Genomic copy-number variants (CNVs) contribute to as many congenital heart disease
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …

Methods Our literature review included all full articles published in English language on the
Cochrane, MedLine, and Embase with references to “single ventricle” and “univentricular …

Objective To evaluate patterns of genetic testing among infants with CHD at a tertiary care
center. Study design We conducted a retrospective observational cohort study of infants in …

Maternal hyperthyroidism is associated with an increased incidence of congenital
abnormalities at birth, but it is not clear which of these defects arise from a transient …

Genetic and genomic technologies can effectively diagnose numerous genetic disorders.
Patients benefit when genetic counselling accompanies genetic testing and international …

Congenital heart defects (CHDs) are most prevalent cardiac defects that occur at birth,
leading to significant neonatal mortality and morbidity, especially in the developing nations …

Cardiovascular malformations (CVM) represent the most common structural anomalies,
occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate …

Background: Congenital heart disease (CHD), the most common heart defect in children,
refers to congenital disease with abnormal development of the heart or large blood vessels …

Background: We aimed to explore the distinctions among four different methods for copy
number variations (CNVs) detection, while also striving to identify the most optimal detection …

Es sabido que en la actualidad las enfermedades con base total o parcialmente genética
constituyen un problema para la salud pública y ocupan en nuestros días un lugar cada vez …