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1 Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy 40138.
2 Departments of Pediatrics and Obstetrics and Gynecology, Tufts-New England Medical Center, Boston, MA 02111.
Departments of
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Pathology and Laboratory Medicine and
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Obstetrics and Gynecology, Women and Infants Hospital, Brown Medical School, Providence, RI 02905.
5 Foundation for Blood Research, Scarborough, ME 04074.
aAddress correspondence to this author at: Tufts-New England Medical Center, 750 Washington St. No. 394, Boston, MA 02111. Fax 617-636-1469; e-mail Dbianchi{at}Lifespan.org.
Background: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome.
Methods: Data on maternal serum fetal DNA concentrations and the corresponding concentrations of the quadruple serum markers were available from 15 Down syndrome cases, each matched for gestational age and length of freezer storage, with 5 control samples. Analyte values were expressed as multiple(s) of the control or population median. Screening performance of fetal DNA, both alone and when added to estimates of quadruple marker performance, was determined after modeling using univariate and multivariate gaussian distribution analysis.
Results: The median fetal DNA concentration in Down syndrome cases was 1.7 times higher than in controls. In univariate analysis, fetal DNA gave a 21% detection rate at a 5% false-positive rate. When added to quadruple marker screening, fetal DNA increased the estimated detection rate from 81% to 86% at a 5% false-positive rate.
Conclusions: Cell-free fetal DNA, measured in maternal serum, can modestly increase screening performance above what is currently available in the second trimester. If and when maternal serum fetal DNA can be measured in pregnancies with both male and female fetuses, the utility and cost-effectiveness of adding it as a Down syndrome screening marker should be assessed.
The following articles in journals at HighWire Press have cited this article:
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  C. J. Jorgez, D. D. Dang, R. Wapner, A. Farina, J. L. Simpson, and F. Z. Bischoff Elevated levels of total (maternal and fetal) beta-globin DNA in maternal blood from first trimester pregnancies with trisomy 21 Hum. Reprod., August 1, 2007; 22(8): 2267 - 2272. [Abstract] [Full Text] [PDF]
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Y.M DENNIS LO Fetal DNA in Maternal Plasma: Progress through Epigenetics. Ann. N.Y. Acad. Sci., September 1, 2006; 1075: 74 - 80. [Abstract] [Full Text] [PDF]
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P. D. Pan, I. Peter, G. M. Lambert-Messerlian, J. A. Canick, D. W. Bianchi, and K. L. Johnson Cell-free fetal DNA levels in pregnancies conceived by IVF Hum. Reprod., November 1, 2005; 20(11): 3152 - 3156. [Abstract] [Full Text] [PDF]
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 F. Z. Bischoff, D. E. Lewis, and J. L. Simpson Cell-free fetal DNA in maternal blood: kinetics, source and structure Hum. Reprod. Update, January 1, 2005; 11(1): 59 - 67. [Abstract] [Full Text] [PDF]
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K. Khosrotehrani, T. Wataganara, D. W. Bianchi, and K. L. Johnson Fetal cell-free DNA circulates in the plasma of pregnant mice: relevance for animal models of fetomaternal trafficking Hum. Reprod., November 1, 2004; 19(11): 2460 - 2464. [Abstract] [Full Text] [PDF]
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 T. Wataganara, I. Peter, G. M. Messerlian, L. Borgatta, and D. W. Bianchi Inverse Correlation Between Maternal Weight and Second Trimester Circulating Cell-Free Fetal DNA Levels Obstet. Gynecol., September 1, 2004; 104(3): 545 - 550. [Abstract] [Full Text] [PDF]
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T. WATAGANARA and D. W. BIANCHI Fetal Cell-Free Nucleic Acids in the Maternal Circulation: New Clinical Applications Ann. N.Y. Acad. Sci., June 1, 2004; 1022(1): 90 - 99. [Abstract] [Full Text] [PDF]
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Y. Li, B. Zimmermann, C. Rusterholz, A. Kang, W. Holzgreve, and S. Hahn Size Separation of Circulatory DNA in Maternal Plasma Permits Ready Detection of Fetal DNA Polymorphisms Clin. Chem., June 1, 2004; 50(6): 1002 - 1011. [Abstract] [Full Text] [PDF]
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K. L. Johnson, K. A. Dukes, J. Vidaver, E. S. LeShane, I. Ramirez, W. D. Weber, F. Z. Bischoff, S. Hahn, A. Sharma, D. X. Dang, et al. Interlaboratory Comparison of Fetal Male DNA Detection from Common Maternal Plasma Samples by Real-Time PCR Clin. Chem., March 1, 2004; 50(3): 516 - 521. [Abstract] [Full Text] [PDF]
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A. Sekizawa, A. Farina, Y. Sugito, R. Matsuoka, M. Iwasaki, H. Saito, and T. Okai Proteinuria and Hypertension Are Independent Factors Affecting Fetal DNA Values: A Retrospective Analysis of Affected and Unaffected Patients Clin. Chem., January 1, 2004; 50(1): 221 - 224. [Full Text] [PDF]
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M. Smid, S. Galbiati, A. Vassallo, D. Gambini, A. Ferrari, G. Restagno, E. Viora, M. Pagliano, S. Calza, M. Ferrari, et al. Fetal DNA in Maternal Plasma in Twin Pregnancies Clin. Chem., September 1, 2003; 49(9): 1526 - 1528. [Full Text] [PDF]
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