Digynic triploidy: utility and challenges of noninvasive prenatal testing
نویسندگان
چکیده
Low fraction fetal DNA in noninvasive prenatal testing in the context of fetal growth restriction and multiple congenital anomalies should alert medical professionals to the possibility of digynic triploidy. Single-nucleotide polymorphism microarray can detect the parental origin of triploidy and explain its mechanism.
منابع مشابه
Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood.
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...
متن کاملPrenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood
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 p...
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Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...
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The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) informat...
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