بسم الله الرحمن الرحيم

1. بسم الله الرحمن الرحيم

2. TORCHs Complex And CRS PROFESSOR KARIMI PIRC

3. Routine prenatal screening • Difficult interpretation • Different methods for IgM assay (sp.- ppv: 50%-99%) • Mother IgM may last for 3-12 months • Cost effectiveness: 3/75 of IUGR patients : probable TORCHs So <<U/S +Ag detection and or IgM avidity test>> Or in some area <<Srologic tests for Rubella and Syphilis>>

4. 0 3wk 6wk + : …… : No interaction - ……. + …….. :Infection occured - ……. - ……. + : // // - ……. - ....... - : No interaction Fever and Rash in Mother (suspicious to Rubella)

5. Acquired Toxoplasmosis and CMV • 90% asymptomatic • Most common symptoms : LAP+ Fever + Fatigue • Occasionally: Inf. Mono. Like sx • Hepatitis , Encephalitis , Pneumonitis , Myocarditis Aseptic Meningitis and Mass lesion AcquiredCMV is very similar to EBV

6. 1 الف)چه موقعی می گوییم نوزادی مبتلا بهTORCHs dx است؟ و چه عواملی آن را ایجاد می کنند؟

7. Chronic Congenital Infection • Definition: More than one month of manifestations which present at birth • Active : ongoing inflammatory process • Inactive (burned out) :anomaly or damaged organ remaining as evidence of past infection

8. CHEAP-TORCHS • CHEAP: Chickenpox-Hep.B,C,E-Enteroviruses -AIDS- Parvovirus B19 • TORCHS: Toxoplasmosis – Others(GBS, Listeria, Candida, Tuberculosis, LCMV) –Rubella-Cytomegalovirus – Herpes simplex virus –STI : gonorrhea, chlamydia, ureaplasma , papillomavirus

9. Fever or Hypotonia ,Resp.D ,Cyanosis, Anorexia, Vomiting , HMG:SepsisHSV and Enteroviruses, ACUTE CONGENITAL INFECTION:

10. 1 1 ب)در چه مواردی نوزاد را برای سندم تورچ بررسی می کنید؟

11. Clinical Diagnosis • It should be considered with any of the following general findings: • IUGR • Congenital defects indicating teratogenesis or damaged organs: Heart ( PDA , PS,…) Eye :( glaucoma , chorioretinitis ,strabismus ,…) Ear : deafness CNS : (calcification , hydrocephaly,…)

12. 3- Chronic active infection: Jaundice –HSMG –Thrombocytopenic purpura – Rashes – CSF pleocytosis - Pneumonitis – Myocaditis – Rhinitis – Vomiting – Diarrhea-…

13. Clinical Features

15. 1 ج )با بررسی نوزاد برای سندرم تورچ چه اهدافی را دنبال می کنید؟

16. 1- Effectiveness of vaccination 2- Early detection and interaction 3- Prevention of sequels 4- Determining the cause of patient problems

17. 2 الف)در بررسی سندرم تورچ آزمایشات عمومی و اختصاصی (غیر از سرولوژی) کدامند؟

18. Nonspecific LAB W/U • U/S for IC abnormalities such as calcification • Long bone X-Ray , CXR • ECG • CSF analysis • CBC including platelet count • Total IgM , which is neither S o SP .

19. Patent ductus arteriosus (PDA) Tetralogy of Fallot

20. VENTRICULAR SEPTAL DEFECT (VSD)

21. Patent ductus arteriosus

22. X-ray of the lower limbs in a newborn with congenital rubella syndrome. The ends of the long bones are ragged and streaky in appearance (the so-called "celery stalk" metaphysical changes), due to active rubella infection in the bone. A 3-day-old girl of low birth weight had generalized purpura. Physical examination revealed a continuous murmur at the left upper sternal border and hepatosplenomegaly.

23. Ultrasonography revealed intracranial calcifications confirming to a periventriclur location Calcific. foci in both basal ganglia mild hydrocephalus cytomegalovirus is the most common followed by toxoplasmosis, rubella and herpes.

24. 2 ب)آیا آزمایشات نامبرده شده را برای تمام نوزادان مشکوک به تورچ درخواست میفرمائید یا معیارهایی را در نظر می گیرید؟( در صورتیکه راهنمای خاصی برای درخواست آزمایشات در نظر دارید ارائه فرمایید.)

25. 3 الف)تفاوت ها و شباهتهای CMV،Rubella و Toxopl.را از نظر بالینی وآزمایشگاهی بطور جداگانه در دو جدول منعکس فرمایید.

26. Cardiac abnormalities • Cardiomegaly, mostly in CMV • VSD, ASD, Pulmonic stenosis and coaractation of the aorta in Rubella

27. Microcephaly • Often associated with other CNS anomalies • Isolated microcephaly : documented in CMV, Rubella ,HSV , VZV, T-21 and PKU

28. hydranencephaly • Most severe manifestation of the destructive process • Cerebral hemispheres replaced by fluid, brain stem preserved, falx present, absent or deviated, posterior fossa structures can be identified • reported in Herpes simplex, Toxoplasmosis and CMV

29. Hepatosplenomegaly • Documented in all TORCH infection • Often a transient finding

30. Intra-abdominal Calcifications • Typical appearance: echogenic foci with acoustic shadowing • Peritoneum, intestinal lumen, organ parenchyma, biliary tree and vascular structures • Echogenic bowel in CMV and Toxoplasmosis

31. Hydrops, Placenta and Amniotic fluid • Hydrops reported in most TORCH but may be transient • Placentomegaly is usually associated with intrauterine infection, but small placentae have also been reported • Hydramnios and oligohydramnios have been reported with similar frequency

32. Fetal growth restriction • Estimated weight below the 10th percentile • common feature with CMV, Rubella, Herpes simplex and Varicella • Usually not seen with Toxoplasmosis and Syphylis

34. Congenital rubella syndrome (CRS) • Incidence less than 1:100,000 live birth • Infection of fetus during first trimester of pregnancy • CRS babies continue to shed Rubella virus from their throats for several months up to a year after birth and pose a serious risk to pregnant women • 10 -20% of babies with CRS die within 1 year

35. CRI Classification 1-Classical form Eye defect ) microphthalmia , cataract :20 -50%, Retinopathy: salt and pepper ) CHD :50% (PDA : 20-50% -Ps and As ) Microcephaly – Deafness (unilat. or bilat.) 2- Extended CRS Transient longitudinal bone radiolucencies Dental enamel defect – Blueberry muffin baby – Retinitis

36. CRI Classification 3- Late onset CRS : minimal S&S at birth , but sever multisystem dx develops after 3-6 months – panencephalitis – PCP – Interstitial pneumonia – convulsion – rashes 4- Isolated defects: language retardation strabismus – deafness – neo. Hepatitis REVISED CLASSIFICATION (confirmed – probable – possible – absent CRS )

37. CNS involvement in Rubella: Abnl Tone ,irritability ,Bulged fontanel , convulsion :25% , high protein in CSF without pleocytosis , NDD :25%

38. Infant with CRS

39. other causes:HSV, VZV, Galactosemia, Lowe sx Cataracts caused by CRS

40. Congenital Rubella: Retinopathy (Salt-and-pepper retinopathy)

42. Congenital Rubella Syndrome • severe bilateral deafness • severe bilateral visual defects • cataract • corneal opacity

43. Roger Mulholland: was born with rubella His mother Jane contracted the disease when she was pregnant • When Roger was born, he was a small baby, covered in blood blisters. • Within a day it was confirmed that he was blind and had severe brain damage. • He was later found to have four separate heart defects and to be completely deaf.

44. fetus with non-immune hydrops and anasarca

45. stillborn molar placenta

46. small, low set malformed ears, micro retrognathia syndactyly of third and fourth digits simian crease

47. Clinical manifestations of congenital rubella and time of maternal infection. - - - -, deafness; - - – - - –, central nervous system deficit; — — —., heart disease; – – – –., cataract/glaucoma; ——, neonatal purpura

48. Frequency of virus excretion with age of infants with CRS

49. Cytomegalovirus • DNA virus • The most common congenital infection affecting 1% of all live births • Prolonged virus shedding • 5-10%of infected neonates demonstrate clinical manifestations that potentially could be identified by prenatal sonography • Ventriculomegaly, Intracranial calcifications and oligohydramnios are the most frequently reported findings • Neonatal NDD : 20-30% • 90% of survivors get late complications • 5-15% with no demonstrable disease at birth get some abnormality (deafness)

50. CMV Congenital Infection (Late) • Ventriculomegaly • Cerebral atrophy and Mental retardation • Psychomotor delay and Seizures • Learning difficulties and language delay • Chorioretinitis / Optic atrophy • Intracranial calcifications • Long bone radiolucencies and dental abnormalities • Pneumonitis