Results 31 to 40 of about 28,714 (240)

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Evaluating pregnancy termination rates for fetal chromosome and single gene disorders. [PDF]

J Genet Couns
Abstract We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023.
Herman MJ, Rosenfeld EB, Kasatkin N, Heiman GA, Khan SP, Ashkinadze E.   +5 more
europepmc   +2 more sources

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

Prenatal Diagnosis, EarlyView.
ABSTRACT Cytogenetic technologies such as G‐banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next‐generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with ...
Yassmine M. N. Akkari, Michael E. Talkowski, Amy M. Breman   +2 more
wiley   +1 more source

Single‐Step Universal First‐Trimester Cytomegalovirus Screening and Valacyclovir Prophylaxis in Pregnancy: A Cost‐Utility Analysis in a High Seroprevalence Setting

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the cost‐effectiveness of first trimester single‐step universal cytomegalovirus (CMV) serological screening with valacyclovir as vertical transmission prophylaxis versus routine ultrasound‐directed testing. Methods A payer perspective cost‐utility analysis was conducted on a hypothetical population of 100,000 pregnant ...
Zhi Zhen Lim, Clarence Ong, Ching Yee Chan, Kee Thai Yeo, Wei Yee Wan, Jerry Kok Yen Chan, Wei Ching Tan, Lay Kok Tan, Pamela Palasanthiran, Yi Wang, Liying Yang   +10 more
wiley   +1 more source

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype [PDF]

Clin Case Rep
ABSTRACT This case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking prenatal diagnosis and genetic counseling in parents to help plan for future pregnancies.
Hasegawa Y, Kitajima Y, Nagata K, Miura S, Miura K.   +4 more
europepmc   +2 more sources

Amniocentesis in HIV Pregnant Women: 16 Years of Experience

Infectious Diseases in Obstetrics and Gynecology, 2013
The iatrogenic risk of HIV vertical transmission, calculated in initial epidemiologic studies, seemed to counterindicate invasive prenatal diagnosis (PND) procedures.
M. Simões, Catarina Marques, A. Gonçalves, A. P. Pereira, J. Correia, J. Castela, C. Guerreiro   +6 more
semanticscholar   +1 more source

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

Maternal Mosaicism Challenges in Non‐Invasive Prenatal Diagnosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To report the incidental detection of maternal somatic mosaicism during the development of exclusion‐based non‐invasive prenatal diagnosis for monogenic disorders (NIPD‐MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.
Margot Comel, Marina Lamairia, Odile Boute, Camille Cenni, Anne Bergougnoux, Mireille Cossée, Michel Koenig, Luke Mansard, Marie‐Claire Vincent   +8 more
wiley   +1 more source

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi, Victor Gravrand, Claire Guerini, Olivia Anselem, Nicolas Vaucouleur, Lucie Orhant Boimard, Rachida Ben Ouazzou, Ceren Demirtas, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Emmanuelle Pannier, Juliette Nectoux   +12 more
wiley   +1 more source

Phthalates and Perfluorooctanesulfonic Acid in Human Amniotic Fluid: Temporal Trends and Timing of Amniocentesis in Pregnancy

Environmental Health Perspectives, 2012
Background: Measures of prenatal environmental exposures are important, and amniotic fluid levels may directly reflect fetal exposures during hypothesized windows of vulnerability.
M. S. Jensen, B. No̸rgaard-Pedersen, G. Toft, D. Hougaard, J. Bonde, A. Cohen, A. Thulstrup, R. Ivell, R. Anand-Ivell, C. Lindh, B. Jönsson   +10 more
semanticscholar   +1 more source