Term
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Definition
| Self-originating or without any known cause. |
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Term
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Definition
| Study of the cause of any disease or the theory of its origin. |
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Term
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Definition
| Changes in body function felt by the patient. |
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Definition
| Changes in body functions observed by others. |
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Definition
| Characteristic group of signs and symptoms that make up a disease. |
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Definition
| Refers to the fundamental structure or form of cellular tissues. |
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Term
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Definition
| Deals with the functions of the body. |
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Term
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Definition
| New or separate process; may arise secondarily to changes produced by the original disease or outcomes resulting from the treatment of the disease. |
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Term
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Definition
| Condition in which there is a decrease in RBC, WBC, and platelets. |
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Term
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Definition
| The sequence of events from the time of contact to the expression of a disease; mechanism of development of a disease. |
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Term
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Definition
| Deals with the study of the structural and functional changes in cells, tissues, and organs of the body that cause or are caused by disease. |
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Term
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Definition
| Self-originating or without any known cause. |
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Term
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Definition
| Refers to the presence of multiple genotypes within an individual. |
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Term
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Definition
| The synchronization of medications with biological rhythms to opptimize treatment outcomes and minimize side effects. |
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Term
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Definition
| Outcome of the disease; lesions or impairments that follow or are actually caused by the disease. |
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Term
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Definition
| Autosomal recessive gene; most common lethal single gene defect; 1:2500 white births in US; altered electrolyte transport of chloride ion across epithelial cell membrane; defect in CFTR; exocrine disorder |
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Term
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Definition
| The study of the cells and extracellular matrix of tissues. |
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Term
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Definition
| Genes that have more than one normal allele at the same locus. |
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Term
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Definition
| Adverse condition in a patient induced by treatment. |
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Term
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Definition
| A decrease in the number of circulating platelets to a level less than 100,000/mL. |
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Term
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Definition
| A feedback system that produces a response in the opposite direction. |
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Term
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Definition
| Conditions that exist at birth. |
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Term
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Definition
| A feedback system that produces a response in the same direction. |
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Term
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Definition
| The expression of ones genotype. |
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Term
| Familial Hypercholesterolemia |
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Definition
| Autosomal dominant disorder; chromosome 19; most common of all Mendelian disorders; frequency of heterozygotes is 1:500 in general population; lack of LDL surface receptor |
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Term
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Definition
| Condition in which there is no corresponding allele. |
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Term
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Definition
| Defects caused by events that occur after birth. |
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Term
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Definition
| Increase in the severity of a disease or any of its signs or symptoms. |
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Term
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Definition
| Factors that predispose or contribute to the development of a particular disease. |
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Term
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Definition
| When a cell contains an abnormal number of chromosomes. |
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Term
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Definition
| The genetic makeup of an individual. |
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Term
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Definition
| Deals with the physiology of altered health; study of disordered function. |
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Term
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Definition
Syndrome characterized by a sex chromosome addition. 1/500-1000 live births. Phenotypical male, sterile, sparse body hair, gynecomastia, tall.
(47,XXY) |
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Term
| Autosomal Recessive Genes |
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Definition
| Inborn errors of metabolism; gene either does not function or produces a crippled form of protein (enzyme) |
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Term
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Definition
Trisomy 21 - most common live birth. 1/650-700 births. Over 200 physical abnormalities, mental retardation, short stature, hypottonia, Simian crease, very loving/affectionate. Most commonly occurs due to nondisjunction but translocation (3% of cases) can be inherited.
(47XY+21) |
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Term
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Definition
| Identification of individual chromosomes prepared by slides during metaphase. |
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Term
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Definition
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Term
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Definition
Syndrome caused by deletion of a sex chromosome. Phenotypical female, sterile, short stature, webbed neck. 1/2500 newborn females.
(45,XO) |
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Term
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Definition
| Syndrome characterized by carniofacial signs (narrow upper lip, small chin, shortened palpebral fissures, absence of ridges between nose and upper lip); small for gestational age; CNS abnormalities |
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Term
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Definition
| A pathologic or traumatic discontinuity of a body organ or tissue. |
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Term
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Definition
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Term
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Definition
| Autosomal recessive gene; problem at chromosome 12; 1/14,000 births; phenylalanine hydroxylase deficiency which leads to accumulation of phenylalanine. |
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Term
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Definition
| Maintenance of constant conditions in the internal environment. |
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Term
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Definition
| Developmental defects arising during the embryonic period development. |
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Term
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Definition
| Gradual and subtle development. |
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Term
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Definition
Deletion of part of the 5th chromosome. Typically characterized by cardiovascular abnormalities (50%) and mental and growth retardation (IQ ~ 20). 1/50,000 live births.
(5p-) |
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Term
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Definition
| Disease caused by multiple genes; multifactorial (cooperation of many genes and environmental risk factors); pattern of disease cannot be predicted. |
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Term
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Definition
| The study of how inherited genetic differences can influence the individual responses to drugs and may help to individualize drug therapy in the future. |
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Term
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Definition
| Refers to the percentage of individuals with a specific genotype who also exhibit the expected phenotype. |
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Term
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Definition
| A tiny, perfectly round, purplish red spot that appears on the skin as a result of minute intradermal or submucous hemorrhage. |
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Term
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Definition
| 3 copies of a chromosome. |
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Term
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Definition
| An abnormally high total RBC mass with a hematocrit greater than 50%. |
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Term
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Definition
| An abnormally low number of circulating red blood cells or level of hemoglobin, or both. |
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Term
| The most useful yardstick of health is the ability of an organism to _______ to the external environment to maintain homeostasis. |
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Definition
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Term
| Name three requirements of a feedback system. |
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Definition
1. Sensor
2. Integrator
3. Effector System |
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Term
| Name four effector systems. |
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Definition
1. Sudomotor
2. Vasomotor
3. Metabolic
4. Behavioral |
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Term
| What % of population is considered normal? |
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Definition
| Top 95th percentile; those within 2 SD of a population. |
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Term
| What is considered normal for serum sodium levels? |
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Definition
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Term
| What is considered normal for serum potassium levels? |
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Definition
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Term
| What is considered a normal serum level of hemoglobin concentration? |
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Definition
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Term
| What are four sources of variation? |
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Definition
1. Genetics
2. Life History
3. Measurement of variable
4. Biological Rhythm |
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Term
| Strokes and heart attacks occur most frequently in which time period? |
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Definition
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Term
| Name one function of a B-blocker. |
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Definition
| Blocks sympathetics in the heart to decrease the heart rate. |
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Term
| What is a sub-clinical stage of a disease? |
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Definition
| Stage where the patient appears to function normally even though the disease is established. |
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Term
| What are the five most prominent sets of patterns/changes in disease over the past 100 years? |
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Definition
1. Decline of infectious disease
2. Rise of degenerative ailments.
3. De Novo diseases (AIDS, SARS)
4. Reemergence of old diseases.
5. Transmuted diseases |
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Term
| What is the typical lifespan of erythrocytes? |
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Definition
120 days
*Includes reticulocytes (immature RBC's) |
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Term
| What is the typical lifespan of leukocytes? |
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Definition
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Term
| What is the typical lifespan of platelets? |
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Definition
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Term
| What is a normal hematocrit for a male and female? |
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Definition
Male: 42-52%
Female: 37-48% |
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Term
| There are over _____ genetic diseases known today. |
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Definition
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Term
| Aneuploidy is a result of ______. |
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Definition
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Term
| Single gene defects are __-__% of all live births. |
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Definition
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Term
| Familial hypercholesterolemia heterozygotes have typical serum cholesterol levels of _____. |
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Definition
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Term
| Familial hypercholesterolemia homozygotes have typical serum cholesterol levels of _____. |
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Definition
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Term
| Hemophilia, color blindness, fragile X syndrome, and some forms of muscular dystrophy are all ______. |
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Definition
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Term
| Organogenesis occurs during the __-__ weeks after conception. |
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Definition
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Term
| What does TORCH stand for? |
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Definition
| toxoplasmosis, other, rubella, cytomegalovirus, herpes |
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Term
| What is the mode of action for Thalidomide? |
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Definition
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Term
| What is the proper daily dosage of folic acid to take for women? |
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Definition
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Term
| Name three clinical signs/syndromes associated with fetal alcohol syndrome. |
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Definition
1. Craniofacial
2. Short (height, weight)
3. CNS abnormalities |
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Term
| What are the two most common disorders that can be detected during pregnancy? |
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Definition
| Down Syndrome and NTD (neural tube defects) |
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Term
| Name four sources of folic acid. |
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Definition
1. Dark green, leafy vegetables
2. Whole wheat bread
3. Oranges/Grapefruits
4. Lightly cooked beans/peas |
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Term
| What is an indication of a neural tube defect? |
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Definition
| a-FP 4-5 standard deviations above mean |
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Term
| What is a triple screen test and when is it performed? |
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Definition
Performed 16-20 weeks after gestation.
Tests for a-FP, HCG, and unconjugated estriol |
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Term
| When does a-FP peak in maternal blood? |
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Definition
| 32 weeks (14-16 weeks in fetus) |
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Term
| What does high and low levels of a-FP typically indicate? |
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Definition
High: neural tube defects
Low: Trisomy 21 |
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Term
| What does low unconjugated estriol typically indicate? |
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Definition
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Term
| What does high HCG levels typically indicate in a triple screen? |
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Definition
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Term
| When is amniocentesis performed? |
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Definition
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Term
| Name 5 indications for amniocentesis. |
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Definition
1. >35 years old
2. Previous child has a cytogenic, CTD
3. Abnormal ultrasound
4. X-linked carrier
5. Heterozygote parent of autosomal recessive disorder |
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Term
| Name 4 things that an amniocentesis can detect. |
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Definition
1. Cytogenic disorders
2. X-linked disorders
3. NTD (measurement of a-FP)
4. Inborn errors of metabolism |
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Term
| When should PUBS (percutaneous umbilical blood sampling be conducted)? |
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Definition
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Term
| When should CVS (chorionic villi sampling) be performed? |
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Definition
| ~8-12th week (1st trimester only) |
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