Results 61 to 70 of about 7,985 (170)

High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with a favorable fetal outcome and cytogenetic discrepancy in various tissues

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis of high-level mosaicism for 45,X by amniocentesis in a pregnancy with a favorable fetal outcome. Case report: A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Chen-Chi Lee, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang   +8 more
doaj   +1 more source

Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy. Case report: A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because ...
Chih-Ping Chen, Te-Yao Hsu, Ching-Chang Tsai, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Peih-Shan Wu, Chen-Chi Lee, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with central nervous system abnormalities. Case report: A 39-year-old woman was found to have fetal bilateral ventriculomegaly and enlargement of the third ventricle
Chih-Ping Chen, Chin-Yuan Hsu, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Wayseen Wang   +5 more
doaj   +1 more source

Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
We present the most comprehensive synthesis to date of prenatal phenotypes associated with PPP2R1A‐related neurodevelopmental disorders. Ventriculomegaly, callosal anomalies, and heart defects are key prenatal indicators, supporting early diagnosis and informed genetic counseling.
Jiancheng Hu, Jialun Pang, Lin Zhou, Haiyan Kuang, Wenxian Yu, Ying Peng   +5 more
wiley   +1 more source

Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome

, 2023
Objective: We present low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) and chorionic villus sampling (CVS) results for trisomy 2, maternal uniparental disomy (UPD) 2, perinatal ...
Fang-Tzu Wu, Wayseen Wang, Yen-Ting Pan, Chih-Ping Chen, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Chen-Wen Pan   +7 more
core   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II [PDF]

, 2013
ObjectiveTo present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2).Case ReportA 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation ...
Chern, Schu-Rern, Lin, Ming-Huei, Jun-Wei Su, Wayseen Wang, Chih-Ping Chen, Wang, Wayseen, Ming-Huei Lin, Schu-Rern Chern, Chang, Tung-Yao, Chen, Chih-Ping, Su, Jun-Wei, Tung-Yao Chang   +11 more
core   +2 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 2, Page 124-133, June 2025.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 15 without uniparental disomy (UPD) 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the ...
Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Yun-Yi Chen, Wayseen Wang   +7 more
doaj   +1 more source

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome [PDF]

, 2013
ObjectiveTo present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome.Case ReportA 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chern, Schu-Rern, Jun-Wei Su, Chen-Yu Chen, Wang, Wayseen, Schu-Rern Chern, Chen, Chih-Ping, Su, Jun-Wei, Su, Yi-Ning, Yi-Ning Su, Wayseen Wang, Chih-Ping Chen, Chang, Tung-Yao, Chen, Chen-Yu, Tung-Yao Chang   +13 more
core   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping

Journal of Clinical Laboratory Analysis, Volume 39, Issue 4, February 2025.
This study explores the complementary roles of chromosomal microarray analysis (CMA) and karyotyping in detecting chromosomal mosaicism in prenatal diagnosis. By analyzing 2007 amniocentesis cases, it demonstrates how combining both methods improves detection accuracy, particularly in cases where one method alone may miss subtle abnormalities.
Chenxia Xu, Yi Xiong, Degang Wang, Sheng Zhang, Xuewei Wu, Miaoyuan Li   +5 more
wiley   +1 more source