Results 41 to 50 of about 210 (79)

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.
Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Schu-Rern Chern, Chen-Chi Lee, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang   +7 more
doaj   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT This case demonstrates the value of cell‐free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non‐specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping confirmation and integrated genetic counseling are essential for diagnosing 5q14.3q15 deletion ...
Ying Hao, Qingfa Huang, Yong Xu, Xingping Li, Peining Li, Weiqing Wu, Bo Wu, Wenlan Liu   +7 more
wiley   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source

Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chien-Wen Yang, Chien-Ling Chiu, Wayseen Wang   +6 more
doaj   +1 more source

Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature. Materials, Methods, and Results: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of abnormal maternal serum ...
Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Yu-Ting Chen, Peih-Shan Wu, Jun-Wei Su, Chen-Wen Pan, Wayseen Wang   +7 more
doaj   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Jacob's Syndrome and Hearing Loss: A Case Study

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri, Ali Kouhi, Mojtaba Alidoust, Amineh Koravand   +3 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source