A new efficient tool for non-invasive diagnosis of fetomaternal platelet antigen incompatibility.

Autor: Ouzegdouh Mammasse Y; Institut National de la Transfusion Sanguine (INTS), Département d'Immunologie Plaquettaire, Paris, France., Chenet C; Institut National de la Transfusion Sanguine (INTS), Département d'Immunologie Plaquettaire, Paris, France., Drubay D; INSERM, U1018, CESP, Faculté de Médecine - Université Paris-Sud - UVSQ, INSERM, Université Paris-Saclay, Villejuif, France.; Service de Biostatistique et d'Epidémiologie, Gustave Roussy, Villejuif, France., Martageix C; Institut National de la Transfusion Sanguine (INTS), Département d'Immunologie Plaquettaire, Paris, France., Cartron JP; Institut National de la Transfusion Sanguine (INTS), Paris, France., Vainchenker W; Institut National de la Transfusion Sanguine (INTS), Département d'Immunologie Plaquettaire, Paris, France.; INSERM, UMR 1287, Gustave Roussy, Villejuif, France.; Université Paris-Saclay, UMR1287, Gustave Roussy, Villejuif, France., Petermann R; Institut National de la Transfusion Sanguine (INTS), Département d'Immunologie Plaquettaire, Paris, France.; Centre de Recherche des Cordeliers, UMRS 1138, INSERM, Sorbonne Université, Université de Paris, Equipe ETRES (Ethics, Research, Translations), Paris, France.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2020 Sep; Vol. 190 (5), pp. 787-798. Date of Electronic Publication: 2020 Apr 07.
DOI: 10.1111/bjh.16593
Abstrakt: 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.
(© 2020 British Society for Haematology and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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