No abstract

Edwards’ syndrome (trisomy 18) is a rare autosomal inherited disorder arising from the presence of an extra copy on chromosome 18. It is the second most common polymalformative genetic syndrome following Down syndrome. The most common characteristic features include dysmorphic gestalt, microcephaly, fixed flexion deformity of limbs with overlapping digits, rockerbottom feet, genitourinary and gastrointestinal abnomalities. About 90% of these children have underlying cardiac defects. Intellectual disability is almost always an accompanying feature. The presence and extent of associated anomalies govern the subsequent survival and quality of life. Only 5% of such cases survive beyond childhood.

Background: Non-Rhesus D antigen non-ABO, minor blood group alloimmunization in pregnant women is being increasingly recognized as a significant contributor to the development of the hemolytic disease of the fetus and newborn (HDFN). We report severe HDFN in a neonate born to an Rh-positive mother with sickle cell disease, following anti-C and anti-S alloimmunization. Clinical Description: A male baby born to a repeatedly transfused mother with sickle cell disease developed severe jaundice at 22 h of life. The baby was found to have severe anemia and indirect hyperbilirubinemia, but no encephalopathy, hepatosplenomegaly, or features of sepsis. Management and Outcome: His blood group was O positive and the direct Coombs test was 4+. Minor blood group typing showed the presence of anti-C and anti-S antibodies. The baby improved after receiving a double-volume exchange transfusion with matched blood and phototherapy. Conclusion: Severe hemolytic disease of the newborn (HDN) may be caused by minor blood group alloimmunization, especially seen in mothers with a history of multiple transfusions. Antenatal screening for alloimmunization in high-risk mothers can ensure timely diagnosis and treatment of HDN and prevent the harmful effects of neonatal hyperbilirubinemia.