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Transfusion. 2018 Oct;58(10):2272-2279. doi: 10.1111/trf.14837. Epub 2018 Sep 17.

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

Author information

1
Instituto de Investigaciones Biomédicas de Sevilla, IBIS (Universidad de Sevilla, HUVR, Junta de Andalucía, CSIC), Hospital Universitario Virgen del Rocío-Universidad de Sevilla, Seville, Andalucía, Spain.
2
the Blood Transfusion Center and Tissue and Cells Establishment Córdoba, Cordoba, Andalucía, Spain.
3
the Departmento de Hematología, Hospital Universitario Virgen del Rocío, Seville, Andalucía, Spain.

Abstract

BACKGROUND:

The development of new noninvasive approaches for the diagnosis of human platelet antigen (HPA)-1 fetomaternal incompatibility has become of great interest. These approaches allow determination of whether the fetus is incompatible or not with the mother and a decision on antenatal therapy to avoid fetal or neonatal alloimmune thrombocytopenia (FNAIT). The objective of this work was to perform rapid, noninvasive prenatal test for HPA-1ab fetal antigen detection after the detection of an HPA-1-homozygous mother by using plasma cell-free DNA (cfDNA).

STUDY DESIGN AND METHODS:

The HPA-1 genotypes of 142 pregnant women and 17 nonpregnant controls were retrospectively determined by high-resolution melting (HRM) polymerase chain reaction (PCR). Coamplification at lower denaturation temperature (COLD) HRM PCR was performed to determine the fetal genotype analyzing cfDNA from all HPA-1bb pregnant women.

RESULTS:

After the HRM analysis, the following genotypes were identified: HPA-1aa (71.13%), HPA-1bb (2.8%), and HPA-1ab (26.06%). Four HPA-1bb-homozygous pregnant women were carrying an incompatible fetus. Plasma samples from these mothers were analyzed by HRM COLD-PCR. Homozygous HPA-1bb pregnant women carrying an HPA-1ab-heterozygous fetus did not group with either the HPA-1ab or the HPA-1bb controls. Thus, COLD-PCR analysis allows the detection of HPA-1ab-heterozygous fetuses carried by homozygous mothers during first weeks of pregnancy.

CONCLUSION:

The fetal genotype from HPA-1bb-homozygous women was detected by a noninvasive prenatal test as soon as 12 weeks of gestation.

PMID:
30222855
DOI:
10.1111/trf.14837

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