Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Amniocentesis : Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. Informally called an "amnio."
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Amniotic fluid: The fluid bathing the fetus and serving as a shock absorber.
Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Cholesterol: The most common type of steroid in the body, cholesterol has gotten something of a bad name. However, cholesterol is a critically important molecule.
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Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus . Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Fetus: The unborn offspring from the end of the 8th week after conception (when the major structures have formed) until birth. Up until the eighth week, the developing offspring is called an embryo.
Genetic: Having to do with genes and genetic information.
Gynecology: The branch of medicine particularly concerned with the health of the female organs of reproduction and diseases thereof.
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hCG: Human chorionic gonadotropin, a human hormone made by chorionic cells in the fetal part of the placenta . Human chorionic gonadotropin (hCG) is directed at the gonads and stimulates them. Hence, the name "gonadotropin."
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Health: As officially defined by the World Health Organization, a state of complete physical, mental, and social well-being, not merely the absence of disease or infirmity.
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Heart disease: Any disorder that affects the heart. Sometimes the term "heart disease" is used narrowly and incorrectly as a synonym for coronary artery disease. Heart disease is synonymous with cardiac disease but not with cardiovascular disease which is any disease of the heart or blood vessels. Among the many types of heart disease, see, for example: Angina; Arrhythmia; Congenital heart disease; Coronary artery disease (CAD); Dilated cardiomyopathy; Heart attack (myocardial infarction); Heart failure; Hypertrophic cardiomyopathy; Mitral regurgitation; Mitral valve prolapse; and Pulmonary stenosis.
Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Indicate: In medicine, to make a treatment or procedure advisable because of a particular condition or circumstance. For example, certain medications are indicated for the treatment of hypertension during pregnancy while others are contraindicated.
Laboratory: A place for doing tests and research procedures and preparing chemicals, etc. Although "laboratory" looks very like the Latin "laboratorium" (a place to labor, a work place), the word "laboratory" came from the Latin "elaborare" (to work out, as a problem, and with great pains), as evidenced by the Old English spelling "elaboratory" designating "a place where learned effort was applied to the solution of scientific problems."
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Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.
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Marker: A piece of DNA that lies on a chromosome so close to a gene that the marker and the gene are inherited together. A marker is thus an identifiable heritable spot on a chromosome. A marker can be an expressed region of DNA (a gene) or a segment of DNA with no known coding function. All that matters is that the marker can be detected and trailed.
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Mother: (1) The female parent. (2) To produce offspring as a female. To attribute the maternity of. (3) A cell or other structure from which similar cells or structures are formed. Accordingly, such a cell might be referred to as the mother cell.(4) To provide maternal protection, guidance, and nurturing to children.
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Neural: Having to do with nerve cells.
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Neural tube defect (NTD): A major birth defect caused by abnormal development of the neural tube, the structure present during embryonic life which gives rise to the central nervous system -- the brain and spinal cord. Neural tube defects (NTDs) are among the most common birth defects that cause infant mortality (death) and serious disability.
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Normal range: By convention, the normal range for whatever (a particular test, condition, symptom, behavior, etc.) is set to cover ninety-five percent (95%) of all values from the general population. Five percent (5%) of results consequently fall outside the normal range. Values that prove normal can therefore sometimes be outside the normal range.
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Obstetrics: The art and science of managing pregnancy, labor and the puerperium (the time after delivery).
Placenta: A temporary organ joining the mother and fetus, the placenta transfers oxygen and nutrients from the mother to the fetus, and permits the release of carbon dioxide and waste products from the fetus. It is roughly disk-shaped, and at full term measures about seven inches in diameter and a bit less than two inches thick. The upper surface of the placenta is smooth, while the under surface is rough. The placenta is rich in blood vessels.
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Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Pregnant: The state of carrying a developing fetus within the body.
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Prenatal: Occurring or existing before birth.
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Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Range: In medicine and statistics, the difference between the lowest and highest numerical values. For example, if five premature infants are born weighing two, three, four, four, and five pounds respectively, the range of their birth weights is two to five pounds.
Spinal cord: The major column of nerve tissue that is connected to the brain and lies within the vertebral canal and from which the spinal nerves emerge. Thirty-one pairs of spinal nerves originate in the spinal cord: 8 cervical , 12 thoracic , 5 lumbar, 5 sacral, and 1 coccygeal. The spinal cord and the brain constitute the central nervous system ( CNS ). The spinal cord consists of nerve fibers that transmit impulses to and from the brain. Like the brain, the spinal cord is covered by three connective-tissue envelopes called the meninges . The space between the outer and middle envelopes is filled with cerebrospinal fluid ( CSF ), a clear colorless fluid that cushions the spinal cord against jarring shock. Also known simply as the cord.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Type 1 diabetes: See Diabetes, type 1.
Ultrasound : High-frequency sound waves. Ultrasound waves can be bounced off of tissues using special devices. The echoes are then converted into a picture called a sonogram. Ultrasound imaging, referred to as ultrasonography, allows physicians and patients to get an inside view of soft tissues and body cavities, without using invasive techniques. Ultrasound is often used to examine a fetus during pregnancy. There is no convincing evidence for any danger from ultrasound during pregnancy.
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Vein: A blood vessel that carries blood low in oxygen content from the body back to the heart. The deoxygenated form of hemoglobin (deoxyhemoglobin) in venous blood makes it appear dark. Veins are part of the afferent wing of the circulatory system which returns blood to the heart.
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