Single-exon approach to non-invasive fetal RHD screening in early pregnancy: An update after 10 years' experience.
Vox Sang
; 117(11): 1296-1301, 2022 Nov.
Article
em En
| MEDLINE
| ID: mdl-36102142
ABSTRACT
BACKGROUND AND OBJECTIVES:
Anti-D prophylaxis, administered to RhD-negative women, has significantly reduced the incidence of RhD immunization. Non-invasive fetal RHD screening has been used in Stockholm for more than 10 years to identify women who will benefit from prophylaxis. The method is based on a single-exon approach and is used in early pregnancy. The aim of this study was to update the performance of the method. MATERIALS ANDMETHODS:
The single exon assay from Devyser AB is a multiplex kit detecting both exon 4 of the RHD gene and the housekeeping gene GAPDH. Cell-free DNA was extracted from 1 ml of plasma from EDTA blood taken during early pregnancy, weeks 10-12. The genetic RHD results were compared with serological typing of newborns for a determination of sensitivity and specificity.RESULTS:
In total, 4337 pregnancies were included in the study; 44 samples (1%) were inconclusive either due to maternal RHD gene variants (n = 34) or technical reasons (n = 10). Of the remaining 4293 pregnancies, a total number of nine discrepant results were found. False positive results (n = 7) were mainly (n = 4) due to RHD gene variants in the child. False-negative results were found in two cases, of which one was caused by a technical error. None of the false-negative cases was due to RHD gene variants. Overall, the sensitivity of the method was 99.93% and specificity 99.56%.CONCLUSION:
The single-exon assay used in this study is correlated with high sensitivity and specificity.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sistema do Grupo Sanguíneo Rh-Hr
/
Ácidos Nucleicos Livres
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Limite:
Child
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article