Results 71 to 80 of about 7,985 (170)

Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang   +8 more
doaj   +1 more source

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Molecular Genetics &Genomic Medicine, Volume 12, Issue 3, March 2024.
Abstract Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarriages, fetal demise, and confirming positive prenatal cell‐free DNA screening results.
Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung   +18 more
wiley   +1 more source

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. Case Reports: The fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of ...
Chih-Ping Chen, Yi-Ning Su, Shin-Yu Lin, Chih-Long Chang, Yeou-Lih Wang, Jiau-Pei Huang, Chen-Yu Chen, Fang-Yu Hung, Yi-Yung Chen, Pei-Chen Wu, Wayseen Wang   +10 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)]. Methods and Results: A 35-year-old woman underwent amniocentesis at
Chih-Ping Chen, Ming Chen, Schu-Rern Chern, Peih-Shan Wu, Shun-Ping Chang, Dong-Jay Lee, Yu-Ting Chen, Li-Feng Chen, Jun-Wei Su, Alan Hwa-Ruey Hsieh, Alex Hwa-Jiun Hsieh, Wayseen Wang   +11 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF). Materials and methods: This was the first pregnancy of a 31-year-old primigravid woman.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang   +8 more
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal diagnosis of mosaic trisomy 2. Materials and Methods: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22 ...
Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony

Taiwanese Journal of Obstetrics and Gynecology, 2013
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan e School of Chinese Medicine, College of Chinese Medicine, China
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Wayseen Wang   +5 more
openaire   +3 more sources

Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family

Prenatal Diagnosis, Volume 45, Issue 1, Page 134-137, January 2025.
Abdelhakim Bouazzaoui, Chloé Quélin, Céline Rozel, Wilfrid Carré, Christèle Dubourg, Sylvie Odent, Paul Rollier   +6 more
wiley   +1 more source

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes

, 2013
[[abstract]]We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32-p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis.
陳持平;Chen, Chih-Ping;Hua, Jian-Pei;Huang, Jian-Pei;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen
core  

Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis [PDF]

, 2016
ObjectiveWe present prenatal diagnosis of pseudomosaicism for trisomy 5 and a review of the literature of mosaic trisomy 5 at amniocentesis.Case ReportA 39-year-old woman underwent amniocentesis at 17 weeks of gestation, which revealed a karyotype of 47 ...
Chern, Schu-Rern, Peih-Shan Wu, Chen, Shin-Wen, Yen-Ni Chen, Wang, Wayseen, Schu-Rern Chern, Yang, Chien-Wen, Chen, Chih-Ping, Chen, Yen-Ni, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang, Pan, Chen-Wen, Chih-Ping Chen, Shing-Jyh Chang, Chang, Shing-Jyh, Wu, Peih-Shan, Shin-Wen Chen   +17 more
core   +1 more source