Diagnostics (May 2013)

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

  • Maria Jose Trujillo-Tiebas,
  • Laura Horcajada,
  • Marta Ruiz Ramos,
  • Marta Rodriguez de Alba,
  • Javier Plaza,
  • Isabel Lorda-Sanchez,
  • Ana Bustamante-Aragones,
  • Sara Perlado-Marina

Journal volume & issue
Vol. 3, no. 2
pp. 283 – 290


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Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol. As a consequence there are almost as many protocols as laboratories offering the service, using different methodologies and thus obtaining different diagnostic accuracies. By the end of 2007, after a validation study performed in 316 maternal samples collected between the 5th and 12th week of gestation, the fetal sex determination was incorporated into clinical practice in our Service. The test is performed in the first trimester of pregnancy, and it is offered as part of the genetic counseling process for couples at risk of X-linked disorders. As a general rule and in order to avoid misdiagnosis, two samples at different gestational ages are tested per patient. The analysis is performed by the study of the SRY gene by RT-PCR. Two hundred and twenty six pregnancies have been tested so far in these 5 years. Neither false positives nor false negatives diagnoses have been registered, thus giving a diagnostic accuracy of 100%.