicin
Prevention
Avoidance of soft cheeses
Avoidance of potentially contaminated water and food
Congenital varicella infection: pathogen; transmission
Pathogen: Varicella-zoster virus (VZV)
Transmission: Mother
Primary infection: Airborne droplets; Direct skin contact with vesicle fluid
Reactivation: usually in immunocompromised individuals
Fetus: transplacental transmission from an infected mother
Congenital varicella infection: Clinical features
Congenital varicella syndrome (infection during first and second trimester)
Hypertrophic scars (cicatricial skin lesions)
Limb defects (e.g., hypoplasia)
cataracts
cortical atrophy
Neonatal varicella Mild infection (maternal exanthem > 5 days before birth) Severe infection (maternal exanthem < 5 days before birth): hemorrhagic exanthem; congenital varicella syndrome
Congenital varicella infection: Diagnosis
Newborn and mother
Usually clinical diagnosis is confirmed by appearance of skin lesions
DFA or PCR of fluid collected from blisters or cerebrospinal fluid (CSF)
Serology
Fetus: PCR for VZV DNA
Congenital varicella infection: Treatment and prevention
Treatment: acyclovir
Administer postexposure prophylaxis in newborns if mother displays symptoms of varicella < 5 days before delivery: IgG antibodies (varicella-zoster immune globulin, VZIG)
Cesarean section if lesions are present at delivery
Prevention: Immunization of seronegative women before pregnancy
VZIG in pregnant women without immunity within 10 days of exposure
Congenital parvovirus B19 infection: pathogen and transmission
Pathogen: Parvovirus B19
Transmission: transplacental transmission from infected mother
Congenital parvovirus B19 infection: Clinical features
Severe anemia and possibly fetal hydrops
Fetal demise and miscarriage/stillbirth
Most intrauterine infections do not result in fetal developmental defects.
Congenital parvovirus B19 infection: Diagnosis and treatment
Diagnosis
Mother: serologic assays for IgG and IgM against parvovirus B19
Positive IgM and negative IgG: very recent infection
Positive IgM and IgG: acute infection
Positive IgG and negative IgM: maternal immunity
Negative IgG and negative IgM: no maternal immunity
Fetus
PCR for parvovirus B19 DNA (amniotic fluid or blood)
Treatment
Intrauterine fetal blood transfusion
Congenital rubella infection: pathogen and transmission
Pathogen: Rubella virus
Transmission: Mother - airborne droplets; Fetus - Transplacental from infected mother
Risk of congenital rubella syndrome
In the first trimester (period of organogenesis): 90%
> 20 weeks gestation: no documented cases
Congenital rubella infection: Clinical features
Miscarriage, preterm birth, fetal growth restriction
Congenital rubella syndrome
Triad of congenital rubella syndrome
Cataracts: Other eye manifestations may also occur later in life (e.g., salt and pepper retinopathy, glaucoma).
Cochlear defect: bilateral sensorineural hearing loss
Cardiac defect: most common defect (e.g., patent ductus arteriosus, pulmonary artery stenosis)
Additional nonspecific clinical features Early Hepatosplenomegaly, jaundice Hemolytic anemia, thrombocytopenia Petechiae and purpura, i.e., blueberry muffin rash (in the case of congenital rubella infection the rash is caused by extramedullary hematopoiesis in the skin) Late CNS defects: microcephaly, intellectual disability Skeletal abnormalities
Congenital rubella infection: Diagnosis
Newborn and mother PCR for rubella RNA Serology Fetus IgM antibody serology PCR for rubella RNA
Congenital rubella infection: treatment and prevention
Treatment
Intrauterine rubella infection
< 16 weeks: Counsel to terminate pregnancy.
> 16 weeks: reassurance
Prevention
Immunization of seronegative women before pregnancy
Congenital CMV infection: pathogen and transmission
Pathogen: Cytomegalovirus
Transmission: Mother: via CMV-contaminated blood, urine, saliva, and genital secretions; Sexual transmission; Transplant-transmitted infection; Fetus: transplacental transmission from an infected mother
Newborn: postnatal via breastmilk from infected mother
Congenital CMV infection: Clinical features
Symptomatic infection at birth (∼ 10%) Fetal infection Intrauterine growth restriction hyperechogenic foci Sequelae of fetal and newborn infection CNS findings Abnormalities on brain imaging in 70% of symptomatic infants (e.g., periventricular calcifications) Microcephaly Sensorineural hearing loss Chorioretinitis Nonspecific findings (similar to other TORCH infections) Petechiae, purpura (blueberry muffin rash) Hepatosplenomegaly, jaundice Small for gestational age (SGA)
Late complications
Hearing loss, vision impairment
Congenital CMV infection: Diagnosis
Fetus and newborn: periventricular calcifications
Newborn and mother
CMV IgM antibodies
Viral culture or PCR for CMV DNA (urine; )
Fetus
Viral culture or PCR for CMV DNA (amniotic fluid)
Congenital CMV infectionCongenital CMV infection
Congenital CMV infection: treatment
Treatment
Fetus
Severe anemia: intrauterine blood transfusions
Thrombocytopenia: platelet transfusions
Newborn
Ganciclovir, valganciclovir, or foscarnet
Congenital herpes simplex virus infection: pathogen and transmission
Pathogen: herpes simplex virus 2 (HSV-2); HSV-1
Transmission: Mother
Primary infection: contact with contaminated oral secretions via small skin lesions
Reactivation: usually in immunocompromised individuals
Fetus: Transplacental transmission from an infected mother (rare)
Newborn: perinatal transmission during birth
Congenital herpes simplex virus infection: Clinical features
Intrauterine HSV infection (congenital herpes simplex virus infection) (∼ 5% of cases) Vesicular skin lesions Perinatal and postnatal transmission Skin, eye, and mouth disease Vesicular skin lesions Keratoconjunctivitis → cataracts, chorioretinitis CNS disease Meningoencephalitis vesicular skin lesions Disseminated disease sepsis Vesicular skin lesions
Congenital herpes simplex virus infection: Diagnosis
Newborn (and mother)
viral culture of HSV from skin lesions
PCR for HSV DNA
Congenital herpes simplex virus infection: Treatment and Prevention
Treatment
IV acyclovir or valaciclovir
Prevention
Antiviral therapy (acyclovir) beginning at 36 weeks of gestation for individuals with a known history of HSV lesions
Cesarean section in women with active genital lesions or prodromal symptoms
