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Amniocentesis
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic abnormalities. An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. Women who choose to have this test are prima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniocentesis Tubes
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the Gold standard (test), gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The amniotic fluid is Sampling (medicine), sampled and analyzed via methods such as Karyotype, karyotyping and DNA analysis technology for genetic abnormalities. An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prenatal Diagnosis
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tole ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphylococcus aureus''. CF is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include Shortness of breath, difficulty breathing and coughing up mucus as a result of frequent pneumonia, lung infections. Other signs and symptoms may include Sinusitis, sinus infections, failure to thrive, poor growth, Steatorrhea, fatty stool, Nail clubbing, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies (alleles) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemophilia
Haemophilia (British English), or hemophilia (American English) (), is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or an altered level of consciousness. There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX. They are typically inherited from one's parents through an X chromosome carrying a nonfunctional gene. Most commonly found in men, haemophilia can affect women too, though very rarely. A woman wo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chorionic Villus Sampling
Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks. CVS was performed for the first time in Milan by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983. Use as early as eight weeks in special circumstances has been described. It can be performed in a transcervical or transabdominal manner. Although this procedure is mostly associated with testing for Down syndrome, overall, CVS can detect more than 200 disorders. Indications ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniotic Fluid
The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid amniote. This fluid serves as a cushion for the growing fetus, but also serves to facilitate the exchange of nutrients, water, and biochemical products between mother and fetus. Colloquially, the amniotic fluid is commonly called water or waters (Latin liquor amnii). Development Amniotic fluid is present from the formation of the gestational sac. Amniotic fluid is in the amniotic sac. It is generated from maternal plasma, and passes through the fetal membranes by osmotic and hydrostatic forces. When fetal kidneys begin to function around week 16, fetal urine also contributes to the fluid. In earlier times, it was believed that the amniotic fluid was composed entirely of excreted fetal urine. The fluid is absorbed through the fetal tissue and skin. After 22 to 25 week of pregnancy, keratinization of an embryo's skin occurs. When this process completes around the 25th week, the fluid is pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sampling (medicine)
In medicine, sampling is gathering of matter from the body to aid in the process of a medical diagnosis and/or evaluation of an indication (medicine), indication for treatment, further medical tests or other procedures. In this sense, the sample is the gathered matter, and the sampling tool or sampler is the person or material to collect the sample. Sampling is a prerequisite for many medical tests, but generally not for medical history, physical examination and radiologic tests. By sampling technique * Obtaining excretions or materials that leave the body anyway, such as urine, Feces, stool, sputum, or vomitus, by direct collection as they exit. A sample of saliva can also be collected from the mouth. * Surgery#Types of surgery, Excision (cutting out), a surgical method for the removal of solid or soft tissue samples. * Puncture (also called ''centesis'') followed by aspiration is the main method used for sampling of many types of tissues and body fluids. Examples are thoracoc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turner Syndrome
Turner syndrome (TS), commonly known as 45,X, or 45,X0,Also written as 45,XO. is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. Typically, people have two sex chromosomes (XX for females or XY for males). The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Those affected do not normally develop menstrual periods or mammary glands without hormone trea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infant Respiratory Distress Syndrome
Infant respiratory distress syndrome (IRDS), also known as surfactant deficiency disorder (SDD), and previously called hyaline membrane disease (HMD), is a syndrome in premature infants caused by developmental insufficiency of pulmonary surfactant production and structural immaturity in the lungs. It can also be a consequence of neonatal infection and can result from a genetic problem with the production of surfactant-associated proteins. IRDS affects about 1% of newborns and is the leading cause of morbidity and mortality in preterm infants. Data have shown the choice of elective caesarean sections to strikingly increase the incidence of respiratory distress in term infants; dating back to 1995, the UK first documented 2,000 annual caesarean section births requiring neonatal admission for respiratory distress. The incidence decreases with advancing gestational age, from about 50% in babies born at 26–28 weeks to about 25% at 30–31 weeks. The syndrome is more frequent in m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klinefelter Syndrome
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders. The birth prevalence of KS in the State of Victoria, Australia was estimated to be 223 per 100,000 males. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital. The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is diagnosed by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydramnios
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly. The opposite to polyhydramnios is oligohydramnios, not enough amniotic fluid. Presentation Associated conditions Fetuses with polyhydramnios are at risk for a number of other problems including cord prolapse, placental abruption, premature birth and perinatal death. At delivery the baby should be checked for congenital abnormalities. Causes In most cases, the exact cause cannot be identified. A single case may have one or more causes, including intrauterine infection (TORCH), rh-isoimmunisation, or chorioangioma of the placenta. In a multiple gestation pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
