OBJECTIVES: QF-PCR can be used to rapidly diagnose primary trisomy in prenatal samples. Our objectives were to estimate the prevalence of primary trisomy mosaicism for chromosomes 13, 18 or 21 in a cohort of prenatal samples, and to compare and contrast the detection of this mosaicism using both QF-PCR and karyotype analysis. METHODS: Data was collated from all prenatal samples displaying mosaicism for a primary trisomy between June 2000 and March 2004. Levels of mosaicism were estimated and samples were categorised according to the cell population in which the mosaicism was detected. RESULTS: In a total of 8983 samples, 18 samples (0.20%) displaying mosaicism were detected, including trisomy 13 (three samples), trisomy 18 (seven samples), trisomy 21 (seven samples) and mosaic triploidy (one sample). This included 7 amniotic fluid and 11 chorionic villus samples. Mosaicism was detected by QF-PCR in 12 samples and by karyotype analysis in 8 samples. CONCLUSIONS: QF-PCR can detect mosaicism when the abnormal cell line contributes at least 15% of the whole sample. Use of both karyotype and QF-PCR analysis leads to the detection of more cases of mosaicism than either test alone. Copyright (c) 2005 John Wiley & Sons, Ltd.
OBJECTIVES: QF-PCR can be used to rapidly diagnose primary trisomy in prenatal samples. Our objectives were to estimate the prevalence of primary trisomy mosaicism for chromosomes 13, 18 or 21 in a cohort of prenatal samples, and to compare and contrast the detection of this mosaicism using both QF-PCR and karyotype analysis. METHODS: Data was collated from all prenatal samples displaying mosaicism for a primary trisomy between June 2000 and March 2004. Levels of mosaicism were estimated and samples were categorised according to the cell population in which the mosaicism was detected. RESULTS: In a total of 8983 samples, 18 samples (0.20%) displaying mosaicism were detected, including trisomy 13 (three samples), trisomy 18 (seven samples), trisomy 21 (seven samples) and mosaic triploidy (one sample). This included 7 amniotic fluid and 11 chorionic villus samples. Mosaicism was detected by QF-PCR in 12 samples and by karyotype analysis in 8 samples. CONCLUSIONS: QF-PCR can detect mosaicism when the abnormal cell line contributes at least 15% of the whole sample. Use of both karyotype and QF-PCR analysis leads to the detection of more cases of mosaicism than either test alone. Copyright (c) 2005 John Wiley & Sons, Ltd.
Authors: Celia Badenas; Laia Rodríguez-Revenga; Carme Morales; Carmen Mediano; Alberto Plaja; Ma Mar Pérez-Iribarne; Anna Soler; Núria Clusellas; Antoni Borrell; Ma Ángeles Sánchez; Elisabeth Miró; Aurora Sánchez; Montserrat Milà; Wladimiro Jiménez Journal: J Mol Diagn Date: 2010-10-01 Impact factor: 5.568
Authors: You Jung Shin; Jin Hoon Chung; Do Jin Kim; Hyun Mee Ryu; Moon Young Kim; Jung Yeol Han; June Seek Choi Journal: Obstet Gynecol Sci Date: 2016-11-15