The following are health and medical definitions of terms that appear in the Amniocentesis article.
Abdominal: Relating to the abdomen, the belly, that part of the body that contains all of the structures between the chest and the pelvis. The abdomen is separated anatomically from the chest by the diaphragm, the powerful muscle spanning the body cavity below the lungs. See the entire definition of Abdominal
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).
Amniocentesis: Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. Informally called an "amnio."
Amniotic fluid: The fluid bathing the fetus and serving as a shock absorber.
Amniotic sac: Popularly and more commonly known as the bag of waters. See: Bag of waters.
Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. See the entire definition of Anemia
Anesthetic: A substance that causes lack of feeling or awareness. A local anesthetic causes loss of feeling in a part of the body. A general anesthetic puts the person to sleep.
Aneuploidy: One or a few chromosomes above or below the normal chromosome number. For example, three number 21 chromosomes or trisomy 21 (characteristic of Down syndrome) is a form of aneuploidy.
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. See the entire definition of Birth defect
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."
Breathing: The process of respiration, during which air is inhaled into the lungs through the mouth or nose due to muscle contraction, and then exhaled due to muscle relaxation.
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods. See the entire definition of Chromosomes
Cleft lip: The presence of one or two vertical fissures (clefts) in the upper lip -- cleft lip can be on one side only (unilateral) or on both sides (bilateral) -- resulting from failure of the normal process of fusion of the lip to come to completion during embryonic life. See the entire definition of Cleft lip
Cystic fibrosis: One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. See the entire definition of Cystic fibrosis
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). See the entire definition of Diabetes
Due date: The estimated calendar date when a baby will be born, the date the baby is due to be born. It is also called the estimated date of confinement (EDC).
Family history: The family structure and relationships within the family, including information about diseases in family members. See the entire definition of Family history
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.
Fever: Although a fever technically is any body temperature above the normal of 98.6 degrees F. (37 degrees C.), in practice a person is usually not considered to have a significant fever until the temperature is above 100.4 degrees F (38 degrees C.). See the entire definition of Fever
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions. See the entire definition of Genetic counseling
Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.
Hernia: A general term referring to a protrusion of a tissue through the wall of the cavity in which it is normally contained. See the entire definition of Hernia
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.
Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person. See the entire definition of Infection
Intrauterine: In the uterus (the womb). As opposed to extrauterine: outside the uterus. See the entire definition of Intrauterine
Labor: Childbirth, the aptly-named experience of delivering the baby and placenta from the uterus to the vagina to the outside world. There are two stages of labor. During the first stage (called the stage of dilatation), the cervix dilates fully to a diameter of about 10 cm. In the second stage (called the stage of expulsion), the baby moves out through the cervix and vagina to be born. See the entire definition of Labor
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."
Lungs: The lungs are a pair of breathing organs located with the chest which remove carbon dioxide from and bring oxygen to the blood. There is a right and left lung.
Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation. See the entire definition of Mental retardation
Miscarriage: Inadvertent loss of a pregnancy before the fetus is viable. A considerable proportion of pregnancies end in a miscarriage. Also called a spontaneous abortion.
Neural: Having to do with nerve cells.
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. See the entire definition of Pregnancy
Pregnant: The state of carrying a developing fetus within the body. See the entire definition of Pregnant
Premature baby: A baby born before 37 weeks of gestation have passed. Historically, the definition of prematurity was 2500 grams (about 5 1/2 pounds) or less at birth. The current World Health Organization definition of prematurity is a baby born before 37 weeks of gestation, counting from the first day of the Last Menstrual Period (the LMP). See the entire definition of Premature baby
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. See the entire definition of Protein
Proteins: Large molecules 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. See the entire definition of Proteins
Sickle cell anemia: A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest areas of the body. See the entire definition of Sickle cell anemia
Spina bifida: A birth defect (a congenital malformation) in which there is a bony defect in the vertebral column so that part of the spinal cord, which is normally protected within the vertebral column, is exposed. People with spina bifida can suffer from bladder and bowel incontinence, cognitive (learning) problems and limited mobility. See the entire definition of Spina bifida
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. See the entire definition of Spinal cord
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. See the entire definition of Syndrome
Syringe: A device used in medicine to inject fluid into or withdraw fluid from the body. Medical syringes consist of a needle attached to a hollow cylinder that is fitted with a sliding plunger. The downward movement of the plunger injects fluid; upward movement withdraws fluid. See the entire definition of Syringe
Tay-Sachs disease: A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. Abbreviated TSD. See the entire definition of Tay-Sachs disease
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.
Urine: Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery) solution of salt (sodium chloride) and substances called urea and uric acid. Normally, it contains about 960 parts of water to 40 parts of solid matter. Abnormally, it may contain sugar (in diabetes), albumen (a protein) (as in some forms of kidney disease), bile pigments (as in jaundice), or abnormal quantities of one or another of its normal components.
Uterus: The uterus (womb) is a hollow, pear-shaped organ located in a woman's lower abdomen between the bladder and the rectum. The narrow, lower portion of the uterus is the cervix; the broader, upper part is the corpus. The corpus is made up of two layers of tissue.
Vagina: The muscular canal extending from the cervix to the outside of the body. It is usually six to seven inches in length, and its walls are lined with mucus membrane. It includes two vaultlike structures, the anterior (front) vaginal fornix and the posterior (rear) vaginal fornix. The cervix protrudes slightly into the vagina, and it is through a tiny hole in the cervix (the os) that sperm make their way toward the internal reproductive organs. The vagina also includes numerous tiny glands that make vaginal secretions. See the entire definition of Vagina
There are many symptoms involved in the 1st, 2nd and 3rd trimesters of pregnancy. The first early pregnancy symptom is typically a missed period, but others include breast swelling and tenderness, nausea and sometimes vomiting, fatigue and bloating. Second trimester symptoms include backache, weight gain, itching, and possible stretch marks. Third trimester symptoms are additional weight gain, heartburn, hemorrhoids, swelling of the ankles, fingers, and face, breast tenderness, and trouble sleeping. Read more to learn about recommended procedures and tests for each stage of a healthy pregnancy.
Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Infertility is the diminished ability to conceive a child. The primary cause of infertility in men is a sperm disorder. In women, the primary cause of infertility is an ovulation disorder. Most forms of infertility can be treated. Conventional infertility therapies include drugs or surgery.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spina bifida the person suffers.
Cleft palate and cleft lip are facial and oral defects that occur early in pregnancy. A cleft lip is a split of the two sides of the upper lip, and a cleft palate is a split in the roof of the mouth. Cleft lip the fourth most common birth defect in the U.S. Repair of a cleft palate or cleft lip may require multiple surgeries.
There are a number of different methods of birth control to include: barrier methods, IUDs, hormonal methods, natural methods, and surgical sterilization. Birth control methods can be reversible or permanent. In simple terms, all methods of birth control are based on either preventing a man's sperm from reaching and entering a woman's egg (fertilization) or preventing the fertilized egg from implanting in the woman's uterus (her womb) and starting to grow.
Gestational diabetes is a condition that is first recognized during pregnancy and is characterized by high blood sugar. Approximately 4% of all pregnancies are diagnosed with gestational diabetes. Low blood sugar is prevented by hormones produced by the placenta during a woman's pregnancy. The actions of insulin are stopped by these hormones. Gestational diabetes is the result of the pancreas' s inability to produce enough insulin to overcome the effect of the increase hormones during pregnancy.
Hemophilia is one of a group of inherited bleeding disorders. Hemophilia A and B are inherited in an X-linked recessive genetic pattern and is more common in males. Symptoms of hemophilia include bleeding into the joints, muscles, GI or urinary tract, or brain or skull. Treatments for hemophilia is generally replacement of blood clotting factors.
Taking prescription medications or over-the-counter drugs or supplements should be discussed with your doctor. There are some medications that have been found to cause no problems in pregnancy, however, medications such as Accutane for acne, should never be taken during pregnancy.
Pregnancy can bring challenges like weight gain, stretch marks, varicose veins, heartburn, constipation, hemorrhoids, problems sleeping, and wondering if it is safe to have sex while pregnant. Learn how to manage and move through these challenges during pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
There are many syndromes and defects that may cause urine blockage in newborns. Defects in the urinary tract that may cause urine blockage include vesicoureteral reflux, ureteropelvic junction obstruction, bladder outlet obstruction, posterior urethral valves, nerve disease, and ureterocele. Syndromes that may cause urinary blockage include congenital heart defects, esophageal atresia, and prune belly syndrome. Treatment for urine blockage in newborns depends on the cause of the blockage.
Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited
abnormal hemoglobin (an oxygen-carrying protein within the red blood
cells). The abnormal hemoglobin causes distorted (sickled) red blood
cells. The sickled red blood cells are fragile and prone to rupture.
When the number of red blood cells decreases from rupture
(hemolysis), anemia is the result. This condition is referred to as
sickle cell anemia. The irregular sickled cells can also block blood
vessels causing tissue and organ damage and pain.
Sickle cell anemia is one of the most common inherited blood
anemias. The disease primarily affects Africans and
African Americans. It is estimated that in the United States, some 50,000
African Americans are afflicted with the most severe form of sickle cell anemia.
Overall, current estimates are that one in 1,875 U.S. African American is
affected with sickle cell anemia./...
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