3. • You are taking care of a term newborn
male with birth weight/length <10th %ile.
Physical exam is normal except for a
slightly enlarged liver span. A CBC is
significant for low platelets.
• What, if anything, do you worry about?
• How do you proceed with a work-up?
4. Index of Suspicion
• When do you think of TORCH
infections?
• IUGR infants
• HSM
• Thrombocytopenia
• Unusual rash
• Concerning maternal history
• “Classic” findings of any specific infection
6. 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…
• Again, DO NOT USE TORCH TITERS!
7. Screening TORCH Infections
• Retrospective study of 75/182 infants with IUGR who
were screened for TORCH infections
• 1/75 with clinical findings, 11/75 with abnl lab findings
• All patients screened:
• TORCH titers, urine CMV culture, head US
• Only 3 diagnosed with infection
• NONE by TORCH titer!!
• Overall cost of all tests = $51,715
• “Shotgun” screening approach NOT cost effective nor
particularly useful
• Diagnostic work-up should be logical and directed by
history/exam findings
Khan, NA, Kazzi, SN. Yield and costs of screening growth-retarded infants for torch
8. 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 with infxn in 3rd trimester
• Fetal death higher with infxn in 1st trimester
9. Clinical Manifestations
• Most (70-90%) are asymptomatic at birth
• Classic triad of symptoms:
• Chorioretinitis
• Hydrocephalus
• Intracranial calcifications
• Other symptoms include fever, rash, HSM,
microcephaly, seizures, jaundice,
thrombocytopenia, lymphadenopathy
• Initially asymptomatic infants are still at high risk
of developing abnormalities, especially
chorioretinitis
11. Diagnosis
• Maternal IgG testing indicates past
infection (but when…?)
• Can be isolated in culture from
placenta, umbilical cord, infant serum
• PCR testing on WBC, CSF, placenta
• Not standardized
• Newborn serologies with IgM/IgA
12. Toxo Screening
• Prenatal testing with varied sensitivity
not useful for screening
• Neonatal screening with IgM testing
implemented in some areas
• Identifies infected asymptomatic infants
who may benefit from therapy
13. Prevention and Treatment
• Treatment for pregnant mothers diagnosed with acute toxo
• Spiramycin daily
• Macrolide antibiotic
• Small studies have shown this reduces likelihood of congenital
transmission (up to 50%)
• If infant diagnosed prenatally, treat mom
• Spiramycin, pyrimethamine (anti-malarial, dihydrofolate reductase
inhib), and sulfadiazine (sulfa antibiotic)
• Leucovorin rescue with pyrimethamine
• 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)
14. Syphilis
• Treponema pallidum (spirochete)
• Transmitted via sexual contact
• Placental transmission as early as 6wks
gestation
• Typically occurs during second half
• Mom with primary or secondary syphilis more
likely to transmit than latent disease
• Large decrease in congenital syphilis since
late 1990s
• In 2002, only 11.2 cases/100,000 live births
reported
17. Congenital Syphilis
• 2/3 of affected live-born infants are
asymptomatic at birth
• Clinical symptoms split into early or late
(2 years is cutoff)
• 3 major classifications:
• Fetal effects
• Early effects
• Late effects
18. Clinical Manifestations
• Fetal:
• Stillbirth
• Neonatal death
• Hydrops fetalis
• Intrauterine death in 25%
• Perinatal mortality in 25-30% if
untreated
23. Diagnosing Syphilis
(Not in Newborns)
• Available serologic testing
• RPR/VDRL: nontreponemal test
• Sensitive but NOT specific
• Quantitative, so can follow to determine disease activity
and treatment response
• MHA-TP/FTA-ABS: specific treponemal test
• Used for confirmatory testing
• Qualitative, once positive always positive
• RPR/VDRL screen in ALL pregnant women
early in pregnancy and at time of birth
• This is easily treated!!
24. CDC Definition of Congenital
Syphilis
• Confirmed if T. pallidum identified in skin
lesions, placenta, umbilical cord, or at
autopsy
• Presumptive diagnosis if any of:
• Physical exam findings
• CSF findings (positive VDRL)
• Osteitis on long bone x-rays
• Funisitis (“barber shop pole” umbilical cord)
• RPR/VDRL >4 times maternal test
• Positive IgM antibody
25. Diagnosing Congenital Syphilis
• IgG can represent maternal antibody,
not infant infection
• This is VERY intricate and often
confusing
• Consult your RedBook (or peds ID folks)
when faced with this situation
26. 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
• Mom was treated <4wks before delivery
• Mom treated with non-PCN med
• Maternal titers do not show adequate response
(less than 4-fold decline)
27. Rubella
• Single-stranded RNA virus
• Vaccine-preventable disease
• No longer considered endemic in the U.S.
• Mild, self-limiting illness
• Infection earlier in pregnancy has a
higher probability of affected infant
31. Diagnosis
• Maternal IgG may represent immunization or
past infection - Useless!
• 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
33. Cytomegalovirus (CMV)
• Most common congenital viral infection
• ~40,000 infants per year in the U.S.
• Mild, self limiting illness
• Transmission can occur with primary infection
or reactivation of virus
• 40% risk of transmission in primary infxn
• Studies suggest increased risk of
transmission later in pregnancy
• However, more severe sequalae associated with
earlier acquisition
34. Clinical Manifestations
• 90% are asymptomatic at birth!
• Up to 15% develop symptoms later,
notably sensorineural hearing loss
• Symptomatic infection
• SGA, HSM, petechiae, jaundice,
chorioretinitis, periventricular calcifications,
neurological deficits
• >80% develop long term complications
• Hearing loss, vision impairment, developmental
delay
36. 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
• Less useful for diagnosis, but helps in following
viral activity in patient
• Serologies not helpful given high antibody in
population
37. Treatment
• Ganciclovir x6wks in symptomatic infants
• Studies show improvement or no progression of
hearing loss at 6mos
• No other outcomes evaluated (development, etc.)
• Neutropenia often leads to cessation of therapy
• Treatment currently not recommended in
asymptomatic infants due to side effects
• Area of active research to include use of
valgancyclovir, treating asx patients, etc.
38. Herpes Simplex (HSV)
• HSV1 or HSV2
• Primarily transmitted through infected
maternal genital tract
• Rationale for C-section delivery prior to
membrane rupture
• Primary infection with greater
transmission risk than reactivation
39. 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)
• Initial manifestations very nonspecific with
skin lesions NOT necessarily present
41. Diagnosis
• Culture of maternal lesions if present at
delivery
• Cultures in infant:
• Skin lesions, oro/nasopharynx, eyes, urine, blood,
rectum/stool, CSF
• CSF PCR
• Serologies again not helpful given high
prevalence of HSV antibodies in population
42. Treatment
• High dose acyclovir 60mg/kg/day
divided q8hrs
• X21days for disseminated, CNS disease
• X14days for SEM
• Ocular involvement requires topical
therapy as well
43.
44. Which TORCH Infection Presents
With…
• Snuffles?
• syphilis
• Chorioretinitis, hydrocephalus, and
intracranial calcifications?
• toxo
• Blueberry muffin lesions?
• rubella
• Periventricular calcifications?
• CMV
• No symptoms?
• All of them
