Results 191 to 200 of about 200,786 (315)

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Prevalence of hypothyroidism among pregnant women and associated feto-maternal outcomes in India: Systematic review and meta-analysis. [PDF]

Indian J Med Res
Manna S, Mukherjee R, Kandpal V, Zode M, Kulkarni B, Lyngdoh T.   +5 more
europepmc   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source

First-Trimester Ultrasound: A Comparative Review of Guidelines. [PDF]

Diagnostics (Basel)
Boureka E, Tsakiridis I, Michos G, Liberis A, Giouleka S, Mamopoulos A, Kalogiannidis I, Dagklis T.   +7 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Gestational Dynamics of Hofbauer Cells in the Human Placenta: Distribution, Morphology, and Immunophenotype. [PDF]

J Dev Biol
Jovičić S, Nikolić IR, Božić L, Jović M, Kapić D, Škrbić R.   +5 more
europepmc   +1 more source

Ultrasound‐based renal growth curves in Chinese children aged 0–14 years

Pediatric Investigation, EarlyView.
Between June 2016 and July 2023, 6033 Chinese children aged 0–14 were recruited from our hospital using renal ultrasound examinations. This study provides comprehensive reference data for renal development in Chinese children aged 0–14 years, highlighting age‐related patterns and strong positive associations with height.
Baohuan Cai, Wei Zhang, Huiming Yi, Liru Qiu, Xiaoping Luo   +4 more
wiley   +1 more source

Risk of disseminated tuberculosis and other infections after neonatal Bacillus Calmette-Guérin vaccination in infants with <i>in-utero</i> exposure to tumor necrosis factor-α inhibitors. [PDF]

Front Med (Lausanne)
Al Emadi S, Alebbi S, Hadwan N, Alsaed O, Cackamvalli PM, Abunahia N, Satti E.   +6 more
europepmc   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source