Recent advances in non-invasive fetal HPA-1a typing
| Autor: | Núria Nogués |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
endocrine system
Population Computational biology 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine Fetus Pregnancy Genotype SNP Medicine Humans Digital polymerase chain reaction Antigens Human Platelet Typing education education.field_of_study Massive parallel sequencing business.industry Integrin beta3 Hematology medicine.disease Thrombocytopenia Neonatal Alloimmune Cell-free fetal DNA Neonatal alloimmune thrombocytopenia Female business 030215 immunology |
| Zdroj: | Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis. 59(1) |
| ISSN: | 1473-0502 |
| Popis: | Non-invasive fetal HPA-1a typing is a valuable tool to identify the pregnancies at risk of fetal and neonatal alloimmune thrombocytopenia (FNAIT). At present, prenatal determination of the fetus HPA-1a type is performed for diagnostic purposes in pregnancies of HPA-1 alloimmunized women with history of a previous fetus or child with FNAIT. Different approaches have been used to determine the fetal HPA-1a genotype from cell-free fetal DNA (cffDNA) in the mother's plasma, mainly based on real-time PCR. Due to the single nucleotide polymorphism (SNP) between the HPA-1a and HPA-1b allelic sequences, a robust and accurate detection of the fetal genotype is challenging, and the sensitivity of most assays is still limited early in pregnancy. Nowadays, the availability of technologies such as next generation sequencing (NGS) or digital PCR offers unprecedented possibilities of analyzing cell-free DNA (cfDNA)-amplified sequences with very high coverage and high sensitivity. In addition, other interesting approaches using variant sequence enrichment strategies have been recently described. In particular, coamplification at lower denaturation temperature PCR (COLD-PCR) offers a simple and sensitive strategy for noninvasive fetal HPA-1 typing. These novel approaches are explained in more detail in this review. Despite no population-based FNAIT screening programs have so far been implemented, the perspectives in terms of treatment and prevention are changing and less costly high-throughput maternal HPA-1a typing methods have been developed. Altogether, this may lead to the implementation of fetal HPA-1a typing with a broader scope in the future, playing a critical role within FNAIT screening programs. |
| Databáze: | OpenAIRE |
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