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C. J. Searle, K. Smith, G. Daniels, E. J. Maher and O. Quarrell Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion Prenatal Diagnosis 33

Version of Record online: 1 APR 2013 | DOI: 10.1002/pd.4078

What's already known about this topic?

  • Cell-free fetal DNA testing is commonly used as a noninvasive method of determing fetal sex.
  • Presence of sex-determining region Y (SRY) on the X chromosome is associated with a variable sexual phenotype.

What does this study add?

  • Details an unexpected cell-free fetal DNA sexing result.
  • Highlights the importance of using the technique of quantitative polymerase chain reaction in free fetal DNA testing.
  • If a similar result is found again, we would recommend further testing of the maternal chromosomes to look for a translocation encompassing the sex-determining region Y (SYR) gene.

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