Noninvasive fetal genotyping of human platelet antigen-1a

BJOG. 2011 Oct;118(11):1392-5. doi: 10.1111/j.1471-0528.2011.03039.x. Epub 2011 Jul 12.

Abstract

We describe a reliable noninvasive fetal human platelet antigen (HPA)-1a genotyping assay on a real-time polymerase chain reaction (PCR) platform using cell-free fetal DNA isolated from maternal blood. Nonspecific amplification of maternal cell-free DNA is overcome by pre-PCR digestion of the cell-free DNA with the Msp1 restriction enzyme. Noninvasive fetal HPA-1a genotyping offers a safe method for alloimmunised pregnant women to determine whether their fetus is at risk of fetal or neonatal alloimmune thrombocytopenia (FNAIT) and whether interventions to prevent intracranial haemorrhage are required. The availability of this test is relevant to the ongoing debate on screening pregnancies for HPA-1a-mediated FNAIT.

MeSH terms

  • Antigens, Human Platelet / genetics*
  • Antigens, Human Platelet / immunology
  • DNA / blood*
  • Female
  • Fetal Blood / immunology*
  • Genotype
  • Humans
  • Integrin beta3
  • Pregnancy / blood
  • Prenatal Diagnosis / methods*
  • Thrombocytopenia, Neonatal Alloimmune / blood
  • Thrombocytopenia, Neonatal Alloimmune / diagnosis*

Substances

  • Antigens, Human Platelet
  • ITGB3 protein, human
  • Integrin beta3
  • DNA