A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

Click on the A-Z search bar above if you know the word you are looking for.

Achondroplasia – a genetic disorder that causes abnormal formation of the bones, as a result of abnormal growth and development of cartilage.


Adult polycystic kidney disease – a genetic disorder which results in the growth of numerous fluid-filled cysts in the kidneys of adults.


Albinism – a group of conditions where people are born with little or no pigmentation in their eyes, skin and hair (or sometimes just in the eyes alone).


Aminoglycoside – a class of antimicrobial agent.


Amniocentesis – a diagnostic test that involves inserting a needle through the abdominal wall, into the amniotic sac and removing some of the amniotic fluid (containing foetal cells), using ultrasound as a guide.


Amnionitis – infection resulting in inflammation of the amniotic sac, which often causes premature rupture of the membranes.


Anencephaly – absence of a brain in a foetus.


Autosome – a chromosome not involved in sex determination.

Braxton Hicks contraction – rhythmic uterine muscle activity which occurs during the course of a pregnancy but is not usually felt until late on in pregnancy.

Cardiotocograph (CTG) – an instrument used during labour that records a baby’s heart rate on a beat-to-beat basis in order to monitor the progress of labour and the wellbeing of the baby.


Carditis – inflammation of the heart.


Catheter – a tube inserted into a cavity to draw out fluid (e.g. a urinary catheter used to draw out urine from the bladder).


Centromere – a specialised chromosome region where the two chromatids are joined at the region of the chromosome to which spindle fibres attach during cell division.


Cervix (of the uterus) – the lower part of the uterus extending into the vagina.


Child health screening – the use of formal tests or examination procedures on a population basis to identify those who are apparently well but who may have a disease or defect, so that they can be referred for a definitive diagnostic test.


Child health surveillance – routine child health checks and monitoring.


Chorion – the membrane surrounding the embryo.


Chorionic villus sampling (CVS) – a procedure used to obtain a sample of the chorionic villi (developing placenta) for genetic testing.


Chorioretinitis – inflammation of the retina and choroid (the middle layer of the eye). Common symptoms include a productive cough, fever, chills and shortness of breath.


Chromatid – the two identical halves of a chromosome produced for cell division and meiosis.


Cleft chin – a dimple or divide in the end of the chin which is quite harmless, just a cosmetic difference between humans.


Congenital – a condition present before birth.


Cranial osteopathy – an alternative therapy in which the skull bones are manipulated.


Craniosacral therapy – an alternative therapy in which the skull bones are manipulated.


Cystic fibrosis (CF) – a degenerative condition that affects the lungs and pancreas.

Deep vein thrombosis (DVT) – blood clotting in the veins of the inner thigh or leg, often associated with air travel, particularly in economy class. The blood clot can break off and make its way to the lung where it could cause respiratory distress or respiratory failure.


Deoxyribonucleic acid (DNA) – the carrier of genetic material found in the chromosomes of the cell nucleus.


Double test – an antenatal blood test that can detect whether or not a pregnant woman has an increased risk of the baby having Down's syndrome or a neural tube defect (including spina bifida).


Down’s syndrome – a congenital disorder in which a person is born with three copies of chromosome 21 (trisomy 21).


Duchenne muscular dystrophy (DMD) – a severe and progressive neuromuscular disorder, affecting approximately one in every 3,000 to 4,000 male live births.

Edward’s syndrome – a severe chromosome abnormality in which a person is born with three copies of chromosome 18 (trisomy 18).


Electroconvulsive therapy (ECT) – electrically induced convulsions used to treat severe mental illness.


Embryo – the correct term for a developing baby from implantation in the uterus until approximately the eighth week after fertilisation.


Endotoxins – toxins (poisons) present in some micro-organisms that are closely associated with the cell membrane and are released on cell lysis (rupture).


Epidural – the common name for an epidural anaesthetic, a method of pain relief often used by women in labour and achieved by injection of local anaesthetic into the epidural space of the spinal canal.


Episiotomy – a surgical incision into the perineum and vagina to prevent traumatic tearing during delivery.

Gene therapy – a way of treating or correcting genetic disorders by introducing the normal or functioning gene into the cells of individuals who lack the normal gene.


Genome – all the genetic material in the chromosomes of a particular organism; its size is generally given as its total number of base pairs.


Glaucoma – an eye disease, characterised by increased pressure inside the eyeball that leads to changes in the optic disc and affects vision.

Klinefelter’s syndrome – a chromosomal abnormality which affects males and means that they carry an extra one or more X chromosomes.

Lactational amenorrhoea – the use of breast feeding as a contraceptive method.

Mastitis – inflammation of the breast. In most cases caused by milk stasis but may also be caused by infection.


Meiosis – cell division to produce gametes (sex cells). Sometimes called ‘reductive division’ as the number of chromosomes in each cell is halved (23 pairs in humans is reduced to 23 unpaired chromosomes). Meiosis involves a single round of DNA replication followed by two rounds of cell division.


Membranes – pliable sheetlike structures acting as boundaries, linings or partitions; a term also used specifically to describe the sac filled with amniotic fluid in which a developing baby grows.


Mendel’s pattern of inheritance – diseases or traits following Mendel’s pattern of inheritance are the result of a single mutant gene and are inherited in simple patterns.


Microbe – a micro-organism, such as a bacterium, virus or fungus, which cannot be seen with the naked eye.


Mitosis – cell division producing two daughter cells that are genetically identical to each other and to the parent cell. This type of cell division occurs for growth and repair.


Myalgia – pain in a muscle or muscles.


Myocarditis – inflammation of the myocardium; the middle muscular layer of the heart wall.


Myocardium – the middle muscular layer of the heart wall.

Needle aspiration – to draw fluid out using negative pressure from a syringe.


Neonatal period – the first four weeks after birth.


Neurofibromatosis (NF) – an inheritable genetic disorder where the main feature is the development of benign tumours on nerve tissue throughout the body.


Nuchal test (nuchal translucency, NT) – a screening test to predict the risk of Down's syndrome by measuring the depth of a dark fluid-filled space behind the baby's neck. The deeper this space, the greater the risk of Down's syndrome.

Patau’s syndrome – a congenital disorder in which a person is born with three copies of chromosome 13 (trisomy 13).


Pericarditis – inflammation of the pericardium; a double membranous sac that envelopes and protects the heart.


Placenta (afterbirth) – an organ characteristic of true mammals during pregnancy, joining the mother to its offspring. It allows for the exchange of nutrients and waste products.


Pneumonitis – inflammation of the lung, secondary to viral or bacterial infection.


Prostaglandin – a hormone used to augment labour.


Protein-losing enteropathy – disease of the intestine in which protein is lost.


Puerperal sepsis – postpartum infection that is accompanied by fever after the first 24 hours, but before the 11th postpartum day.


Purulent – consisting of or containing pus.


Pylonephritis – (xanthogranulomatous pylonephritis) a rare, chronic severe renal infection.

Sepsis – the presence of organisms in the blood.


Sickle cell anaemia – an inheritable genetic condition in which there is an abnormality of haemoglobin in red blood cells.


Sickle cell disease – a genetic condition in which red blood cells change shape from the normal concave disc shape to a sickle shape when oxygen levels are low, causing anaemia.


Speculum – an instrument to aid examination of a patient with suspected membrane rupture.


Spina bifida – a spinal defect, in which parts of the spine may be missing and the spinal cord exposed.


Susceptibility gene – a gene that confers a risk to develop a disease, but is not necessary or sufficient by itself to cause the disease. It can also contribute to age of onset, severity and protection against developing the disease.


Suture – to stitch closed.

Tay-Sach’s disease – a genetic disorder causing abnormal lipid metabolism and affecting the nervous system.


Thalassaemia – a genetic form of anaemia, which causes affected individuals to be unable to make haemoglobin properly.


Third generation cephalosporin – a class of antimicrobial agent.


Triple test – an antenatal blood test measuring three markers in the blood that can detect whether or not a pregnant woman has an increased risk of the baby having Down's syndrome or a neural tube defect (including spina bifida).

Umbilical – pertaining to the umbilicus (belly button or navel).


Uterus (womb) – the hollow muscular organ in female mammals in which the fertilised ovum normally becomes embedded and develops into a baby.