Earliest gestational age for fetal sexing in cell-free maternal plasma

Objectives To evaluate at what gestational age fetal DNA can reliably be detected at the earliest in maternal plasma. Methods We performed consecutive blood sampling in the first trimester of pregnancy in 17 women who were pregnant after in vitro fertilization (IVF) or intrauterine insemination (IUI...

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Bibliographic Details
Published in:Prenatal diagnosis 2003-12, Vol.23 (13), p.1042-1044
Main Authors: Rijnders, R. J. P., Van Der Luijt, R. B., Peters, E. D. J., Goeree, J. K., Van Der Schoot, C. E., Ploos Van Amstel, J. K., Christiaens, G. C. M. L.
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA - analysis
DNA - blood
earliest gestational age
Female
fetal DNA
Genes, sry - genetics
Gestational Age
Gynecology. Andrology. Obstetrics
Humans
Male
Management. Prenatal diagnosis
maternal plasma
Medical sciences
Polymerase Chain Reaction - methods
Pregnancy
Pregnancy Trimester, First - blood
Pregnancy. Fetus. Placenta
Reproducibility of Results
Sex Determination Analysis - methods
SRY gene
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Summary:Objectives To evaluate at what gestational age fetal DNA can reliably be detected at the earliest in maternal plasma. Methods We performed consecutive blood sampling in the first trimester of pregnancy in 17 women who were pregnant after in vitro fertilization (IVF) or intrauterine insemination (IUI). DNA was isolated and the Y‐chromosome specific SRY was amplified by real‐time polymerase chain reaction (PCR). We likewise studied 31 women prior to invasive prenatal diagnosis procedures for test validation purposes. All test results were compared to cytogenetic sex or sex at birth. Results The earliest SRY detection was at a gestational age of 5 weeks and 2 days. In none of 4 pregnancies ending in a miscarriage was SRY detected. We detected SRY in maternal plasma in 1 of 2 patients (50%) carrying a male fetus at a gestational age of 5 weeks, in 4 of 5 (80%) at a gestational age of 7 weeks, in 4 of 4 (100%) at a gestational age of 9 weeks. In all 7 women pregnant with a male fetus, the correct fetal sex was detected by 10 weeks. In none of the 6 patients who delivered a girl was SRY detected. In the validation group, SRY was detected in 13 of the 13 male, and none of the 18 female fetuses. Conclusions We conclude that real‐time PCR of the SRY gene promises to be a reliable technique for early fetal sexing in maternal plasma. Copyright © 2003 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.750