Results 51 to 60 of about 4,085 (262)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Correlation Between Sagittal and Transverse Plane Fetal Nuchal Translucency Measurement

Siriraj Medical Journal
Objective: This study aimed to evaluate and compare nuchal translucency (NT) measurement between sagittal and transverse planes for aneuploidy screening.
Pananya Jomphansa, Suthasinee Metaneedol, Sinart Prommas, Buppa Smanchat, Kornkarn Bhamarapravatana, Komsun Suwannarurk   +5 more
doaj   +1 more source

First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker

Reproductive Biology and Endocrinology, 2010
Background A disintegrin and metalloprotease 12 (ADAM12-S) has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk ...
Guitton Marie, Sarkissian Gaïané, Wright Dave, Ball Susan, Tørring Niels, Darbouret Bruno   +5 more
doaj   +1 more source

Analysis of Quality of Nuchal Translucency Measurements

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2011
ABSTRACT Objective Quantitative analysis of the quality of nuchal translucency (NT) measurements. Methods This is a retrospective single-center study. NT was measured according to the Fetal Medicine Foundation (FMF) criteria by 20 trained obstetricians (October 2003-November 2009).
Mónica Echevarria, Carmen Comas, Bernat Serra, Ignacio Rodríguez, Joan Sabrià   +4 more
openaire   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [PDF]

, 2016
published_or_final_versio
Chan, KY, Kan, SYA, Kou, KOT, Kwok, SL, Leung, KY, Poon, CF, Tang, MHY   +6 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Comment le risque devient une évidence : praticiens, femmes enceintes et dépistage prénatal de la trisomie 21

Socio-anthropologie, 2014
In France as in other industrialized countries, pregnancy is regarded as a risk period. As such, a medical surveillance on a regular basis is necessary.
Carine Vassy, Bénédicte Champenois-Rousseau   +1 more
doaj   +1 more source

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman, Alexander Gibbs, Patrick Lombard, Natalie J. Chandler   +6 more
wiley   +1 more source

Multiple pregnancy with complete hydatidiform mole and coexisting normal fetus: systematic review and meta‐analysis of clinical outcomes from non‐randomized studies

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Complete hydatidiform mole and coexisting normal fetus (CHMCF) is a rare condition for which there is significant heterogeneity in diagnosis, counseling and management of complications. The objective of this study was to summarize the prevalence of clinical outcomes in reported cases of CHMCF.
N. Salmeri, A. Pizzetti, E. Grassi, R. Cioffi, G. Mangili, M. Seckl, A. Sotiriadis, M. Candiani, P. I. Cavoretto   +8 more
wiley   +1 more source