Results 51 to 60 of about 15,005 (199)

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

American Journal of Perinatology Reports, 2020
Background Advances in genetic screening can identify patients at high risk for common genetic conditions early in pregnancy and can facilitate early diagnosis and early abortion. Less common abnormalities might only be diagnosed with invasive testing is
Tracy B. Grossman, Stephen T. Chasen
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Exploring Women’s Experiences of Amniocentesis: A Qualitative Content Analysis

Iranian Journal of Nursing and Midwifery Research
Background: The decision and experience of high-risk pregnant women to undergo amniocentesis can depend on their setting, context, social structures, and significant others, including cultural values and beliefs.
Jaruwan Kownaklai, Umaporn Kuasit, Nanthiya Thaicharoen   +2 more
doaj   +1 more source

Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9. Materials, Methods and Results: A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age ...
Chih-Ping Chen, Hsien-Ming Lin, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Assessment of Second Trimester Genetic Amniocentesis: A Review of 6 Years of Experience at Sanpatong Hospital, A Mid-level Secondary Hospital Setting

Biomedical Sciences and Clinical Medicine
OBJECTIVE This study aims to assess the indications, complications, and outcomes of second-trimester genetic amniocentesis performed at Sanpatong Hospital, Chiang Mai, Thailand.
Surachai Ponglopisit, Jantira Wisuthimateenorn, Kuttareeya pheungsontonsirimas, Maneewan Inta   +3 more
doaj   +1 more source

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang   +9 more
doaj   +1 more source

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

Prenatal Diagnosis, EarlyView.
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

Unbalanced and Balanced Acrocentric Rearrangements Involving Chromosomes Other Than Chromosome 21 at Amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. Materials and Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay ...
Chih-Ping Chen, Schu-Rern Chern, Pei-Chen Wu, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source