Noninvasive fetal genotyping of human platelet antigen-1a

作者：Scheffer P G; Soussan A Ait; Verhagen O J H M; Page Christiaens G C M L; Oepkes D; de Haas M; van der Schoot C E^*

来源：BJOG: An International Journal of Obstetrics and Gynaecology , 2011, 118(11): 1392-1395.

DOI：10.1111/j.1471-0528.2011.03039.x

• Alloimmune thrombocytopenia
• cell-free DNA
• fetal or neonatal alloimmune thrombocytopenia
• human platelet antigen-1a
• maternal plasma
• noninvasive prenatal diagnosis

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.

• 出版日期2011-10