Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
Journal of Genetic Medicine
;
: 100-108, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-195763
ABSTRACT
PURPOSE:
Conventional methods for the prenatal detection of fetal RhD status involve invasive procedures such as fetal blood sampling and amniocentesis. The identification of cell-free fetal DNA (cffDNA) in maternal plasma creates the possibility of determining fetal RhD status by analyzing maternal plasma DNA. However, some technical problems still exist, especially the lack of a positive control marker for the presence of fetal DNA. Therefore, we assessed the feasibility and accuracy of fetal RHD genotyping incorporating the RASSF1A epigenetic fetal DNA marker from cffDNA in the maternal plasma of RhD-negative pregnant women in Korea. MATERIALS ANDMETHODS:
We analyzed maternal plasma from 41 pregnant women identified as RhD-negative by serological testing. Multiplex real-time PCR was performed by amplifying RHD exons 5 and 7 and the SRY gene, with RASSF1A being used as a gender-independent fetal epigenetic marker. The results were compared with those obtained by postnatal serological analysis of cord blood and gender identification.RESULTS:
Among the 41 fetuses, 37 were RhD-positive and 4 were RhD-negative according to the serological analysis of cord blood. There was 100% concordance between fetal RHD genotyping and serological cord blood results. Detection of the RASSF1A gene verified the presence of cffDNA, and the fetal SRY status was correctly detected in all 41 cases.CONCLUSION:
Noninvasive fetal RHD genotyping with cffDNA incorporating RASSF1A is a feasible, reliable, and accurate method of determining fetal RhD status. It is an alternative to amniocentesis for the management of RhD-negative women and reduces the need for unnecessary RhIG prophylaxis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Plasma
/
Diagnóstico Pré-Natal
/
DNA
/
Testes Sorológicos
/
Marcadores Genéticos
/
Éxons
/
Genes sry
/
Gestantes
/
Sangue Fetal
/
Epigenômica
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS