Early detection of cell-free fetal DNA in maternal plasma

S. Illanes*, M. Denbow, C. Kailasam, K. Finning, P. W. Soothill

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

69 Scopus citations


Objectives: We aimed to establish the earliest gestational age at which fetal DNA in maternal plasma could be detected and whether this was reliable at 12-13 weeks' gestation. Study design: A prospective observational cohort study of 32 pregnancies either after IVF or before prenatal diagnosis by CVS. Maternal blood was taken and RT-PCR was carried out to detect the multi-copy Y chromosome associated DSY14 gene. The end point was gender as assessed at delivery or on karyotype. Results: Y signal was obtained as early as 14 days post conception (4 weeks' gestation) and has a good prediction rate by 12 weeks' gestation. Conclusion: Free fetal DNA allows very early prediction of fetal sex in some cases and could be useful for clinical use for X-linked conditions by the end of the first trimester.

Original languageEnglish
Pages (from-to)563-566
Number of pages4
JournalEarly Human Development
Issue number9
StatePublished - Sep 2007
Externally publishedYes


  • DYS14 gene
  • Earliest gestational age
  • Fetal DNA
  • Maternal plasma


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