All of the following statements are true about congenital rubella except

Infection after 16 weeks of gestation results in major congenital defects

It is diagnosed when IgG antibodies persist for more than 6 months

It is diagnosed when the infant has IgM antibodies at birth

Most common congenital defects are deafness, congenital heart disease and cataract

A 30 month old deaf boy whose development is slower than normal is being followed for congenital cytomegalovirus (CMV) infection in your clinic.The child's mother is pregnant again and is worried about her new baby. Which of the following is true?

The mother has antibodies to CMV that are passed to the fetus

The new infant should be isolated from the older child

Termination of pregnancy is advised

The mother's infection cannot become reactivated

An infant presents with hepatosplenomegaly and thrombocytopenia. Neuroimaging with CT shows periventricular calcifications. What is the most likely diagnosis?

Congenital cytomegalovirus infection

Congenital herpes simplex virus infection

Congenital Infections for FMGE: High-Yield Pediatrics Lessons

TORCH Infections Intro - Prenatal Peril Primer

Congenital infections: Infections transmitted from mother to child during pregnancy (prenatal) or around childbirth (perinatal).
📌 TORCH complex: A group of common, significant congenital pathogens:
- Toxoplasmosis
- Other (e.g., Syphilis, Varicella-Zoster, Parvovirus B19, Zika)
- Rubella
- Cytomegalovirus (CMV)
- Herpes Simplex Virus (HSV)
Transmission routes:
- Transplacental (hematogenous spread across placenta)
- Perinatal (ascending infection or during passage through birth canal)
Timing vs. Severity: Earlier gestational infection (especially <16-20 weeks or 1st trimester) often leads to ↑ severe fetal outcomes.

⭐ Cytomegalovirus (CMV) is the most common congenital viral infection globally.

Toxoplasmosis & Rubella - Parasite & Rash Pair

Feature	Toxoplasmosis	Rubella (German Measles)
Agent	Toxoplasma gondii (parasite)	Rubella virus (Togavirus)
Key Features	📌 Triad: Chorioretinitis, Hydrocephalus, Intracranial calcifications (diffuse). Rash, hepatosplenomegaly.	📌 Triad: Cataracts, Deafness (sensorineural), Cardiac defects (PDA, PPS). "Blueberry muffin" rash. IUGR.
Diagnosis	Serology (IgM, IgG); PCR (amniotic fluid). Head US/CT.	Serology (IgM, IgG); PCR (nasopharyngeal, urine, amniotic fluid).
Management	Pyrimethamine + Sulfadiazine + Folinic acid (for 1 year).	Symptomatic; supportive care. Early intervention for defects.
Prevention	Avoid raw meat, cat litter. Spiramycin (if acute maternal infection).	MMR vaccine (pre-pregnancy). Avoid pregnancy for 1 month post-vaccination.

⭐ Congenital Rubella Syndrome (CRS) risk is highest (up to 90%) if maternal infection occurs in the first 10-12 weeks of gestation.

CMV & HSV - Viral Villains Unveiled

TORCHES Infections Overview

⭐ Sensorineural hearing loss (SNHL) is the most common long-term sequela of congenital CMV infection.

Feature	Cytomegalovirus (CMV)	Herpes Simplex Virus (HSV)
Agent	DNA virus (Herpesviridae)	DNA virus (Herpesviridae)
Key Features	- Periventricular calcifications - Sensorineural hearing loss (SNHL) - Chorioretinitis, microcephaly - Hepatosplenomegaly, petechiae	- Skin, Eye, Mouth (SEM): vesicular lesions - CNS: seizures, encephalitis - Disseminated: multi-organ, sepsis-like
Diagnosis	- Urine/saliva PCR or culture (within 3 weeks of birth)	- PCR from lesions, CSF, blood; Viral culture
Management	- Ganciclovir / Valganciclovir (symptomatic CNS/severe)	- Acyclovir IV (14-21 days)
Prevention	- Strict hygiene; Screen blood/organ donors	- Maternal acyclovir (3rd trimester if recurrent); C-section if active genital lesions
Mnemonic	📌 Most common congenital infection.	📌 Acyclovir is key for treatment.

Syphilis & Others - Spirochete & Sundry Syndromes

Congenital Syphilis (T. pallidum):
- Early (<2 yrs): Snuffles (rhinitis), maculopapular rash (palms/soles), hepatosplenomegaly, osteochondritis (Parrot's pseudoparalysis), condyloma lata.
- Late (>2 yrs): 📌 Hutchinson's triad (Interstitial keratitis, Peg-shaped incisors, 8th nerve deafness), mulberry molars, saber shins, Clutton's joints.
  
  ⭐ "Snuffles" (copious nasal discharge) is often the earliest and most characteristic sign of congenital syphilis.
- Dx: VDRL/RPR; confirm FTA-ABS. Darkfield microscopy. X-ray long bones (osteochondritis, periostitis).
- Mgmt: Penicillin G.
Other Congenital Infections:
- VZV (Varicella): Limb hypoplasia, cicatricial skin lesions (zig-zag), chorioretinitis, microcephaly. Risk: maternal infection 1st/2nd trimester.
- Parvovirus B19: Hydrops fetalis, severe anemia, aplastic crisis.
- HIV: Risk ↓ with maternal ART. Dx: HIV DNA/RNA PCR (not Ab <18mo). Prophylaxis: Nevirapine/Zidovudine.
- Zika Virus: Microcephaly, intracranial calcifications, ocular abnormalities, arthrogryposis.

High‑Yield Points - ⚡ Biggest Takeaways

CMV: Most common congenital infection; key features include periventricular calcifications, microcephaly, and sensorineural hearing loss (SNHL).

Toxoplasmosis: Presents with the classic triad of chorioretinitis, hydrocephalus, and diffuse intracranial calcifications.

Rubella: Characterized by cataracts, SNHL, patent ductus arteriosus (PDA), and often a "blueberry muffin" rash.

Congenital Syphilis: Early signs include snuffles and maculopapular rash; late stigmata include Hutchinson teeth and saber shins.

Neonatal HSV: Manifests with skin vesicles, keratoconjunctivitis, and seizures; disseminated disease has high mortality.

Parvovirus B19: Can lead to hydrops fetalis, severe anemia, and pure red cell aplasia in the fetus/newborn.

Zika Virus: Associated with microcephaly and other severe fetal brain defects; can also cause Guillain-Barré syndrome in adults/children.

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