Noninvasive prenatal diagnosis by cell‐free DNA screening for fetomaternal HPA‐1a platelet incompatibility

Ferro, Marta; Macher, Hada C.; Fornés, Gema; Martín-Sánchez, Jesús; Jiménez-Arriscado, Pilar; Molinero, Patrocinio; Pérez-Simón, Josè Antonio; Guerrero, Juan M.; Rubio, Amalia

doi:10.1111/trf.14837

Cited by 15 publications

(9 citation statements)

References 26 publications

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“…In pregnancies where the father is heterozygous (HPA-1ab) or not typed, determination of fetal HPA-1 type can preclude unnecessary follow-ups and interventions. Non-Invasive Prenatal Testing (NIPT) for HPA-1 can be performed using cell-free fetal DNA in maternal circulation [11][12][13]. A NIPT test for fetal HPA-1 typing is currently under validation at the Norwegian National Unit for Platelet Immunology (NNUPI) but will require approval from the Norwegian Health Authorities prior to clinical use.…”

Section: Clinical Follow-upmentioning

confidence: 99%

Fetal and neonatal alloimmune thrombocytopenia – The Norwegian management model

Tiller

Ahlén

Akkök

et al. 2020

Transfusion and Apheresis Science

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In Norway, the management strategy for fetal and neonatal alloimmune thrombocytopenia (FNAIT) has for more than two decades differed from most other countries. The focus of this paper is to describe and discuss the Norwegian FNAIT management program. We recommend antenatal IVIg to women who previously have had a child with FNAIT-induced ICH, and usually not to HPA-1a alloimmunized pregnant women where a previous child had FNAIT, but not ICH. When deciding management strategy, we use not only the obstetric history but also the antenatal anti-HPA-1a antibody level as a tool for risk stratification. The Norwegian National Unit for Platelet Immunology (NNUPI) at the University Hospital of North Norway in Tromsø provides diagnostic and consulting service for the clinicians and the blood banks all over the country, and serves as a national reference laboratory for FNAIT investigations.

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Section: Clinical Follow-upmentioning

confidence: 99%

Fetal and neonatal alloimmune thrombocytopenia – The Norwegian management model

Tiller

Ahlén

Akkök

et al. 2020

Transfusion and Apheresis Science

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“…The techniques are based essentially on classic polymerase chain reaction (PCR) without considering the possibility that low levels of cffDNA may constitute a potential risk of false-negative results, especially in the first weeks of gestation. [24][25][26][27][28] In addition, there is a risk of false-positive results as the accuracy of the technique is difficult to estimate. Targeted next generation sequencing (NGS) allows the early detection of several HPA systems and reliably prevents false-negative results.…”

Section: Introductionmentioning

confidence: 99%

“…Non‐invasive fetal HPA genotyping techniques have focused on HPA‐1 because of its involvement in the most severe cases FNAIT in Caucasians. The techniques are based essentially on classic polymerase chain reaction (PCR) without considering the possibility that low levels of cffDNA may constitute a potential risk of false‐negative results, especially in the first weeks of gestation 24‐28 . In addition, there is a risk of false‐positive results as the accuracy of the technique is difficult to estimate.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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Summary 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.

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“…In this issue of TRANSFUSION , Ferro et al present a new PCR‐based method for noninvasive fetal HPA‐1a typing . Compared with previously described methods for noninvasive fetal HPA‐1a typing, the authors describe an assay that is particularly elegant because HPA‐1a typing of the pregnant woman, as well as HPA‐1a typing of the fetus, can be performed on DNA isolated from plasma obtained from one sample collected from the mother as early as Week 12 of gestation.…”

mentioning

confidence: 99%

“…It is important to know the HPA‐1a type of the fetus because the women carrying an HPA‐1a negative fetus are not at risk of having their pregnancy complicated by FNAIT. The assay described by Ferro et al would be very well suited to an FNAIT screening program: After isolation of DNA from plasma obtained from a blood sample collected early in pregnancy, maternal HPA‐1a typing is performed by HRM PCR. No further analyses will be performed for those women who are HPA‐1a positive.…”

mentioning

confidence: 99%