Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis

American Journal of Human Genetics
Y M LoN M Hjelm

Abstract

We have developed a real-time quantitative PCR assay to measure the concentration of fetal DNA in maternal plasma and serum. Our results show that fetal DNA is present in high concentrations in maternal plasma, reaching a mean of 25.4 genome equivalents/ml (range 3.3-69. 4) in early pregnancy and 292.2 genome equivalents/ml (range 76. 9-769) in late pregnancy. These concentrations correspond to 3.4% (range 0.39%-11.9%) and 6.2% (range 2.33%-11.4%) of the total plasma DNA in early and late pregnancy, respectively. Sequential follow-up study of women who conceived by in vitro fertilization shows that fetal DNA can be detected in maternal serum as early as the 7th wk of gestation and that it then increases in concentration as pregnancy progresses. These data suggest that fetal DNA can be readily detected in maternal plasma and serum and may be a valuable source of material for noninvasive prenatal diagnosis.

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Citations

Dec 13, 2000·Prenatal Diagnosis·A SekizawaD W Bianchi
May 29, 2004·Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban·Yin Zhao, Li Zou
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Jul 4, 2013·Medical Microbiology and Immunology·Serena DelbuePasquale Ferrante
May 21, 2005·Human Genetics·Silvia GalbiatiLaura Cremonesi
Jan 28, 2005·Journal of Assisted Reproduction and Genetics·Jennifer S ChouPhilip J Chan
Jul 29, 2005·Journal of Assisted Reproduction and Genetics·Elaine A HartPhilip J Chan
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Aug 7, 2012·Veterinary Research Communications·Mohammad Reza DivarMojtaba Kafi
Oct 8, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Claire ColmantMarie-Victoire Senat
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Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·F Javier Fernández-MartínezAna Moreno-Izquierdo

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