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ArtikelReliability of Fetal Sex Determination Using Maternal Plasma  
Oleh: Scheffer, Peter G. ; van der Schoot, C Ellen ; Page-Christiaens, Godelieve C. M. L.
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Obstetrics and Gynecology vol. 115 no. 01 (Jan. 2010), page 117-126.
Topik: OBSTETRI GINEKOLOGI
Ketersediaan
  • Perpustakaan FK
    • Nomor Panggil: O01.K.2010.01
    • Non-tandon: 1 (dapat dipinjam: 0)
    • Tandon: tidak ada
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Isi artikelOBJECTIVE: To determine the diagnostic accuracy of noninvasive fetal sex determination in maternal plasma. METHODS: All consecutive patients for whom fetal sex determination in maternal plasma was performed in our laboratory from 2003 up to 2009 were included in the study. Real-time polymerase chain reaction was performed for the SRY gene and multicopy DYS14 marker sequence. A stringent diagnostic algorithm was applied. In the case of a positive result for both Y chromosome–specific assays, a male-bearing pregnancy was reported. In the case of a negative result, the presence of fetal DNA was ascertained through the use of 24 biallelic insertion/deletion polymorphisms or paternally inherited blood group antigens. Only if the presence of fetal DNA was confirmed was a female-bearing pregnancy reported. Results were compared with the pregnancy outcomes. RESULTS: A total of 201 women were tested. The median gestational age was 9 0/7 weeks (interquartile range 8 0/7 to 10 0/7 weeks). In 189 of 201 cases (94%), a test result was issued; in 10 cases, the presence of fetal DNA could not be confirmed; in two cases, an early miscarriage was observed. Pregnancy outcome was obtained in 197 cases, including 105 male-bearing and 81 female-bearing pregnancies and 11 miscarriages. Sensitivity and specificity of the test were 100% (95% confidence intervals 96.6–100% and 95.6–100%, respectively). In all 10 cases in which the presence of fetal DNA could not be confirmed, a female was born. CONCLUSION: Noninvasive fetal sex determination in maternal plasma is highly reliable and clinically applicable.
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