Results 71 to 80 of about 14,608 (291)

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

open access: yesPrenatal 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   +17 more
wiley   +1 more source

Epidemiology of gastroschisis: A population-based study in California from 1995 to 2012. [PDF]

open access: yes, 2018
BackgroundAlthough the incidence of gastroschisis is increasing, risk factors are not clearly identified.MethodsUsing the Linked Birth Database from the California Office of Statewide Health Planning and Development from 1995 to 2012, patients with ...
Anderson, Jamie E   +6 more
core  

Pattern and Factors Associated with Congenital Anomalies among Young Infants Admitted at Bugando Medical Centre, Mwanza, Tanzania. [PDF]

open access: yes, 2014
Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited ...
Chalya, Phillipo L   +4 more
core   +1 more source

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

open access: yesPrenatal 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   +7 more
wiley   +1 more source

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf   +7 more
wiley   +1 more source

Arterial hypertension after surgical closure of omphalocele and gastroschisis [PDF]

open access: yes, 2018
Arterial hypertension has been reported as a complication of surgical closure of an abdominal wall defect. No report studying the incidence, the characteristics and the clinical significance of hypertension after surgical correction of an omphalocele or ...
Cachat, François   +4 more
core  

Preferential associated anomalies in 818 cases of microtia in South america [PDF]

open access: yes, 2013
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique   +5 more
core   +3 more sources

Superior vesical fissure concealed by giant omphalocele: A case report

open access: yesJournal of Pediatric Surgery Case Reports, 2016
Omphalocele is an abdominal wall defect characterized by exteriorization of abdominal viscera that is covered by a membrane. Omphalocele has a well-known association with chromosome abnormalities. Here we present a case of a superior vesical fissure (SVF)
Danial Hayek   +4 more
doaj   +1 more source

Maternal Exposure to Sulfur Dioxide and Risk of Omphalocele in Liaoning Province, China: A Population-Based Case-Control Study

open access: yesFrontiers in Public Health, 2022
Evidence of the association between maternal sulfur dioxide (SO2) exposure and the risk of omphalocele is limited and equivocal. We aimed to assess the aforementioned topic during the first trimester of pregnancy.
Li-Li Li   +7 more
doaj   +1 more source

Dietary supplementation with Bifidobacterium longum subsp. infantis (B. infantis) in healthy breastfed infants: study protocol for a randomised controlled trial. [PDF]

open access: yes, 2016
BackgroundThe development of probiotics as therapies to cure or prevent disease lags far behind that of other investigational medications. Rigorously designed phase I clinical trials are nearly non-existent in the field of probiotic research, which is a ...
Armstrong, April W   +10 more
core   +1 more source

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