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TORCH infection 1

 TORCH complex is a medical syndrome for a set of


perinatal infections (i.e. infections that are passed
from a pregnant woman to her fetus).
 The TORCH infections can lead to severe fetal
anomalies or even fetal loss.
 They are a group of viral, bacterial, and protozoan
infections that gain access to the fetal bloodstream
transplacentally via the chrionic villi.
 Hematogenous transmission may occur at any time
during gestation or occasionally at the time of delivery
via maternal-to-fetal transfusion.

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TORCH Infections
 T=toxoplasmosis
 O=other (syphilis, measles, chickenpox)
 R=rubella
 C=cytomegalovirus (CMV)
 H=herpes simplex (HSV)

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Diagnosing TORCH Infection
 Good maternal/prenatal history
 Remember most infections of concern are mild illnesses
often unrecognized
 Thorough exam of infant
 Directed labs/studies based on most likely diagnosis

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Toxoplasmosis
 Caused by protozoan – Toxoplasma gondii
 Domestic cat is the definitive host with infections via:
 Ingestion of cysts (meats, garden products)
 Contact with oocysts in feces
 Much higher prevalence of infection in European
countries (ie France, Greece)
 Acute infection usually asymptomatic
 1/3 risk of fetal infection with primary maternal
infection in pregnancy
 Infection rate higher within 3rd trimester
 Fetal death higher within 1st trimester

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Clinical Manifestations
 Most (70-90%) are asymptomatic at birth
 Classic triad of symptoms:
 Chorioretinitis
 Hydrocephalus

 Other symptoms include fever, rash, microcephaly,


seizures, jaundice, thrombocytopenia,
lymphadenopathy
 Initially asymptomatic infants are still at high risk
of developing abnormalities, especially
chorioretinitis

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Chorioretinitis of congenital toxo

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Diagnosis
 Maternal IgG testing indicates past infection
 Can be isolated in culture from placenta, umbilical
cord, infant serum
 PCR testing on WBC, CSF, placenta
 Newborn serologies with IgM/IgA
 ELISA testing of antibodies is also done

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Prevention and Treatment
 Treatment for pregnant mothers diagnosed
with acute toxoplasmosis
 Spiramycin daily
 Macrolide antibiotic
 Small studies have shown this reduces
likelihood of congenital transmission (up to
50%)
 If infant diagnosed prenatally, treat mother
 Spiramycin, pyrimethamine (anti-malarial,
dihydrofolate reductase inhibt), and
sulfadiazine (sulfa antibiotic)
 Leucovorin rescue with pyrimethamine
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 Symptomatic infants
 Pyrimethamine (with leucovorin rescue) and
sulfadiazine
 Treatment for 12 months total
 Asymptomatic infants
 Course of same medications
 Improved neurologic and developmental
outcomes demonstrated (compared to
untreated pts or those treated for only one
month)

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Syphilis
 Treponema pallidum (spirochete)
 Transmitted via sexual contact
 Placental transmission as early as 6wks gestation
 Typically occurs during second half
 Mother with primary or secondary syphilis more
likely to transmit than latent disease

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Congenital Syphilis
 2/3 of affected live-born infants are asymptomatic at
birth
 Clinical symptoms split into early or late (2 years is cut
off)
 3 major classifications:
 Fetal effects
 Early effects
 Late effects

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Clinical Manifestations
 Fetal:
 Stillbirth
 Neonatal death
 Hydrops fetalis
 Intrauterine death in 25%
 Perinatal mortality in 25-30% if untreated

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Clinical Manifestations
 Early congenital (typically 1st 5 weeks):
 Cutaneous lesions (palms/soles)
 Jaundice
 Anemia
 Periostitis and metaphyseal dystrophy
 Funisitis (inflammation of the connective tissue of
umbilical cord ) which may cause abortion.

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Periostitis of long bones seen
in neonatal syphilis

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Clinical Manifestations
 Late congenital:
 Frontal bossing
 Short maxilla
 Hutchinson teeth (gap)
 Saddle nose
 Perioral fissures(skin)
 Can be prevented with appropriate treatment

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Hutchinson teeth – late result of
congenital syphilis

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Diagnosing Syphilis
(Not in Newborns)

Available serologic testing


 RPR/VDRL: non treponemal test
 Sensitive but NOT specific
 We can follow to determine disease activity
and treatment response
 MHA-TP/FTA-ABS: specific treponemal test
 Used for confirmatory testing
 once positive always positive

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Treatment
 Penicillin G is the drug of choice for ALL syphilis
infections
 Maternal treatment during pregnancy very
effective (overall 98% success)
 Treat newborn if:
 They meet CDC diagnostic criteria
 Mother was treated <4wks before delivery

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Measles
 Measles is a viral disease that can be contracted in
pregnancy. Typical koplik’s spots on mucosa of
mouth,skin rashes and fever.
 Fetal and neonatal effects: viruses crosses to
placenta and cause increased abortion.
 vaccine: women who has no measles should have
measles vaccine.

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Chickenpox
 Chicken pox varicella can occure during pregnancy.
Maternal infection shows typical maculopapular spots
on face limbs and trunk.
 Fetal-neonatal infection: virus crosses to fetus in 10%
 Infection during pregnancy: results congenital
malformation like cerebral cortical atrophy,
hydronephrosis.
 Newborn may develop congenital chicken pox.
 treatment: Zoster immune globulin is given to
pregnant women exposed to varicella.
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Rubella
 Single-stranded RNA virus
 Vaccine-preventable disease
 Mild, self-limiting illness
 Infection earlier in pregnancy has a higher probability
of affected infant

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Clinical Manifestations
 Sensorineural hearing loss (50-75%)
 Cataracts and glaucoma (20-50%)
 Cardiac malformations (20-50%)
 Neurologic (10-20%)
 Others to include growth retardation, bone disease,
thrombocytopenia, “blueberry muffin” lesions

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“Blueberry muffin” spots representing
extramedullary hematopoesis

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Diagnosis
 Maternal IgG may represent immunization or
past infection
 Can isolate virus from nasal secretions
 Less frequently from throat, blood, urine, CSF
 Serologic testing
 IgM = recent postnatal or congenital infection
 Rising monthly IgG titers suggest congenital
infection
 Diagnosis after 1 year of age difficult to establish

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Treatment
Immunization
 Supportive care only with parent education

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Cytomegalovirus (CMV)
 Most common congenital viral infection
 Mild, self limiting illness
 Transmission can occur with primary infection
or reactivation of virus
 Studies suggest increased risk of transmission
later in pregnancy

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Clinical Manifestations
 90% are asymptomatic at birth
 Up to 15% develop symptoms later, notably
sensorineural hearing loss(Damage to the structures
in your inner ear or your auditory nerve. It is the
cause of more than 90 percentof hearing loss in
adults.
 Symptomatic infection
 petechiae, jaundice, chorioretinitis, neurological
deficits
 >80% develop long term complications
 Hearing loss, vision impairment, developmental delay

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Diagnosis
 Maternal IgG shows only past infection
 Infection common – this is useless
 Viral isolation from urine or saliva in 1st 3weeks
of life
 Afterwards may represent post-natal infection
 Viral load and DNA copies can be assessed by
PCR.

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Treatment
 Ganciclovir 6wks in symptomatic infants
 Treatment currently not recommended in
asymptomatic infants due to side effects.

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Herpes Simplex (HSV)
 HSV1 or HSV2
 Primarily transmitted through infected maternal
genital tract
 Rationale for C-section delivery prior to membrane
rupture

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Clinical Manifestations
 Most are asymptomatic at birth
 3 patterns of ~ equal frequency with symptoms
between birth and 4wks:
 Skin, eyes, mouth (SEM)
 CNS disease
 Disseminated disease (present earliest)

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Presentations of congenital HSV

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Diagnosis
 Culture of maternal lesions if present at delivery
 Cultures in infant:
 Skin lesions, oro/nasopharynx, eyes, urine, blood,
rectum/stool, CSF
 CSF, PCR

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Treatment
 High dose acyclovir 60mg/kg/day
 Ocular involvement requires topical therapy as well

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Which TORCH Infection Presents With…
 Snuffles?
 syphilis
 Chorioretinitis, hydrocephalus, and intracranial
calcifications?
 toxo
 Blueberry muffin lesions?
 rubella
 Periventricular calcifications?
 CMV

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Which TORCH Infections Can Absolutely Be
Prevented?
 Rubella

 Syphilis

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Thank you

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