Premium
Maternal urine for prenatal diagnosis—an analysis of cell‐free fetal DNA in maternal urine and plasma in the third trimester
Author(s) -
Majer Sandra,
Bauer Margit,
Magnet Eva,
Strele Andrea,
Giegerl Elisabeth,
Eder Martina,
Lang Uwe,
Pertl Barbara
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1875
Subject(s) - cell free fetal dna , urine , testis determining factor , fetus , prenatal diagnosis , andrology , medicine , real time polymerase chain reaction , pregnancy , gestational age , biology , y chromosome , genetics , gene
Objectives The aim of the study was the detection, quantification and correlation of cell‐free fetal (cff) DNA in maternal urine and plasma in normal and complicated pregnancies during the third trimester. Methods One hundred and fifty‐one urine and plasma samples obtained from 96 women carrying male fetuses, and 55 carrying female fetuses were collected and analyzed for cff‐DNA using fluorescent PCR and quantitative real‐time PCR. DNA was extracted from 1 mL maternal urine and analyzed with two different primer sets (SRY and DYS‐14). The concentrations of cff and total DNA in maternal plasma were correlated with maternal and obstetric parameters using appropriate correlation analyses. Results Y‐chromosome‐specific sequences were detected in 31 of 96 (32.3%) urine samples collected from women pregnant with male fetuses using DYS‐14 and in 6 of 96 (6.3%) urine samples using SRY as primers using real‐time PCR. All 96 plasma samples obtained from women carrying male fetuses were positive for cff‐DNA using real‐time PCR. Cff‐DNA exhibited a correlation with gestational age ( R = 0.244; P = 0.018) and an inverse correlation with the latency between blood collection and birth ( R = − 0.218; P = 0.036). Total DNA showed a correlation with placental weight ( R = 0.182; P = 0.034) and pregnancy‐associated complications ( R = 0.280; P < 0.001). Conclusion Our data confirm that cff‐DNA is cleared by the kidneys in detectable amounts, but due to its low concentration or problematic detection in maternal urine this source seems inappropriate for noninvasive prenatal diagnosis. Copyright © 2007 John Wiley & Sons, Ltd.