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Here is a glossary to help explain some of the more common terms that you may come across. It does not cover the more complicated terminology associated with genetics and does not include details about the rare disorders that will be diagnosed in some babies. It is not meant to be a substitute for getting good information from those professionals responsible for looking after you. If they use words and language that you do not understand, feel able to ask them to repeat what they have told you and to explain themselves more clearly.A(n) - used at the beginning of many words to mean that something is missing, lacking or it can simply mean not, e.g. acardia (absence of the heart), amorphic (lacking definite shape) atypical (not usual) AC (abdominal circumference) - measurement used in ultrasound to help calculate a baby's gestation. Agenesis (a-genesis) - in medical terms, agenesis means absence of something. Agenesis of the corpus callosum In this case, a part of the brain that joins the two hemispheres together is missing. Renal agenesis means the kidneys are missing. Amniotic Fluid - This is the fluid surrounding the fetus in the uterus which protects it during pregnancy and labour. It contains substances and cells from the baby, which can be removed by amniocentesis and examined. Anencephaly - See Neural Tube Defect. Anomaly - A malformation or abnormality in any part of the body. Aplasia - total or partial failure of development of an organ or tissue. Atresia (atreesia) - absence or abnormal narrowing of a body opening, e.g. duodenal atresia, the narrowing of part of the small intestine that consequently causes an obstruction. Autosome - any chromosome that is not a sex chromosome. Autosomal Dominant - describes a situation in which the person possessing an altered gene will show characteristics of the genetic disorder and has a 50% chance of passing it on to a child. Autosomal Recessive - describes a situation in which the carrier of an altered gene does not show any characteristics of the disorder. The baby of two carriers of the altered gene has a 25% chance of inheriting the disorder. BPD (biparietal diameter) - measurement of two bones in the skull used by ultrasonographers to help calculate a baby's gestation. Cardiology - the science concerned with the structure, function and diseases of the heart. cardiologist Centile Chart - chart used to assess a baby's/child's physical development. The lines of growth on the chart are called centiles. The number of the centile (from one to a hundred) predicts the percentage of babies/children who are below that measurement for a particular age. E.g. if a baby falls within the 10th centile, it means 10% of all babies will be smaller and 90% will be bigger. A baby would be expected to stay within the same centile. Cephalic (kefallic) - relating to the head. Chromosome - a rod like structure present in all the body's cells (apart from red blood cells) which stores genetic information. Normally, humans have 23 pairs. The sperm and ova contain 23 each which combine at fertilization to create 46. Each chromosome pair is given a number to describe it, from 1 to 23 (number 23 is the pair of sex chromosomes, XX or XY). e.g. Down syndrome describes a condition in which the baby has three of chromosome 21 rather than the usual pair, so it is also known as Trisomy 21. Chromosome Abnormality - A change in the number or arrangement of the normal 23 pairs of chromosomes. Congential Abnormality - An abnormality present at birth, although not necessarily hereditary. Consultant - a highly trained specialist in a branch of medicine who accepts total responsibility for patient care. CRL (crown rump length) - measurement of baby from top of the baby's head to its bottom used in ultrasound to help calculate gestation. Cyst - an abnormal sac or closed hole containing liquid or semi-solid matter. cystic Cystic hygroma - cyst on lymphatic vessels, usually around the head and neck region. These cysts can vary enormously in size, from a small growth on the neck to a very large mass of growths which can seriously inhibit eating. Downs Syndrome - A chromosome abnormality in which there are 3 copies of chromosome 21 instead of 2. It is also called Trisomy 21. The condition is characterised by distinctive facial features and varying degrees of learning difficulties and is often associated with lung and heart problems. Deletion - genetic material is missing on a chromosome. Diaphragmatic Hernia (dyafrematic) - sometimes referred to as a congenital diaphragmatic hernia (CDH) a hole in the diaphragm which the bowel can pass through. This could affect the development of a baby's lungs if the bowel goes up into the chest and then squashes against the heart and lungs. Dys- - used at the beginning of many words to mean difficult, abnormal or impaired, e.g. dysplasia Dysplasia (displaysia) - abnormal development of skin, bone or other tissues. Edwards Syndrome - A chromosome abnormality in which there are three copies of chromosome 18 instead of two. It is also called Trisomy 18. The condition means that the baby may not survive pregnancy, or may have a short life and require specialised nursing, but some babies can be cared for at home and may live longer than first predicted. Fetoscopy - a special fibre optic instrument is passed through the abdomen of a pregnant woman to examine the baby. If required, it is usually done in the 18th-20th week of pregnancy. FL (femur length) - measurement of thigh bone used in ultrasound to help calculate a baby's gestation. Gene - The unit of a chromosome through which particular characteristics are inherited from one or both parents. Genetic Abnormality - A disorder arising from an abnormality in the chromosomes which may or may not be hereditary. Genetic Counsellor - a health professional who specialises in advising parents about inherited disorders and the likelihood of becoming affected or having affected children. He or she can also give information on what may be available in order to prevent, diagnose and manage such conditions. Gynaecology - the study of diseases of women and girls, particularly those affecting the female reproductive system. Gynaecologist Haem- - used at the beginning of words to mean blood, e.g. haemorrhage (bleeding) haemophilia (inherited disorder in which blood clots very slowly). Hereditary - describes how characteristics are transmitted through families within the chromosomes of the fertilising egg and sperm. Hydro- - This is used at the beginning of many words to mean water or watery fluid, e.g. hydrocephalus. Hydrocephalus - Hydrocephalus is due to an imbalance in the production and absorption of cerebrospinal fluid (CSF). This causes the ventricles in the brain to swell, causing pressure on the surrounding tissue. The causes vary, but it is rarely genetic. The effects of hydrocephalus vary significantly, but the outlook for those where it is detected in the womb is generally very poor. Hydrops - an abnormal build-up of fluid in body tissues or cavities hydrops fetalis describes severe swelling that develops before birth most often because of anaemia. Hyp(o)- - This is used at the beginning of many words to mean deficiency, lack or small size, e.g. hypoplasia. When speaking anatomically it can also mean under, e.g. hypodermic needle - syringe used to inject a substance under the skin. Hypoplasia (hypoplaysia) - underdevelopment of an organ or tissue. Inherited - Having a hereditary characteristic; this can be eye colour, a personality type or a disease. Intra- - used at the beginning of words to mean inside or within, e.g. intrauterine - within the uterus. IUGR (intrauterine growth retardation) - a condition which leads to a baby being born extremely small for its gestational dates. Karyotype - this is done after an invasive test. In the laboratory all the baby's chromosomes are carefully analysed under a microscope and organised in numbered order. They will be able to detect chromosomal disorders by doing this. Magnetic Resonance Imaging (MRI) - a way of analysing body tissues by using radio waves and a magnetic field. It is particularly useful for examining the central nervous system and musculoskeletal system. It is a non-invasive diagnostic tool and it does not use potentially harmful radiation as in x-rays. Microcephaly (microkefali) - a condition in which the brain is not fully developed and the head is very small in relation to the rest of the body. Monosomy - the absence of one of a pair of chromosomes. Mosaicism - where a genetic or chromosomal abnormality occurs in some body cells. The proportion of normal to abnormal cells will determine how serious the condition is. Neonate - used to refer to a baby in the first four weeks of life. Neonatal, neonatologist Neural Tube - the structure in an embryo from which the brain and spinal cord form. neural tube defects (NTDs) occur when this does not form properly. There are several types of NTD, including spina bifida. Neurology - the branch of science that deals with the structure, functioning and diseases of the nervous system. neurologist Obstetrics - the branch of medical science concerned with pregnancy, childbirth and the period of about six weeks following the birth, when the reproductive organs are recovering. Obstetrician. Olig- (oligo) - used at the beginning of words to mean few or not enough, e.g. oligohydramnios (see next entry). Oligohydramnios (oligohydramnios) - a condition in which the amount of amniotic fluid is unusually small. It often means the baby's growth is affected. Omphal- (omphalo-) concerning the navel or umbilical cord. Ost- (oste-,osteo-) - used at the beginning of words to refer to bone, e.g. osteoporosis - loss of bony tissue, causing brittle bones. Paediatrics - the branch of medical science concerning child health. Paediatrician. Perinatal - relating to the period that starts a few weeks before birth, includes the birth and a few weeks afterwards. -plasia - used at the end of words to mean formation or development, e.g. dysplasia. Poly- - used at the beginning of many words to mean many; multiple or excessive, e.g. polycystic describes multiple cysts. Polyhydramnios (polyhydramnios) - a condition in which there is too much amniotic fluid. It can lead to premature delivery and can also indicate other anomalies. Postpartum - concerning the few days after birth. Pulmonary (pullmoneri) - to do with the lungs. Renal (reenal) - to do with the kidneys. Shunt - a surgically inserted tube that can divert blood or other fluid from one of the baby's bodily channels to another. A shunt can be inserted in some cases of hydrocephalus to drain the build-up of cerebro-spinal fluid.0 Stenosis - the abnormal narrowing of a passage or opening, such as a blood vessel or heart valve. Syndrome - combination of symptoms and signs grouped together to form a disorder. Translocation - happens when there is a rearrangement in which a piece of one chromosome is transferred to another with a different number. Triploidy - the presence of a full extra set of chromosomes. Trisomy (trysomi) - the addition of a complete extra chromosome to a pair. Down syndrome is also known as Trisomy 21, as there is one extra chromosome 21. Ventricle - 1. either of the two lower chambers of the heart which both have thick muscular walls. The left ventricle is thicker than the right and pumps blood into the aorta; the right ventricle pumps blood into the pulmonary artery. 2. one of the four cavities which are filled with fluid in the brain. |
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