Williams Syndrome : Tests
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Tests could include:
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Ultrasound of kidney
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Signs include: Blood vessel narrowing including supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis; Farsightedness; High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles; High blood pressu...
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The diagnosis of Williams syndrome is usually made by a physician familiar with Williams syndrome and based upon a physical examination of the individual and a review of his or her medical history. It is often made in infants after a heart problem...
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Because of the variability in the way that Williams syndrome affects different people, it often goes undiagnosed for many years. Although there is a chromosome deletion in over 98% of children born with Williams syndrome, the deletions are so smal...
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The diagnosis of Williams syndrome is usually made by a physician familiar with Williams syndrome and based upon a physical examination of the individual and a review of his or her medical history. It is often made in infants after a heart problem...
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Amniocentesis is a diagnostic procedure performed by inserting a hollow needle through the abdominal wall into the uterus and withdrawing a small amount of fluid from the sac surrounding the fetus.
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy . A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman ' s abdomen using a needle and syringe.
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First, the fetus is located with ultrasound. A thin needle is then inserted into your belly. The doctor keeps the needle from touching the fetus by watching the screen.
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Amniocentesis is an optional procedure offered to women during pregnancy in order to obtain more information about a developing fetus. A doctor uses a thin, hollow needle to remove a small sample of amniotic fluid from around the developing baby.
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Amniocentesis is an optional procedure offered to women during pregnancy in order to obtain more information about a developing fetus. A doctor uses a thin, hollow needle to remove a small sample of amniotic fluid from around the developing baby.
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman ' s abdomen using a needle and syringe.
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Amniocentesis is an optional but reliable procedure offered to pregnant women in order to obtain more information about a developing fetus in the second trimester of pregnancy . It is primarily offered to pregnant women who are at increased risk, based on their age, family history, or other factor, of having a child with a genetic condition.
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman ' s abdomen using a needle and syringe.
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A medical test that involves withdrawing a sample of fluid from the amniotic sac surrounding the fetus in the abdomen of the pregnant woman. Amniocentesis is a procedure used to detect the presence of genetic disorders such as Down syndrome and spina bifida in a fetus.
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Detailed information on amniocentesis, including potential risks and benefits
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Echocardiogram is a test that uses sound waves to create a moving picture of the heart. The picture is much more detailed than x-ray image and involves no radiation exposure.
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Echocardiography is a diagnostic test that uses ultrasound waves to create an image of the heart muscle. Ultrasound waves that rebound or echo off the heart can show the size, shape, and movement of the heart ' s valves and chambers as well as the flow of blood through the heart.
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An echocardiogram (echo) is an imaging test. It helps your doctor evaluate your heart. Here is how it works.
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Detailed information on a echocardiography (echo) procedure, including how the procedure is performed, reasons for the procedure, and pre- and post-evaluation instructions
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Detailed information on echocardiography, including types and how the procedure is performed
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Echocardiography is a diagnostic test that uses ultrasound waves to produce an image of the heart muscle and the heart ' s valves. Purpose Echocardiography is used to diagnose certain cardiovascular diseases, and is one of the most widely used diagnostic tests for heart disease.
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Chorionic villus sampling (CVS) is a procedure for taking a small piece of placental tissue (chorionic villi) from the uterus in the early stages of pregnancy to check for the presence of genetic defects in the fetus.
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Chorionic villus sampling (CVS) is a prenatal procedure for the removal by needle of chorionic villi and culture and examination of the fetal cells obtained. The cells are used in tests for genetic and chromosomal abnormalities of a fetus as early as 10 to 12 weeks of gestation.
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Detailed information on chorionic villus sampling, including potential risks and benefits
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CVS is a test that helps you learn if a fetus has health problems. The test is most often done between weeks 9 and 11 of pregnancy.
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Chorionic villus sampling (CVS), also known as chorionic villus biopsy, is a prenatal test that can detect genetic and chromosomal abnormalities of an unborn baby. Purpose Chorionic villus sampling is performed on pregnant women who are at risk for carrying a fetus with a genetic or chromosomal defect.
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A genetic test examines the genetic information contained inside a person ' s cells, called DNA , to determine if that person has or will develop a certain disease or could pass a disease to his or her offspring. Genetic tests also determine whether or not couples are at a higher risk than the general population for having a child affected with a genetic disorder.
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An organic substance that encodes and carries genetic information and is the fundamental element of heredity. The thousands of genes that make up each chromosome are composed of deoxyribonucleic acid (DNA), which consists of a five-carbon sugar (deoxyribose), phosphate, and four types of nitrogen-containing molecules (adenine, guanine, cytosine, and thymine).
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Fluorescent in situ hybridization (FISH) is a powerful technique used to identify the presence of specific chromosomes or parts of chromosomes through the attachment (hybridization) of fluorescent DNA probes to available chromosomal DNA. The fluorescent DNA sequence used to attach to the cellular DNA is called the probe and is created in the experimental laboratory.
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Detailed information on what type of testing is available to determine whether a child has a genetic birth defect
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During a physical examination, a health care provider studies a patient's body to determine the presence or absence of physical problems. A typical physical examination includes: Inspection (looking at the body) Palpation (feeling the body with hands) Auscultation (listening to sounds) Percussion (producing sounds)
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Serum calcium is a blood test to measure the amount of calcium in the blood. Serum calcium is usually measured to screen for or monitor bone diseases or calcium-regulation disorders (diseases of the parathyroid gland or kidneys).
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