Dr Ira Shah
MD, DCH (Gold Medalist), FCPS, DNB

A 37 days old male child born of third degree consanguineous marriage presented with jaundice and high colored urine since 15 days of life. There was no history of clay colored stools or bleeding from any site. There was no maternal history of fever during pregnancy or drug ingestion. He was a full term normal vaginal delivery with birth weight of 3 kg and youngest of 5 siblings. The maternal age at delivery was 40 years.

On examination, he had features of Down’s syndrome with Mongoloid slant of eyes, depressed nasal bridge and presence of simian crease with icterus. On abdominal system examination, he had firm hepatomegaly with sharp borders. There was no splenomegaly or ascitis. Cardiovascular system revealed a continuous murmur in the 2nd left intercostal space with cardiomegaly and heart sounds were normal. CNS system examination revealed hypotonia. Other systemic examination was normal. Thus he was diagnosed as a case of Down’s syndrome with neonatal jaundice with congenital acyanotic heart disease with a left to right shunt most likely a Patent Ductus Arteriosus.

His 2 D Echo confirmed a moderate size Patent Ductus. Arteriosus with left to right shunt and karyotype was 47 XY with Trisomy 21 confirming the Down’s syndrome. His liver function tests revealed hyperbilirubinemia with direct jaundice [Total bilirubin = 19.1 mg/dl, Direct bilirubin = 17.1 mg/dl]. His liver transaminases were elevated (SGOT = 314 IU/L, SGPT = 187 IU/L] and serum total proteins, alkaline phosphatase, serum albumin, prothrombin time and partial thromboplastin time were normal. In view of neonatal hepatitis, he was screened for it. His TORCH times revealed positive CMV IgG [19 IU/ml (Normal = <10 IU/ml)], positive HSV 1 IgG [150 IU/ml, (Normal = <10 IU/ml)] and positive Rubella IgG [32 IU/ml (Normal = <10 IU/ml)]. His urine for CMV was negative and HSV PCR was negative. His urine for Rubella was positive. In view of the positive urine rubella, he was screened for other rubella stigmata. His ophthalmology examination revealed no chorioretinitis or cataracts. His USG skull was normal. His BERA was normal. A liver biopsy showed vacuolar change, cholestasis, necrosis and multinuclear giant cells with rare portal fibrosis and moderate infiltration with no evidence of cirrhosis or biliary atresia suggestive of neonatal hepatitis. Thus he was diagnosed as a case of congenital Rubella with patent ductus arteriosus and Down’s syndrome. Thyroid profile was normal. He was treated with Digoxin, Furosemide, Vitamin A, D, E & K in cholestatic doses and Ureodeoxycholic acid. A month later, his hyperbilirubinemia had regressed (Total bilirubin = 6 mg/dl, Direct = 3 mg/dl) and his transaminases had also reduced (SGOT = 80 IU/L, SGPT = 62 IU/L), suggestive of regression of the hepatitis.

With widespread immunization against rubella, the incidence of fetal exposure to rubella has drastically decreased. Rubella causes a self-limiting infection in susceptible children and adults, but its effects on the fetus can be devastating. Risk of fetal transmission of rubella is highest if the mother develops infection within first 12 weeks of gestation and decreases in the second trimester and rate increases again in the last 10 weeks of gestation with 100% transmission 36 weeks and beyond. Early gestation infection results in multiple organ anomalies. Abnormalities are negligible when fetal infection occurs beyond 20th week of gestation.

Clinically, congenital rubella is classically characterized by cataracts, sensorineural hearing loss and congenital heart disease- predominantly a patent ductus arteriosus (PDA) or pulmonary stenosis. Our patient predominantly presented with a PDA. Other features include intrauterine growth retardation, microphthalmia, hepatosplenomegaly, retinopathy, meningo-encephalitis, thrombocytopenia, bone lucencies and diabetes mellitus. Rare manifestations include glaucoma, microcephaly, hepatitis, anemia, hypogammaglobulinemia, thymic hypoplasia, thyroid abnormalities, polycystic kidney disease and mental retardation. Onset of some of the abnormalities of congenital rubella may be delayed by months to years.

When to suspect maternal rubella infection ?
If the pregnant woman has classical rubella rash with or without arthralgia, one needs to do serum Rubella IgG titers. If positive within 7 days of exposure it suggests that the mother is immune and fetus is not considered at risk of infection. If maternal serum IgG is negative, serum IgM for rubella and repeat serum IgG after 3 to 4 weeks to look for fourfold rise in IgG levels is advised. To determine if fetal infection has occurred in such a situation, one may determine specific Rubella IgM in fetal blood obtained by percutaneous umbilical blood sampling. Direct detection of rubella antigen and Rubella RNA PCR by chorionic villus biopsy can be tried.

Postnatal diagnosis of congenital rubella: As per CDC guidelines the diagnosis of congenital rubella is made by one of the following: -

Isolation of rubella virus from oropharynx or urine.


Detection of rubella specific IgM in cord or neonatal blood.


Persistent rubella IgG titers over time i.e., there is no decline in titer as expected for transplacentally derived maternal IgG. In addition, if there are congenital defects, the diagnosis of congenital rubella is made.

There is no specific treatment for congenital rubella. Primary immunization of all susceptible persons is the best mode of prevention of congenital rubella. Conception should be avoided for 3 months following immunization, as there is a theoretical risk of fetal infection.