|
Triploid Syndrome
Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. If this occurs in only some cells, it is called mosaic triploidy and is less severe. Most embryos with triploidy miscarry early in development. Signs and symptoms Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects. Skeletal manifestations include cleft lip/palate, hypertelorism, club foot and syndactyly of fingers three and four. Congenital heart defects, hydronephrosis, omphalocele and meningocele (spina bifida) are also common. Cystic hygromas occur but are uncommon. Triploid fetuses have intr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Club Foot
Clubfoot is a congenital or acquired defect where one or both feet are supinated, rotated inward and plantar flexion, downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: Idiopathic disease, idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertension
Hypertension, also known as high blood pressure, is a Chronic condition, long-term Disease, medical condition in which the blood pressure in the artery, arteries is persistently elevated. High blood pressure usually does not cause symptoms itself. It is, however, a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as essential hypertension, primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to non-specific lifestyle and Genetics, genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, overweight, excess body weight, smoking, physical inactivity and Alcohol (drug), alcohol use. The remaining 5–10% of cases are categorized as secondary hypertension, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Edema
Edema (American English), also spelled oedema (British English), and also known as fluid retention, swelling, dropsy and hydropsy, is the build-up of fluid in the body's tissue (biology), tissue. Most commonly, the legs or arms are affected. Symptoms may include skin that feels tight, the area feeling heavy, and joint stiffness. Other symptoms depend on the underlying cause. Causes may include Chronic venous insufficiency, venous insufficiency, heart failure, kidney problems, hypoalbuminemia, low protein levels, liver problems, deep vein thrombosis, infections, kwashiorkor, angioedema, certain medications, and lymphedema. It may also occur in immobile patients (stroke, spinal cord injury, aging), or with temporary immobility such as prolonged sitting or standing, and during menstruation or pregnancy. The condition is more concerning if it starts suddenly, or pain or shortness of breath is present. Treatment depends on the underlying cause. If the underlying mechanism involve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Chorionic Gonadotropin
Human chorionic gonadotropin (hCG) is a hormone for the maternal recognition of pregnancy produced by trophoblast cells that are surrounding a growing embryo (syncytiotrophoblast initially), which eventually forms the placenta after implantation. The presence of hCG is detected in some pregnancy tests (HCG pregnancy strip tests). Some cancerous tumors produce this hormone; therefore, elevated levels measured when the patient is not pregnant may lead to a cancer diagnosis and, if high enough, paraneoplastic syndromes, however, it is unknown whether this production is a contributing cause or an effect of carcinogenesis. The pituitary analog of hCG, known as luteinizing hormone (LH), is produced in the pituitary gland of males and females of all ages. Beta-hCG is initially secreted by the syncytiotrophoblast. Structure Human chorionic gonadotropin is a glycoprotein composed of 237 amino acids with a molecular mass of 36.7 kDa, approximately 14.5kDa αhCG and 22.2kDa βhCG ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-fetoprotein
Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein that in humans is encoded by the ''AFP'' gene. The ''AFP'' gene is located on the ''q'' arm of chromosome 4 (4q13.3). Maternal AFP serum level is used to screen for Down syndrome, neural tube defects, and other chromosomal abnormalities. AFP is a major plasma protein produced by the yolk sac and the fetal liver during fetal development. It is thought to be the fetal analog of serum albumin. AFP binds to copper, nickel, fatty acids and bilirubin and is found in monomeric, dimeric and trimeric forms. Structure AFP is a glycoprotein of 591 amino acids and a carbohydrate moiety. Function The function of AFP in adult humans is unknown. AFP is the most abundant plasma protein found in the human fetus. In the fetus, AFP is produced by both the liver and the yolk sac. It is believed to function as a carrier protein (similar to albumin) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nuchal Scan
A Nape, nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal diagnosis, prenatal screening scan (ultrasound) to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected. Since chromosomal abnormalities can result in impaired cardiovascular development, a nuchal translucency scan is used as a screening, rather than diagnostic, tool for conditions such as Down syndrome, Patau syndrome, Edwards Syndrome, and non-genetic Body-stalk, body-stalk anomaly. There are two distinct measurements: the size of the nuchal translucency and the thickness of the nuchal fold. Nuchal translucency size is typically assessed at the end of the first trimester, between 11 weeks 3 days and 13 weeks 6 days of pregnancy. Nuchal fold thickness is measured towards the end of the second trimester. As nuchal translucency size increases, the chances of a chromosomal abnormality and mortality incre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligohydramnios
Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. The limiting case is anhydramnios, where there is a complete absence of amniotic fluid. It is typically diagnosed by ultrasound when the amniotic fluid index (AFI) measures less than 5 cm or when the single deepest pocket (SDP) of amniotic fluid measures less than 2 cm. Amniotic fluid is necessary to allow for normal fetal movement, lung development, and cushioning from uterine compression. Low amniotic fluid can be attributed to a maternal, fetal, placental or idiopathic cause and can result in poor fetal outcomes including death. The prognosis of the fetus is dependent on the etiology, gestational age at diagnosis, and the severity of the oligohydramnios. The opposite of oligohydramnios is polyhydramnios, or an excess of amniotic fluid. Background Amniotic fluid is a clear, watery substance that surrounds ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intrauterine Growth Restriction
Intrauterine growth restriction (IUGR), or fetal growth restriction, is the poor growth of a fetus while in the womb during pregnancy. IUGR is defined by clinical features of malnutrition and evidence of reduced growth regardless of an infant's birth weight percentile. The causes of IUGR are broad and may involve maternal, fetal, or placental complications. At least 60% of the 4 million neonatal deaths that occur worldwide every year are associated with low birth weight, caused by intrauterine growth restriction (IUGR), preterm delivery, and genetic abnormalities, demonstrating that under-nutrition is already a leading health problem at birth. Intrauterine growth restriction can result in a baby being small for gestational age (SGA), which is most commonly defined as a weight below the 10th percentile for the gestational age. At the end of pregnancy, it can result in a low birth weight. Types There are two major categories of IUGR: pseudo IUGR and true IUGR With pseudo IU ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Hygroma
A cystic hygroma is a form of lymphatic malformation. It is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the fetus is still in the uterus, but can also appear after birth. Also known as cystic lymphangioma and macrocystic lymphatic malformation, the growth is often a congenital lymphatic lesion of many small cavities (multiloculated) that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. The malformation contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. Deep locules are quite big, but they decrease in size towards the surface. Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can be present in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spina Bifida
Spina bifida (SB; ; Latin for 'split spine') is a birth defect in which there is incomplete closing of the vertebral column, spine and the meninges, membranes around the spinal cord during embryonic development, early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the Lumbar vertebrae, lower back, but in rare cases it may be in the Thoracic vertebrae, middle back or Cervical vertebrae, neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired Neurogenic bladder dysfunction, bladder o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Omphalocele
An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele. Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities. Signs and symptoms The sac, which is formed from an out ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
