The document discusses various TORCH infections that can affect newborns including toxoplasmosis, syphilis, rubella, cytomegalovirus, and herpes simplex virus. It provides details on the causative agents, routes of transmission, clinical manifestations, diagnosis, and treatment of each infection. A key point is that many TORCH infections cause no symptoms at birth but can lead to long-term complications so screening and treatment are important. Maternal immunization and treatment can help prevent some infections like rubella and syphilis from affecting newborns.

2. TORCH Infections
• T=Toxoplasmosis
• O=Other ( Syphilis, HIV,Hep B ……)
• R=Rubella
• C=Cytomegalovirus (CMV)
• H=Herpes simplex (HSV)

3. Case scenario
• 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?

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

5. 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.

6. TOXOPLASMOSIS

7. Toxoplasmosis
• Caused by protozoan – Toxoplasma gondii.
• Much higher prevalence of infection in European
countries (ie France, Greece).
• Incidence 1- 10 per 10000 live births.

9. Toxoplasmosis
• Domestic cat is the definitive host with
infections via:
▫ Ingestion of cysts (meats, garden products)
▫ Contact with oocysts in feces
• Acute infection in adults usually asymptomatic
(90%)
• 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

10. Pnemonic – R C T
• RUBELLA - 1 ST TRIMESTER
• CYTOMEGALOVIRUS - 2 ND TRIMESTER
• TOXOPLASMOSIS - 3 RD TRIMESTER

11. Clinical Manifestations
• Most (70-90%) are asymptomatic at birth
• Classic triad of symptoms: {HCC}
▫ Hydrocephalus
▫ Chorioretinitis
▫ 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

12. Hydrocephalus, Calcification & Chorioretinitis
THE TRIAD

13. AND LATER LEADS TO………..

14. Diagnosis – A REAL CHALLENGE
• Maternal IgG testing indicates past infection.
• Congenital toxo. Diagnosis in newborn based on
CLINICAL SUSPICION + SEROLOGY
• Most cases ( 70 -90%) ASYMPTOMATIC.
Missed if SCREENING TESTS not done.
• Can be isolated in culture from placenta,
umbilical cord, infant serum – NOT READILY
AVAILABLE.
• PCR testing on blood,CSF, placenta
▫ Not standardized
• Newborn serologies with IgM/IgA

15. Toxo Screening
• Neonatal screening with IgM testing
implemented in some areas
▫ Identifies infected asymptomatic infants who may
benefit from therapy

16. 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 mother
▫ 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)

17. RUBELLA
•

18. RUBELLA
• Single-stranded RNA virus
• Vaccine-preventable disease
• Mild, self-limiting illness
• Infection earlier in pregnancy has a higher
probability of affected infant
• { R C T remember??????)

19. Copyright ©2006 American Academy of PediatricsMeissner, H. C. et al. Pediatrics 2006;117:933-935
Reported rubella and CRS: United States, 1966-2004

21. Clinical Manifestations
• Sensorineural hearing loss (50-75%) GREG
• Cataracts and Retinopathy(20-50%) SYN.
• Cardiac malformations (20-50%)
• Neurologic (10-20%) – MR,Language
delay,microcephaly.
• Others include growth retardation, bone disease,
HSM, thrombocytopenia.

22. 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.

23. Treatment
• Prevention…immunize, immunize, immunize!
• Supportive care only with parent education.
• No specific treatment.

24. CYTOMEGALOVIRUS
(CMV)
BLUEBERRY
MUFFIN

25. 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 infection
• Studies suggest increased risk of transmission in
2 nd trimester of pregnancy { Remember R C T}
▫ However, more severe sequelae associated with earlier
acquisition

26. Clinical Manifestations
• 90% are asymptomatic at birth!
▫ Up to 15% develop symptoms later, notably
sensorineural hearing loss
{MC CAUSE OF SN. HEARING LOSS IN
CHILDREN}
• Symptomatic infection
▫ SGA, HSM, petechiae, jaundice, chorioretinitis,
periventricular calcifications, neurological
deficits
▫ >80% develop long term complications
 Hearing loss, vision impairment, developmental
delay

27. “Blueberry muffin” spots representing
extramedullary hematopoesis

28. “Blueberry muffin” spots representing
extramedullary hematopoesis

29. Ventriculomegaly
and calcifications of
congenital CMV

30. Diagnosis
• Maternal IgG shows only past infection
▫ Infection common – this is useless
• Viral isolation from urine or saliva in 1st
3weeks
of life – CULTURE – GOLD STANDARD.
▫ Afterwards may represent post-natal infection
• Viral load and DNA copies can be assessed by
PCR > 3 WKS
▫ Less useful for diagnosis, but helps in following viral
activity in patient
• Serologies not helpful given high antibody in
population !!!!!!!!!

31. 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

32. HERPES SIMPLEX

33. 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

34. 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

35. Presentations of congenital HSV

36. 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

37. Treatment
• High dose acyclovir 60mg/kg/day divided q8hrs
▫ X 21days for disseminated, CNS disease
▫ X 14days for SEM

38. SYPHILIS

39. 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
• Large decrease in congenital syphilis since late
1990s
▫ In 2002, only 11.2 cases/100,000 live births reported

40. From MMWR –From MMWR –
Aug 2004Aug 2004

41. 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

42. Clinical Manifestations
• Fetal:
▫ Stillbirth
▫ Neonatal death
▫ Hydrops fetalis
• Intrauterine death in 25%
• Perinatal mortality in 25-30% if untreated

43. Clinical Manifestations
• Early congenital (typically 1st
5 weeks):
▫ Cutaneous lesions (palms/soles)
▫ HSM
▫ Jaundice
▫ Anemia
▫ Snuffles
▫ Periostitis
▫ Rhegades

44. Snuffles and Rhegades

45. Periostitis of long bones seen
in neonatal syphilis

46. Clinical Manifestations
• Late congenital:
▫ Frontal bossing
▫ Short maxilla
▫ High palatal arch
▫ Hutchinson teeth
▫ 8th
nerve deafness
▫ Saddle nose
▫ Perioral fissures
• Can be prevented with appropriate treatment

47. Hutchinson teeth – late result of
congenital syphilis

48. 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!!

49. 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
▫ RPR/VDRL >4 times maternal test
▫ Positive IgM antibody

50. 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
▫ Mother treated with non-PCN med
▫ Maternal titers do not show adequate response (less
than 4-fold decline)

51. Which TORCH Infection Presents
With…
• Snuffles?
▫ syphilis
• Hydrocephalus,Chorioretinitis,and
intracranial calcifications {HCC} ?
▫ toxo
• Blueberry muffin lesions?
▫ CMV
• Periventricular calcifications?
▫ CMV
• No symptoms?
▫ All of them !!!!!!

52. Which TORCH Infections Can
Absolutely Be Prevented?
• Rubella
• Syphilis

53. THANK YOU