CDH UK - The CDH support charity

Call us on freephone 0800 731 6991

Return to the homepage


the part of the body of a vertebrate containing the digestive and reproductive organs; the belly
Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe. Tests performed on fetal cells found in the sample can reveal the presence of many types of genetic disorders, thus allowing doctors and prospective parents to make important decisions about early treatment and intervention
Amniotic fluid
the liquid within the amnion that bathes the developing fetus and protects it from mechanical injury
before birth; during or relating to pregnancy
Apgar score
a simple and repeatable method to quickly and summarily assess the health of newborn children immediately after birth
Artificial ventilation (life support)
involves the use of a mechanical ventilator to move air in and out of the lungs when an individual is unable to breathe on his or her own
a healthcare professional specializing in identifying, diagnosing, treating and monitoring disorders of the auditory and vestibular system portions of the ear
having or relating to two sides ; affecting both sides
a muscular membranous sac in the abdomen which receives urine from the kidneys and stores it for excretion
Blood gases
the pH of the blood, the partial pressure of carbon dioxide and oxygen, and the bicarbonate level
Bochdalek Hernia
Posterior (rear) left sided hernia
the part of the alimentary canal below the stomach; the intestine
Caesarean section (C-section)
a surgical procedure in which one or more incisions are made through a mother's abdomen (laparotomy) and uterus (hysterotomy) to deliver one or more babies
relating to the heart and blood vessels
of a thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes
a formal meeting of people with a shared interest
Born with
Cornelia De Lange
Cornelia de Lange Syndrome aka CdLS is a genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000[1].
a person trained to give guidance on personal or psychological problems
a bluish discolouration of the skin due to poor circulation or inadequate oxygenation of the blood
a bluish discolouration of the skin due to poor circulation or inadequate oxygenation of the blood
the identification of the nature of an illness or other problem by examination of the symptoms
of the Diaphragm
a sheet of muscle separating the abdominal and thoracic cavities and functioning in respiration
Down’s Syndrome
Down syndrome, or Down's syndrome (primarily in the United Kingdom),[1][2] trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterised by a combination of major and minor differences in structure.[clarification needed] Down syndrome in a fetus can be identified with amniocentesis during pregnancy, or in a baby at birth.
extracorporeal membrane oxygenation (ECMO) is an extracorporeal technique of providing both cardiac and respiratory support oxygen to patients whose heart and lungs are so severely diseased or damaged that they can no longer serve their function
Edward’s Syndrome
Trisomy 18 (T18) (also known as Trisomy E or Edwards syndrome) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960.[1] It is the second most common autosomal trisomy, after Down Syndrome.
relating to or arising from a person’s surroundings
FETO (Fetal Endoscopic Trachael Occlusion)
This involves the placement of a balloon into a baby’s trachea to attempt to improve the development of the lungs whilst the baby is growing in the womb. FETO is classed as a minimally invasive procedure carried out by a specialist medical team
relating to or occurring in a family or its members
Fetal Medicine
Maternal-Fetal medicine (MFM) is the branch of obstetrics that focuses on the medical and surgical management of high-risk pregnancies. Management includes monitoring and treatment including comprehensive ultrasound, chorionic villus sampling, genetic amniocentesis, and fetal surgery or treatment. An obstetrician who practices maternal-fetal medicine sometimes is known as a perinatologist. This is a subspecialty to obstetrics and gynecology mainly used for patients with high-risk pregnancies.
Fryn’s syndrome
Fryn’s syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period (Alessandri et al., 2005). Fryns (1987) reviewed the syndrome.
relating to the stomach and the intestines
a unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring
relating to genes or heredity
Genetic counsellor
a person qualified to carry out genetic counselling; the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or ameliorate it. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects.[1]
relating to the genital and urinary organs
relating to geography; a geographical area; a region
the process or period of developing inside the womb between conception and birth
Gore-Tex is a waterproof/breathable fabric
a hollow muscular organ that pumps the blood through the circulatory system by rhythmic contraction and dilation. In vertebrates there may be up to four chambers (as in humans), with two atria and two vent relating to the genital and urinary organsricles
a general term used to describe a bulge or protrusion of an organ through the structure or muscle that usually contains it
a bulge or protrusion of an organ through the structure or muscle that usually contains it; suffer a hernia
High Frequency Oscillation Ventilation (HFOV)
is a type of mechanical ventilation that employs very high respiratory rates (>60 breaths per minute) and very small tidal volumes (usually below anatomical dead space). High frequency ventilation is thought to reduce ventilator-associated lung injury
the process of bringing on the birth of a baby by artificial means, typically by the use of drugs
Inhaled Nitric Oxide (INO)
a therapy using a gas (nitric oxide) sometimes used to treat breathing problems
the lower part of the alimentary canal from the end of the stomach to the anus
the process of inserting a tube into (a person or a body part , especially the trachea for ventilation)
involving the introduction of instruments or other objects into the body or body cavities
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryote cell.[1][2]p28[3] The term is also used for the complete set of chromosomes in a species, or an individual organism.
The kidneys' main function is to purify the blood by removing nitrogenous waste products and excreting them in the urine. They also control the fluid and ion levels in the body, by excreting any excesses.
Lung to head ratio; is a numeric estimate of the size of the fetal lungs, based on measurement of the amount of visible lung
a large lobed glandular organ in the abdomen of vertebrates, involved in many metabolic processes
Local anaesthetic
A local anaesthetic is a drug that causes reversible local anaesthesia and a loss of nociception. When it is used on specific nerve pathways (nerve block), effects such as analgesia (loss of pain sensation) and paralysis (loss of muscle power) can be achieved.
The lung (adjectival form: pulmonary) is the essential respiration organ in many air-breathing animals
Lung Hypoplasia
Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs.
MRI (Magnetic Resonance Imaging)
Magnetic resonance imaging (MRI), nuclear magnetic resonance imaging (NMRI), or magnetic resonance tomography (MRT) is a medical imaging technique used in radiology to visualize detailed internal structures
an abnormally formed part of the body
the main means of mass communication (television, radio, and newspapers) regarded collectively
Mediastinal shift
a shifting or moving of the tissues and organs that comprise the mediastinum (heart, great vessels, trachea and esophagus) to one side of the chest cavity
the chemical processes that occur within a living organism in order to maintain life
a nurse who is trained to assist women in childbirth
Morgagni Hernia
Anterior (front) right- sided hernia
involving or dependent on a number of factors, especially genetic or environmental factors
relating to newborn children
A Doctor specialising in Neonatology; a subspecialty of paediatrics that consists of the medical care of newborn infants
NG tube (naso-gastric tube)
a plastic tube that is inserted through the nose, past the throat, and down into the stomach
neo-natal intensive care unit; a unit of a hospital specializing in the care of ill or premature newborn infants
Nissen fundoplication
a procedure whereby a surgeon improves the natural barrier between the stomach and the esophagus by wrapping a part of the stomach known as the gastric fundus around the lower esophagus
a physician or surgeon qualified to practise in obstetrics; the surgical specialty dealing with the care of women and their children during pregnancy (prenatal period), childbirth and the postnatal period.
A Doctor specialising in Pediatrics; the branch of medicine that deals with the medical care of infants, children, and adolescents
Patau’s syndrome
Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations. The extra chromosome 13 disrupts the normal course of development, causing heart and kidney defects amongst other features characteristic of Patau syndrome.[vague] Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.[1] Patau syndrome affects approximately one in 10,000 live birthsme, that carries to term.
excess of amniotic fluid
the likely course of a medical condition
a medical professional qualified in the branch of medicine in which physicians visualize the interior of the human body using various forms of radiation
gastric acid flowing from the stomach into the esophagus
Residual lung
amount of volume of lung
Respiratory failure
is used to describe inadequate gas exchange by the respiratory system, with the result that arterial oxygen and/or carbon dioxide levels cannot be maintained within their normal ranges
is an emergency procedure which is attempted in an effort to return life to a person
a medical examination using a scanner
a conference or other meeting for discussion or training
a diagnostic medical professional who operate ultrasonic imaging devices to produce diagnostic images, scans, videos, or 3D volumes of anatomy and diagnostic data
Speech therapist
a qualified person in the field of speech therapy
an abdominal organ involved in the production and removal of blood cells in most vertebrates and forming part of the immune system
make or become unlikely to change, fail, or decline
the internal organ in which the first part of digestion occurs, being (in humans and many mammals) a pear-shaped enlargement of the alimentary canal linking the oesophagus to the small intestine
a group of symptoms which consistently occur together , or a condition characterized by a set of associated symptoms
Tertiary centre
a local specialist centre
relating to the Thorax
the part of the body of a mammal between the neck and the abdomen, including the cavity enclosed by the ribs, breastbone, and dorsal vertebrae, and containing the chief organs of circulation and respiration; the chest.
a large membranous tube reinforced by rings of cartilage, extending from the larynx to the bronchial tubes and conveying air to and from the lungs; the windpipe
an individual person or member of a board given control or powers of administration of property in trust with a legal obligation to administer it solely for the purposes specified
Turner Syndrome
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.
sound or other vibrations having an ultrasonic frequency, particularly as used in medical imaging
the internal organs in the main cavities of the body, especially those in the abdomen, e.g. the intestines
the pH of the blood, the partial pressure of carbon dioxide and oxygen, and the bicarbonate level