Prenatal testingPrenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable.
EndocarditisEndocarditis is an inflammation of the inner layer of the heart, the endocardium. It usually involves the heart valves. Other structures that may be involved include the interventricular septum, the chordae tendineae, the mural endocardium, or the surfaces of intracardiac devices. Endocarditis is characterized by lesions, known as vegetations, which is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells.
Ebstein's anomalyEbstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. It is classified as a critical congenital heart defect accounting for less than 1% of all congenital heart defects presenting in around 1 per 200,000 live births. Ebstein's anomaly usually presents with a systolic murmur (sometimes diastolic) and frequently with a gallop rhythm. The annulus of the valve is still in the normal position.
Pulmonary atresiaPulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery. In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close.
Interventricular septumThe interventricular septum (IVS, or ventricular septum, or during development septum inferius) is the stout wall separating the ventricles, the lower chambers of the heart, from one another. The ventricular septum is directed obliquely backward to the right and curved with the convexity toward the right ventricle; its margins correspond with the anterior and posterior interventricular sulci. The lower part of the septum, which is the major part, is thick and muscular, and its much smaller upper part is thin and membraneous.
Levo-Transposition of the great arteriesLevo-Transposition of the great arteries is an acyanotic congenital heart defect in which the primary arteries (the aorta and the pulmonary artery) are transposed, with the aorta anterior and to the left of the pulmonary artery; the morphological left and right ventricles with their corresponding atrioventricular valves are also transposed. Use of the term "corrected" has been disputed by many due to the frequent occurrence of other abnormalities and or acquired disorders in l-TGA patients.
Pulmonic stenosisPulmonic stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood. Pulmonic stenosis is usually due to isolated valvular obstruction (pulmonary valve stenosis), but it may be due to subvalvular or supravalvular obstruction, such as infundibular stenosis. It may occur in association with other congenital heart defects as part of more complicated syndromes (for example, tetralogy of Fallot).
Comparative genomic hybridizationComparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome).
StenosisA stenosis (from Ancient Greek στενός, "narrow") is an abnormal narrowing in a blood vessel or other tubular organ or structure such as foramina and canals. It is also sometimes called a stricture (as in urethral stricture). Stricture as a term is usually used when narrowing is caused by contraction of smooth muscle (e.g. achalasia, prinzmetal angina); stenosis is usually used when narrowing is caused by lesion that reduces the space of lumen (e.g. atherosclerosis).
MicrocephalyMicrocephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
