Hemolytic disease of the fetus and newborn in the molecular era

Semin Fetal Neonatal Med. 2016 Feb;21(1):28-34. doi: 10.1016/j.siny.2015.10.006. Epub 2015 Nov 14.

Abstract

Maternal-fetal red cell antigen incompatibility can lead to alloimmunization, maternal immunoglobulin transplacental transfer, and hemolytic disease of the fetus and newborn (HDFN). The use of routine antenatal anti-D prophylaxis (RAADP) has sharply decreased the incidence of and mortality from HDFN due to RhD allosensitization. The ability to identify pregnancies/fetuses at risk of HDFN has significantly improved due to paternal molecular RHD zygosity testing, and non-invasive fetal molecular diagnostics for detecting putative antigen(s) (notably RhD) in fetuses utilizing cff-DNA in maternal plasma. Fetal RHD genotyping using cff-DNA has become increasingly accurate for fetal RHD detection, prompting some countries to implement targeted RAADP through mass screening programs of RhD-negative pregnant women. Along with middle cerebral artery Doppler ultrasonography for predicting fetal anemia, non-invasive fetal molecular diagnostics have greatly decreased the need for invasive diagnostic procedures in pregnancies at risk for severe HDFN. This review highlights these molecular advancements in HDFN-related prenatal diagnostics.

Keywords: Hemolytic disease of newborn; Molecular diagnostic testing; Rhesus blood group.

Publication types

  • Review

MeSH terms

  • Erythroblastosis, Fetal / diagnosis*
  • Erythroblastosis, Fetal / genetics*
  • Erythroblastosis, Fetal / prevention & control
  • Female
  • Genetic Markers
  • Genetic Testing / methods*
  • Genotyping Techniques
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Rh-Hr Blood-Group System / genetics*

Substances

  • Genetic Markers
  • Rh-Hr Blood-Group System
  • Rho(D) antigen