• Non Invasive diagnosis of Hemolytic disease of fetus and newborn by cffDNA
  • hussain habibi,1,* hurie tajik,2
    1. Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran
    2. Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran


  • Introduction: The most common cause of HDFN (Hemolytic Disease of the Fetus and Newborn) is Rh incompatibility between mother and fetus. The result of the incompatibility in the mother's body is the creation of allo-antibodies which can pass through the placenta and lead to lysis of embryo's red blood cells. HDFN may cause anemia, jaundice, hepatosplenomegaly, Kernicterus, encephalopathy and also abortion. Conventional methods including cordocentesis and amniocentesis, which are used to detect HDFN, are invasive and may lead to abortion, so the importance of NIPT (Non-Invasive Prenatal Testing) is revealed as this methodology does not have the risks of earlier methods and has high accuracy and sensitivity.
  • Methods: : Data collections have been done using databases: PubMed, Nature and Science Direct. To compare and summarize the different diagnostic methods of HDFN, books and articles that have been published by 2018 are studied.
  • Results: The methods used to diagnose HDFN are often invasive, non-specific, or can exacerbate the disease. Also, the treatments performed for the fetus are not completely effective or free of complications. Therefore, the use of NIPD test is important because the required sample is taken non-invasively from the mother in the first trimester of pregnancy and does not cause complications of other diagnostic methods. Also, the specificity and sensitivity of the procedure in the diagnosis of trisomy, preeclampsia and HDFN is close to 100%.
  • Conclusion: In forecasting HDFN using the NIPD test, a specific biomarker of cff DNA is investigated. Cff DNA is pieces of fetal DNA that are the result of cell denaturation and are passed through the placenta into the mother's bloodstream. This marker reaches its peak in 11 to 13 weeks of pregnancy and minimizes the time of disease prediction compared to other methods. Another benefit of this method is the reduction of errors in the prevention of mothers with Rh- because for all these people without an accurate diagnosis of fetal Rh, prophylaxis with RHIg is prescribed, which has its effects on the mother. In some cases, it leads to exacerbation of allergies or disease transmission. Some theories suggest that RHIg may lead to lysis of embryonic RBCs due to its ability to cross the placenta.
  • Keywords: HDFN, hemolytic disease diagnosis, cff DNA, NIPT