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Prenat Diagn ; 33(1): 95-101, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23225162

RESUMO

OBJECTIVE: To determine the sensitivity and specificity of circulating cell-free fetal DNA in determining the fetal RHD status and fetal sex. METHODS: Maternal blood was collected in each trimester of pregnancy from RhD negative nonalloimmunized women. Whole blood was centrifuged, separated into plasma and buffy coat, and frozen at -80°C. DNA analysis was conducted via allele-specific primer extensions for exons 4, 5, and 7 of the RHD gene and for a 37-base pair insertion in exon 4 (RHD pseudogene; psi) three Y-chromosome sequences (SRY, DBY, and TTY2), and an extraction control (TGIFL-like X/Y). RhD serotyping on cord blood and gender assessment of the newborns were entered into a Web-based database. RESULTS: One hundred twenty women were enrolled. The median gestational age at the first venipuncture was 12.4 (range: 10.6-13.9) weeks with 120 samples drawn; 118 samples were drawn at 17.6 (16-20.9) weeks; and 113 samples at 28.7 (27.9-33.9) weeks. Overall accuracy for RHD was 99.1%, 99.1%, and 98.1% for each trimester and was 99.1%, 99.1%, and 100% for fetal sex determination. CONCLUSIONS: Fetal RHD genotyping and sex can be very accurately determined in all three trimesters using circulating cell-free fetal DNA in the maternal circulation.


Assuntos
Tipagem e Reações Cruzadas Sanguíneas/métodos , DNA/sangue , Sangue Fetal , Sistema do Grupo Sanguíneo Rh-Hr/sangue , Análise para Determinação do Sexo/métodos , Feminino , Genes sry/genética , Genótipo , Idade Gestacional , Humanos , Masculino , Gravidez , Sistema do Grupo Sanguíneo Rh-Hr/genética , Sensibilidade e Especificidade
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