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- Title
Noninvasive prenatal HPA-1 typing in HPA-1a negative pregnancies selected in the Polish PREVFNAIT screening program.
- Authors
Orzińska, Agnieszka; Guz, Katarzyna; Uhrynowska, Małgorzata; Dębska, Marzena; Mikula, Michal; Ostrowski, Jerzy; Ahlen, Maria Therese; Husebekk, Anne; Brojer, Ewa
- Abstract
<bold>Background: </bold>Anti-HPA-1a alloantibodies in HPA-1a negative mothers can lead to fetal/neonatal alloimmune thrombocytopenia (FNAIT). Noninvasive prenatal testing (NIPT) of HPA-1a determines fetuses at risk and the course of maternal antenatal treatment.<bold>Study Design and Methods: </bold>The aim was to develop and validate HPA-1a NIPT by real-time polymerase chain reaction (PCR) or next-generation sequencing (NGS) for a high-throughput screening setting. DNA from 328 plasma samples of 299 HPA-1a negative pregnant women was examined for HPA-1a by real-time PCR and in two cases also by NGS (Ion Torrent). The results were compared with neonatal HPA-1a genotyping in 281 cases.<bold>Results: </bold>HPA-1a NIPT was negative in 44 of 51 HPA-1a negative fetuses, inconclusive in five, and false positive in two. In 228 of 229 HPA-1a positive fetuses, the NIPT results were positive (mean threshold cycle 36.0 ± 1.7) and inconclusive in one. In 22 cases with HPA-1a positive fetuses analyzed twice, the sensitivity of HPA-1a detection was significantly higher at 28 weeks compared with 16 to 20 weeks. NGS efficiently detected the ITGB3 coding HPA-1a/b (1% and 5% fetal HPA-1a reads).<bold>Conclusion: </bold>Real-time PCR is reliable to predict the fetal HPA-1a positive genotype in a screening study, but false-positive results are reported in 4%, with unnecessary prenatal treatment if anti-HPA-1a is detected.
- Subjects
THROMBOCYTOPENIA; PRENATAL diagnosis; POLYMERASE chain reaction; PREGNANT women; HIGH throughput screening (Drug development); COMPARATIVE studies; IMMUNOGLOBULINS; ISOANTIGENS; RESEARCH methodology; MEDICAL cooperation; QUESTIONNAIRES; RESEARCH; RESEARCH funding; EVALUATION research; GENOTYPES
- Publication
Transfusion, 2018, Vol 58, Issue 11, p2705
- ISSN
0041-1132
- Publication type
journal article
- DOI
10.1111/trf.14963