Nuchal Translucency
A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic 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 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 increase; 65% of the largest translucencie ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Nape
The nape is the back of the neck. In technical anatomical/medical terminology, the nape is also called the nucha (from the Medieval Latin rendering of the Arabic , "spinal marrow"). The corresponding adjective is ''nuchal'', as in the term ''nuchal rigidity'' for neck stiffness. In many mammals the nape bears a loose, non-sensitive area of skin, known as the scruff, by which a mother carries her young by her teeth, temporarily immobilizing it during transport. In the mating of cats the male will grip the female's scruff with his teeth to help immobilize her during the act, a form of pinch-induced behavioral inhibition Pinch-induced behavioural inhibition (PIBI), also called dorsal immobility, transport immobility or clipnosis, is a partially inert state which results from a gentle squeeze of the skin behind the neck. It is mostly observed among cats and allows .... Cultural connotations In traditional Japanese culture, the was one of the few areas of the body (other than ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Turner Syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average. Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Trisomy 18
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (''See'' non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Terminology The number of chromosomes in the cell ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Sensitivity And Specificity
''Sensitivity'' and ''specificity'' mathematically describe the accuracy of a test which reports the presence or absence of a condition. Individuals for which the condition is satisfied are considered "positive" and those for which it is not are considered "negative". *Sensitivity (true positive rate) refers to the probability of a positive test, conditioned on truly being positive. *Specificity (true negative rate) refers to the probability of a negative test, conditioned on truly being negative. If the true condition can not be known, a " gold standard test" is assumed to be correct. In a diagnostic test, sensitivity is a measure of how well a test can identify true positives and specificity is a measure of how well a test can identify true negatives. For all testing, both diagnostic and screening, there is usually a trade-off between sensitivity and specificity, such that higher sensitivities will mean lower specificities and vice versa. If the goal is to return the ratio at w ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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False Positive
A false positive is an error in binary classification in which a test result incorrectly indicates the presence of a condition (such as a disease when the disease is not present), while a false negative is the opposite error, where the test result incorrectly indicates the absence of a condition when it is actually present. These are the two kinds of errors in a binary test, in contrast to the two kinds of correct result (a and a ). They are also known in medicine as a false positive (or false negative) diagnosis, and in statistical classification as a false positive (or false negative) error. In statistical hypothesis testing the analogous concepts are known as type I and type II errors, where a positive result corresponds to rejecting the null hypothesis, and a negative result corresponds to not rejecting the null hypothesis. The terms are often used interchangeably, but there are differences in detail and interpretation due to the differences between medical testing and statist ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Pregnancy-associated Plasma Protein A
Pappalysin-1, also known as pregnancy-associated plasma protein A, and insulin-like growth factor binding protein-4 protease is a protein encoded by the ''PAPPA'' gene in humans. PAPPA is a secreted protease whose main substrate is insulin-like growth factor binding proteins. Pappalysin-1 is also used in screening tests for Down syndrome. Function ''PAPPA'' encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). PAPPA's proteolytic function is activated upon collagen binding. It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses (fetuses with an abnormal number of chromosomes). For example, low PAPPA may be commonly seen in prenatal screening for Down syndrome. Low levels may alternatively predict issues with the placenta, resulting in adverse complications such as i ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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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 not known 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. Various endogenous forms of hCG exist. The measurement of these diverse forms is used in the diagnosis of pregnancy and a variety of disease states. Preparations of hCG from various sources have also been used therapeutically, by ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Stillbirth
Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can result in the feeling of guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and Sudden Infant Death Syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health systems. Around half of stillbirths occur durin ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Congenital Heart Defect
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic conditio ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Chromosomal Abnormality
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Numerical abnormality An abnormal number of chromosomes is called aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromos ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Crown-rump Length
Crown-rump length (CRL) is the measurement of the length of human embryos and fetuses from the top of the head (crown) to the bottom of the buttocks (rump). It is typically determined from ultrasound imagery and can be used to estimate gestational age. Introduction The embryo and fetus float in the amniotic fluid inside the uterus of the mother usually in a curved posture resembling the letter ''C''. The measurement can actually vary slightly if the fetus is temporarily stretching (straightening) its body. The measurement needs to be in the natural state with an unstretched body which is actually ''C'' shaped. The measurement of CRL is useful in determining the gestational age (menstrual age starting from the first day of the last menstrual period) and thus the expected date of delivery (EDD). Different babies do grow at different rates and thus the gestational age is an approximation. Recent evidence has indicated that CRL growth (and thus the approximation of gestational age) ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Sagittal Section
The sagittal plane (; also known as the longitudinal plane) is an anatomical plane that divides the body into right and left sections. It is perpendicular to the transverse and coronal planes. The plane may be in the center of the body and divide it into two equal parts ( mid-sagittal), or away from the midline and divide it into unequal parts (para-sagittal). The term ''sagittal'' was coined by Gerard of Cremona. Variations in terminology Examples of sagittal planes include: * The terms ''median plane'' or ''mid-sagittal plane'' are sometimes used to describe the sagittal plane running through the midline. This plane cuts the body into halves (assuming bilateral symmetry), passing through midline structures such as the navel and spine. It is one of the planes which, combined with the Umbilical plane, defines the four quadrants of the human abdomen. * The term ''parasagittal'' is used to describe any plane parallel or adjacent to a given sagittal plane. Specific named parasag ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |