Uncultured Amniocytes Enable Rapid and Clinically Informative Prenatal RNA Sequencing for Genetic Diagnosis. [PDF]
Int J Mol SciRNA sequencing (RNA-seq) provides transcript-level evidence for interpreting variants of uncertain significance in monogenic disorders, but its prenatal application is limited by sample availability and processing time. This study evaluated uncultured amniocytes as a practical substrate for prenatal RNA-seq.
Lu J +13 more
europepmc +3 more sources
Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes [PDF]
Taiwanese Journal of Obstetrics and Gynecology, 2016 Objective: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.
Yen-Ni Chen +2 more
exaly +4 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present 45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.
Chih-Ping Chen +4 more
doaj +4 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for trisomy 16, placental trisomy 16, intrauterine growth restriction (IUGR), intrauterine fetal death (IUFD ...
Chih-Ping Chen +7 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction (IUGR), cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and ...
Chih-Ping Chen +9 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen +5 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes.
Chih-Ping Chen +8 more
doaj +2 more sources
Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis [PDF]
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: This study aimed at presenting prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by fluorescence in situ hybridization (FISH), quantitative fluorescent ...
Chih-Ping Chen +10 more
doaj +2 more sources
Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister–Killian syndrome [PDF]
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: This study aims to present molecular cytogenetic characterization of Pallister–Killian syndrome (PKS). Materials and methods: A 37-year-old woman underwent amniocentesis at 18 weeks of gestation.
Chih-Ping Chen +8 more
doaj +2 more sources
Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism [PDF]
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: To present prenatal diagnosis of true trisomy 7 mosaicism. Materials, Methods and Results: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+7[20]/46,XY[9].
Chih-Ping Chen +9 more
doaj +2 more sources