Abstract

QUINTANA, Silvina et al. Early fetal sex determination in maternal plasma by real-time PCR. Acta bioquím. clín. latinoam. [online]. 2015, vol.49, n.2, pp.229-234. ISSN 0325-2957.

Free fetal DNA analysis in maternal plasma permits the study of fetal genetic material without performing invasive procedures at pregnancy. The identification of fetal sex by detecting the male Y chromosome DNA in the plasma of pregnant women is very useful in pregnancies at risk for congenital adrenal hyperplasia or X-linked diseases. The present study aimed at evaluating the feasibility and the diagnostic performance of the determination of fetal sex analyzing free fetal DNA by real-time PCR in maternal plasma. A total of 10 mL of peripheral blood was taken from 134 pregnant patients undergoing between 5 and 32 weeks of gestation; the plasma was separated and DNA extraction was performed. Samples were analyzed by real-time PCR amplifying the marker DYS14 present in the Y chromosome. Fetal sex was confirmed by ultrasound performed between weeks 20 and 32. Sensitivity and specificity of the technique to detect the fetal sex were 98.5% and 80.7% respectively. The earliest gestational age at diagnosis was 5 weeks. The implemented technique has shown similar diagnostic performance to that described in the literature.

Keywords : Early fetal sex determination; Real-time PCR; Maternal plasma.

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