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achondroplasia |
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- Achondroplasia is an inherited disorder that causes short stature. |
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amniocentesis |
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- This test, performed upon a sample of the fluid surrounding the foetus in the uterus (the "amniotic fluid"), is designed to detect a number of disorders of the foetus. |
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chromosome analysis |
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- Chromosome analysis involves looking at cells under a microscope to see if the chromosomes are normal. |
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Coombs' test, direct |
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- The direct Coombs' test detects antibodies, which are proteins that react against other molecules, on the surface of an individual's red blood cells. |
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chorionic villus sampling |
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- Chorionic villus sampling, or CVS, is a procedure in which a small piece of tissue is taken from the chorionic villi early in pregnancy. The chorionic villi are lacy fibrils that attach the sac holding the foetus to the uterine wall. These fibrils have the same genetic and biochemical makeup as the foetus. |
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DNA testing |
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- DNA testing is a type of genetic test that looks for changes in the DNA molecule. The changes, called mutations, may be associated with genetic diseases. Diseases such as the inborn errors of metabolism are diagnosed this way. The changes may also be variations in the DNA molecule that occur between the genes. These changes don't cause disease, and are sometimes called innocent changes. Identifying them can be useful for such things as paternity testing. |
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ELISA |
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- ELISA is test that is usually done on a sample of blood. This test may be used for various purposes. The test detects the presence of either antigens or antibodies in the blood. An antigen is a protein found in a substance in the body, such as a bacteria or piece of a protein. An antibody is a protein formed by the body in response to an antigen. Specific antigens "stick" to the specific antibodies that are created in response to them. Not all proteins in the body cause antibodies to be made. The proteins that do are possible candidates for an ELISA test. |
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genetic screening |
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- Genetic screening is the process of looking for indications of a genetic disease. A genetic disease is a condition that is passed down from a parent to his or her offspring. Genetic screening is usually done before any signs of disease are present. The procedure is undertaken for several reasons. It may be done to determine if someone will develop a genetic disease. Examples of common genetic disorders are: Turner syndrome Down syndrome Klinefelter syndrome Tourette syndrome coeliac disease Wilson disease Huntington disease Duchenne muscular dystrophy Tay-Sachs disease haemachromatosis cystic fibrosis thallasaemiaGenetic screening is sometimes done to determine if a person can pass on a genetic disease, even if he or she is not at risk for developing the actual condition. It also may be done as part of a study of the whole population. |
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genetic testing |
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- Through genetic testing, doctors look for the known cause of a specific disease in someone who already has the symptoms. Laboratory studies can determine whether someone has a genetic disease. Genetic screening, on the other hand, is a more general search for inherited problems, to see if any exist. Genes are inherited building blocks that determine a person's physical traits such as height or eye colour. A defect in a gene can cause inherited diseases. |
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haemoglobin |
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- Haemoglobin is a protein in red blood cells. It carries oxygen from the lungs to cells throughout the body, and carries carbon dioxide from the cells to the lungs. A haemoglobin test measures the level of this protein in a sample of blood. |
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endometrial biopsy |
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laparoscopy in the female |
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hydrocephalus in children |
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- Hydrocephalus is a condition involving the abnormal accumulation of cerebrospinal fluid in and around the brain. |
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identity testing |
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- Identity testing is a method used to determine biological relationships, including sisters, brothers, and grandparents. It is most often used to establish the identity of a person's biological father, a process known as paternity testing. |
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gestational age determination |
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Rh incompatibility |
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inborn errors of metabolism |
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urine pregnancy test |
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rubella |
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cord blood tests |
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intrauterine growth retardation |
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pregnancy |
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placental insufficiency |
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pelvic examination |
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- During a pelvic examination, a doctor checks a woman's outer and inner genitals for any abnormalities. |
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placenta abruptio |
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pregnancy ultrasound |
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second trimester of pregnancy |
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serum pregnancy test |
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stillbirth |
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third trimester of pregnancy |
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TORCH screen |
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vaginal bleeding in pregnancy |
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transposition of the great arteries |
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ventricular septal defect |
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toxoplasma test |
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antibody titre |
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- This test detects and measures the amount of antibodies in the blood. Antibodies are proteins made by the immune system. These antibodies are made to attack a real or imagined threat. For example, antibodies may be made in some cases to attack bacteria causing an infection. In other cases, however, antibodies may be made to attack a person's own body. |
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