Results 171 to 180 of about 172,842 (307)

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects. [PDF]

Genome Res
Pittman M, Lee K, Felix F, Huang Y, Lam A, Costa MW, Srivastava D, Pollard KS.   +7 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

CONGENITAL HEART DEFECT IN A PREGNANT WOMAN (CLINICAL CASE)

Мать и дитя в Кузбассе
Currently, there is an increase in patients with congenital heart defects. The number of women with cardiovascular pathology planning and carrying a pregnancy does not decrease.
Елена Валентиновна Гришкевич, Алена Васильевна Иванникова, Елена Николаевна Орлова, Елена Владимировна Рудаева, Светлана Ивановна Елгина, Кира Борисовна Мозес, Елена Германовна Рудаева   +6 more
doaj  

A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects. [PDF]

Nat Cardiovasc Res
Kathiriya IS, Dominguez MH, Rao KS, Muncie-Vasic JM, Devine WP, Hu KM, Hota SK, Garay BI, Quintero D, Goyal P, Matthews MN, Thomas R, Sukonnik T, Miguel-Perez D, Winchester S, Brower EF, Forjaz A, Wu PH, Wirtz D, Kiemen AL, Bruneau BG.   +20 more
europepmc   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Hybrid approach: a prospective option for treating congenital heart defects in pediatric patients. [PDF]

Front Cardiovasc Med
Marassulov S, Lookin O, Nurkeyev B, Kerimkulov A, Murzabayeva S, Tuyakbayev B, Dochshanova R, Maiorov R, Akhmoldayeva A, Kuandykova E, Aldabergenov Y, Raimkhanov T, Adilbekova A.   +12 more
europepmc   +1 more source

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

Cognitive disengagement syndrome and peer relationships of youth with critical congenital heart defects. [PDF]

Child Neuropsychol
Ritchey OG, Darow EL, Riggs AT, Goard A, Jackson JL, Mah ML, Taylor HG, Kirkpatrick K, Vannatta K.   +8 more
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source