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Human Genetics

, Volume 117, Issue 2–3, pp 243–248 | Cite as

Fetal DNA detection in maternal plasma throughout gestation

  • Silvia Galbiati
  • Maddalena Smid
  • Dania Gambini
  • Augusto Ferrari
  • Gabriella Restagno
  • Elsa Viora
  • Mario Campogrande
  • Simona Bastonero
  • Marco Pagliano
  • Stefano Calza
  • Maurizio Ferrari
  • Laura CremonesiEmail author
Original Investigation

Abstract

The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal period to obtain a maternal blood sample yielding an adequate amount of fetal DNA for prenatal diagnosis, and to evaluate accuracy and predictive values of this approach. This information is crucial to develop safe and reliable non-invasive genetic testing in early pregnancy and monitoring of pregnancy complications in late gestation. Fetal DNA quantification in maternal plasma was carried out by real-time PCR on the SRY gene in male-bearing pregnancies to distinguish between maternal and fetal DNA. A cohort of 1,837 pregnant women was investigated. Fetal DNA could be detected from the sixth week and could be retrieved at any gestational week. No false-positive results were obtained in 163 women with previous embryo loss or previous male babies. Fetal DNA analysis performed blindly on a subset of 464 women displayed 99.4, 97.8 and 100% accuracy in fetal gender determination during the first, second, and third trimester of pregnancy, respectively. No SRY amplification was obtained in seven out of the 246 (2.8%) male-bearing pregnancies. Fetal DNA from maternal plasma seems to be an adequate and reliable source of genetic material for a noninvasive prenatal diagnostic approach.

Keywords

Blood Group Prenatal Diagnosis Maternal Plasma Female Fetus Fetal Gender 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

This work was supported by Telethon, Project number GGP02015 (L.C.), MIUR Cofin 2002 (A.F.).

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Silvia Galbiati
    • 1
  • Maddalena Smid
    • 2
  • Dania Gambini
    • 2
  • Augusto Ferrari
    • 2
  • Gabriella Restagno
    • 3
  • Elsa Viora
    • 4
  • Mario Campogrande
    • 4
  • Simona Bastonero
    • 4
  • Marco Pagliano
    • 5
  • Stefano Calza
    • 6
  • Maurizio Ferrari
    • 1
    • 7
  • Laura Cremonesi
    • 1
    Email author
  1. 1.Unit of Genomics for Diagnosis of Human PathologiesIRCCS H. San RaffaeleMilanItaly
  2. 2.Department of Obstetrics and GynecologyIRCCS H. San RaffaeleMilanItaly
  3. 3.Struttura Complessa Genetica MolecolareA.O.O.I.R.M.-S. AnnaTorinoItaly
  4. 4.Centro di Ecografia e Diagnosi PrenataleOspedale S. AnnaTorinoItaly
  5. 5.Cattedra AUniversità di TorinoTorinoItaly
  6. 6.Sezione di Statistica Medica e Biometria, Dipartimento di Scienze Biomediche e BiotecnologieUniversità di BresciaBresciaItaly
  7. 7.Diagnostica e Ricerca S. Raffaele S.p.A.H. San RaffaeleMilanItaly

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