Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood
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چکیده
Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11–13 weeks’ gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymerase chain reaction amplification of cfDNA followed by sequencing of single nucleotide polymorphic loci covering chromosomes 13, 18, 21, X, and Y was performed. Sequencing data were analyzed using the NATUS algorithm which identifies copy number for each of the five chromosomes. Results: cfDNA testing provided a result in 44 (91.7%) of the 48 euploid cases and correctly predicted the fetal sex and the presence of two copies each of chromosome 21, 18 and 13. In diandric triploidy, cfDNA testing identified multiple paternal haplotypes (indicating fetal trisomy 21, trisomy 18 and trisomy 13) suggesting the presence of either triploidy or dizygotic twins. In digynic triploidy the fetal fraction corrected for maternal Received: August 12, 2013 Accepted after revision: September 16, 2013 Published online: October 10, 2013 Prof. K.H. Nicolaides Harris Birthright Research Centre for Fetal Medicine King’s College Hospital Denmark Hill, London SE5 9RS (UK) E-Mail kypros @ fetalmedicine.com © 2013 S. Karger AG, Basel 1015–3837/13/0000–0000$38.00/0
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OBJECTIVE To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. METHODS Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n=4), digynic triploidy (n=4), euploid fetuses (n=48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymer...
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