OBJECTIVE: To describe our clinical experience with detection and analysis of cell-free fetal DNA derived from maternal plasma for prenatal sexing and fetal rhesus-D typing. METHODS: Real-time quantitative polymerase chain reactions (PCRs) of rhesus-D sequences and the SRY gene were validated and offered to patients with an enhanced risk for sex-linked fetal pathology and patients with rhesus-D antibodies. RESULTS: In the validation group, 72 samples were analyzed. Sensitivity of the rhesus-D real-time quantitative PCR in maternal plasma was 100% (95% confidence interval [CI]91.8%, 100%) and specificity was 96.6% (95% CI 82.2%, 99.9%). Sensitivity of the SRY real-time quantitative PCR was 97.2% (95% CI 85.5%, 99.9%), and specificity was 100% (95% CI 88.1%, 100%). The technique was used successfully in a clinical setting in 24 women. Overall, invasive tests were avoided in 41.7% of these patients. CONCLUSION: Detection of cell-free fetal DNA from maternal plasma is a reliable technique that can substantially reduce invasive prenatal tests.
OBJECTIVE: To describe our clinical experience with detection and analysis of cell-free fetal DNA derived from maternal plasma for prenatal sexing and fetal rhesus-D typing. METHODS: Real-time quantitative polymerase chain reactions (PCRs) of rhesus-D sequences and the SRY gene were validated and offered to patients with an enhanced risk for sex-linked fetal pathology and patients with rhesus-D antibodies. RESULTS: In the validation group, 72 samples were analyzed. Sensitivity of the rhesus-D real-time quantitative PCR in maternal plasma was 100% (95% confidence interval [CI]91.8%, 100%) and specificity was 96.6% (95% CI 82.2%, 99.9%). Sensitivity of the SRY real-time quantitative PCR was 97.2% (95% CI 85.5%, 99.9%), and specificity was 100% (95% CI 88.1%, 100%). The technique was used successfully in a clinical setting in 24 women. Overall, invasive tests were avoided in 41.7% of these patients. CONCLUSION: Detection of cell-free fetal DNA from maternal plasma is a reliable technique that can substantially reduce invasive prenatal tests.
Authors: Chunming Ding; Rossa W K Chiu; Tze K Lau; Tse N Leung; Li C Chan; Amy Y Y Chan; Pimlak Charoenkwan; Ivy S L Ng; Hai-Yang Law; Edmond S K Ma; Xiangmin Xu; Chanane Wanapirak; Torpong Sanguansermsri; Can Liao; Mary Anne Tan Jin Ai; David H K Chui; Charles R Cantor; Y M Dennis Lo Journal: Proc Natl Acad Sci U S A Date: 2004-07-09 Impact factor: 11.205
Authors: Thomasz Adamczyk; Andrea Doescher; Paul V Haydock; Russ Aldrich; Eduard K Petershofen; Thomas H Müller Journal: Transfus Med Hemother Date: 2015-10-26 Impact factor: 3.747
Authors: Elena Picchiassi; Gian Carlo Di Renzo; Federica Tarquini; Vittorio Bini; Michela Centra; Luana Pennacchi; Fabiana Galeone; Mara Micanti; Giuliana Coata Journal: Transfus Med Hemother Date: 2014-12-22 Impact factor: 3.747