Results 1 to 10 of about 7,985 (170)

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis

Taiwanese Journal of Obstetrics and Gynecology, 2020
Objective: We present mosaic trisomy 15 at amniocentesis. Materials and methods: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of an abnormal non-invasive prenatal testing (NIPT) result suspicious of trisomy 15 ...
Te-Yao Hsu, Tsang-Ming Ko, Yun-Yi Chen   +2 more
exaly   +6 more sources

Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis [PDF]

Taiwanese Journal of Obstetrics and Gynecology, 2015
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaic isochromosome 20q at amniocentesis. Materials and methods: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age,
Yu-Ling Kuo, Jun-Wei Su, Chien-Wen Yang   +2 more
exaly   +6 more sources

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18

Taiwanese Journal of Obstetrics and Gynecology, 2022
Objective: We present prenatal diagnosis of mosaic trisomy 18 in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18. Case report: A 38-year-old, primigravid woman underwent the first amniocentesis at 16 weeks of gestation ...
Yun-Yi Chen, Shin-Wen Chen, Fang-Tzu Wu   +2 more
exaly   +6 more sources

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics and Gynecology, 2022
Objective: We present our observation of cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis
Yi-Hui Lin, Yun-Yi Chen, Shin-Wen Chen   +2 more
exaly   +5 more sources

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics and Gynecology, 2022
Objective: We present prenatal diagnosis of mosaic trisomy 15 in a pregnancy with a favorable outcome. Case report: A 33-year-old, primigravid woman underwent amniocentesis at 19 weeks of gestation because non-invasive prenatal testing (NIPT) revealed ...
Tsang-Ming Ko, Yun-Yi Chen, Shin-Wen Chen   +2 more
exaly   +5 more sources

Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes. [PDF]

J Turk Ger Gynecol Assoc, 2010
To test whether the Multiplex Ligation-dependent Probe Amplification (MLPA) technique can be used as a screening test for rapid diagnosis of aneuploidies in uncultured amniocentesis.In this prospective blind study, MLPA with chromosomes 13,18,21,X and Y specific probe mixes was performed in 500 amniotic fluid samples.
Yurdakul H, Durak B, Müslümanoğlu MH, Ozdemir M, Cilingir O, Sener T, Artan S.   +6 more
europepmc   +4 more sources

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features [PDF]

Molecular Cytogenetics
Introduction A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.
Xingkun Yang, Yasi Zhou, Xiaodan Zhu, Tingting Xiao, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaoling Guo, Chao Li   +8 more
doaj   +2 more sources

Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics and Gynecology, 2021
Objective: We present prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes ...
Tsang-Ming Ko, Yun-Yi Chen, Shin-Wen Chen   +2 more
exaly   +3 more sources

Rapid prenatal diagnosis of Down Syndrome using quantitative fluorescent PCR in uncultured amniocytes. [PDF]

J Korean Med Sci, 2004
Rapid prenatal diagnosis of common chromosome aneuploidies have been successful through quantitative fluorescent PCR (QF-PCR) assays and small tandem repeat (STR) markers. The purpose of our study was to investigate the clinical feasibility for rapid prenatal detection of Down syndrome using the quantitative fluorescent PCR in uncultured amniocytes ...
Lee MH, Ryu HM, Kim DJ, Lee BY, Cho EH, Yang JH, Kim MY, Han JY, Park SY.   +8 more
europepmc   +4 more sources

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics and Gynecology, 2022
We present our observation of cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic dup(9)(q22.3q34.1) at amniocentesis in a pregnancy with a favorable outcome.A 37-year-old, gravida 4, para 0, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of
Yun-Yi Chen, Shin-Wen Chen, Fang-Tzu Wu   +2 more
exaly   +3 more sources