A new efficient tool for non-invasive diagnosis of fetomaternal platelet antigen incompatibility
- 1 September 2020
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 190 (5), 787-798
- https://doi.org/10.1111/bjh.16593
Abstract
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is the consequence of platelet destruction by maternal alloantibodies against fetal human platelet antigens (HPA). This may result in intracranial haemorrhages (ICH) or even fetal death. Currently, fetal HPA genotyping is performed using invasive procedures. Here, we carried out a proof-of-concept study for non-invasive prenatal diagnosis of fetal platelet genotyping in four HPA systems (HPA-1, -3, -5 and-15) by droplet digital polymerase chain reaction (ddPCR) using cell-free DNA extracts from the plasma of 47 pregnant women with suspected, or history of, FNAIT. Results showed that 74% (35/47) of pregnant women presented incompatibility in at least one HPA system, and 38% (18/47) of cases presented HPA-1 incompatibility, including nine women with multiple incompatibilities. ICH occurred in one case of profound fetal thrombocytopenia with HPA-15 incompatibility, confirming the need for non-invasive prenatal genotyping in systems other than HPA-1. Fetal HPA genotypes predicted by ddPCR were confirmed in all FNAIT cases after amniocentesis or delivery. Fetal HPA genotyping on maternal plasma based on ddPCR is a fast, safe and reliable non-invasive method. This technique will be useful for the early identification of pregnancies at high risk of FNAIT requiring antenatal management to minimize the risk of fetal/neonatal haemorrhage.Funding Information
- Association Recherche et Transfusion
This publication has 44 references indexed in Scilit:
- Screening in pregnancy for fetal or neonatal alloimmune thrombocytopenia: systematic reviewBJOG: An International Journal of Obstetrics and Gynaecology, 2010
- Update on Procedure-Related Risks for Prenatal Diagnosis TechniquesFetal Diagnosis and Therapy, 2009
- Fetal/Neonatal Allo-Immune Thrombocytopenia (FNAIT): Past, Present, and FutureObstetrical & Gynecological Survey, 2008
- A screening and intervention program aimed to reduce mortality and serious morbidity associated with severe neonatal alloimmune thrombocytopeniaBlood, 2007
- Cost‐effectiveness of antenatal screening for neonatal alloimmune thrombocytopeniaBJOG: An International Journal of Obstetrics and Gynaecology, 2007
- Hypermethylation of RASSF1A in Human and Rhesus PlacentasThe American Journal of Pathology, 2007
- Relevance of the HPA‐15 (Gov) polymorphism on CD109 in alloimmune thrombocytopenic syndromesTransfusion, 2005
- A new platelet polymorphism Duva+, localized within the RGD binding domain of glycoprotein IIIa, is associated with neonatal thrombocytopeniaBlood, 2002
- HPA‐5b (Bra) neonatal alloimmune thrombocytopenia: clinical and immunological analysis of 39 casesBritish Journal of Haematology, 1991
- 348 CASES OF SUSPECTED NEONATAL ALLOIMMUNE THROMBOCYTOPENIAThe Lancet, 1989