Results 171 to 180 of about 159,275 (311)

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

Gerbode-ish Defect: A Congenital Left Ventricular-to-Right Atrium Shunt. [PDF]

JACC Case Rep
Speiser NJ, Wiggins L, Uzunyan M.
europepmc   +1 more source

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

Importance of micronutrient supplementation in children with congenital heart defects inNigeria

Nigerian Journal of Paediatrics
The prevalence of congenital heart defects is increasing globally. Improvements in surgical techniques have resulted in increased life expectancy for individuals with heart defects.
Onalo R
doaj  

Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature

Prenatal Diagnosis, EarlyView.
ABSTRACT This systematic review collated data from neurosonography and ultrasound evaluations to assess changes in the cortical development of fetuses with congenital heart disease (CHD). Of the 135 articles identified by two independent reviewers, five that satisfied our inclusion criteria were selected.
Marcelo Dantas Cerqueira Monteiro, Thatiane Lopes Valentim Di Paschoale Ostholin, Miriam Pérez‐Cruz, Luana Sarmento Neves da Rocha   +3 more
wiley   +1 more source

Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco? [PDF]

Cureus
Babakhouya A, Yechouti C, Salhi C, Elouali A, Rkain M.   +4 more
europepmc   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +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

A retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia. [PDF]

BMC Cardiovasc Disord
Nyang M, Makalo L, Adegoke SA.
europepmc   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, EarlyView.
A George
wiley   +1 more source