1.1.1 In small unicellular organisms, substances move around slowly by diffusion.

Diffusion is too slow to move substances round the larger bodies of multicellular organisms. They have a circulatory system: substances are carried in blood pumped by a heart. In a closed circulatory system (eg in vertebrates) blood is enclosed in narrow blood vessels. This increases efficiency: blood travels faster as a higher pressure is generated. Valves ensure blood flows in one direction:

heart

arteries

arterioles

veins

venules

capillaries

Fish have a single circulation: heart pumps blood to gills for gas exchange, then to tissues and back to the heart. Birds and mammals have a double circulation: right ventricle pumps blood to lungs. Blood returns to the left atrium and then the left ventricle pumps it to the rest of the body. Blood travels round the body faster, delivering nutrients faster, so the animals have a higher metabolic rate.

1.1.2 Arteries and veins contain collagen: a tough, fibrous protein to make them tough and durable. The artery wall stretches as blood is pumped in and then recoils as the heart relaxes. Blood flow is continual and there is a pulse. Contracting muscles and low pressure in the chest when breathing in assist blood flow in veins. Valves prevent backflow. There is no pulse and pressure is low. See diagrams and photomicrographs: Figure 1.10 on page 8 of the textbook.

Arteries narrow lumen thicker walls more collagen, elastic fibres and smooth muscle no valves wide lumen thinner walls

Veins

less collagen, elastic fibres and smooth muscle valves

1.1.3 Figure 1.9 on page 8 of the textbook: make sure you know the structure of the heart. The chambers of the heart (atria and ventricles) fill with blood when they relax (diastole) and pump blood out when they contract (systole). The cardiac muscle making up the atria and ventricles is supplied with blood by the coronary arteries.
PHASE OF CARDIAC CYCLE DETAIL

Atrial systole

Pressure in the atria increases as they fill with blood returning from the veins. Increased pressure opens the atrioventricular valves allowing blood to enter the ventricles. The atria contract to force remaining blood into ventricles.

Ventricular systole

Ventricles contract from the base up, increasing the pressure and closing the atrioventricular valves. The semilunar valves open and blood is forced into the arteries.

Diastole

As the atria and ventricles relax, pressure falls. In the ventricle, this causes closure of the semilunar valves. In the atria blood is drawn into the heart from the veins.

1.1.4

Atherosclerosis: a disease process where fatty deposits block an artery or increase its chances of being blocked by a blood clot (thrombosis) How atherosclerosis (hardening of the arteries) occurs:

Lining (endothelial) cells damaged eg by high blood pressure or cigarette smoke toxins.

Inflammation occurs white blood cells move into the artery wall. They accumulate cholesterol. A deposit (atheroma) builds up.

Blood pressure increases in narrowed artery. Positive feedback causes more damage to endothelial cells.

Calcium salts and fibrous tissue build up in the atheroma, now called a plaque. Artery is less elastic it has hardened.

In the arteries supplying the heart, this causes a heart attack (myocardial infarction). In the arteries supplying the brain, it causes a stroke. An infarction is when tissue dies due to a lack of oxygen. This is usually the result of a lack of blood ischaemia.

1.1.5 Blood clots when it flows very slowly, or when blood vessel walls are damaged. A blood clot consists of cells trapped in a mesh of insoluble fibrin protein. When platelets come into contact with the vessel wall, they become spiky they stick to each other and the collagen in the wall: a platelet plug is formed.

See Figure 1.14 on page 13 and make sure you understand the roles of thromboplastin, prothrombin, thrombin, fibrinogen and fibrin in the blood clotting process.

1.1.6

Symptoms of cardiovascular disease:

Coronary heart disease

Early symptoms

shortness of breath angina chest pain on exertion irregular heartbeat no symptoms, but changes on ECG

Heart attack

crushing pain in chest which may spread around the body eg into arms or back indigestion-type pain with dizziness no detectable symptoms

Stroke numbness or paralysis on opposite side of body (slurred speech, dribbling mouth, drooping eyelid or mouth) dizziness, blurred or loss of vision confusion same as for full stroke, but only temporary

Full stroke

Mini-stroke (transient ischaemic attack)

The following factors increase a persons risk of developing cardiovascular disease:

GENETIC This is not straightforward, but risk is increased if your parents have CVD. DIET some vitamins act as antioxidants, reducing the damaging effects of free radicals high salt levels cause the kidneys to retain water, increasing blood pressure AGE More likely as you get older. GENDER Incidence is much higher for men than women. HIGH BLOOD PRESSURE SMOKING carbon monoxide prevents haemoglobin from carrying sufficient O2 heart rate increases nicotine stimulates adrenaline release, increasing heart rate and blood pressure chemicals damage endothelium triggering atherosclerosis decreased levels of HDLs INACTIVITY most common risk factor exercise can halve the risk of developing CHD reduces blood pressure STRESS Leads to increased blood pressure, poor diet and increased alcohol consumption. ALCOHOL Heavy drinkers have an increased risk of CHD as alcohol raises blood pressure, contributes to obesity and causes irregular heartbeat. It also increases levels of LDLs. Moderate amounts of alcohol may increase HDL levels.

1.1.7

Blood pressure is a measure of the hydrostatic force of the blood on the walls of a blood vessel. It is higher in arteries and capillaries than in veins. Systolic blood pressure is highest and occurs when the ventricles contract. Pressure is at its lowest in the arteries when the ventricles relax: diastolic blood pressure. Both are measured, using a sphygmomanometer, in mmHg eg 120/80.

Any factor which causes arteries or arterioles to constrict will lead to high blood pressure or hypertension. These include: loss of elasticity with age atherosclerosis adrenaline high salt diet.

High blood pressure caused by atherosclerosis leads to a worsening of the condition!

Tissue fluid At the arterial end of a capillary, the blood pressure forces tissue fluid (water + small molecules dissolved in it) out through the capillary wall. At the venous end, blood pressure is lower and fluid is no longer forced out. As the blood is more concentrated here (because of water loss and the presence of plasma proteins) fluid moves back in by osmosis. 20% of the tissue fluid returns to the circulation via the lymph system. Hypertension causes more fluid to be forced out. The fluid accumulates in the tissues causing oedema.

See Figure 1.30 on page 28 for an explanation of how tissue fluid is formed.

1.1.8

Cardiac muscle contracts without being stimulated by a nerve impulse. The electrical charge in the heart muscle cells changes depolarisation. This spreads from cell to cell (like a wave) causing them to contract. Depolarisation starts in the sinoatrial node or SAN (pacemaker) in the right atrium and spreads across the left and right atria causing them to contract. The atria are electrically insulated from the ventricles so the wave of depolarisation converges on the atrioventricular node (AVN). It then travels down the Bundle of His in the septum and into the Purkyne fibres which then make the ventricles contract from the bottom upwards pushing blood into the aorta and pulmonary artery. When the cells are depolarised, there is a small electrical current detectable on the skin. This is measured in an electrocardiogram or ECG, which can be used to diagnose cardiovascular disease, problems with the conducting system or irregular heartbeat rhythms (arrhythmias).

P wave PR interval QRS complex T wave

depolarisation of the atria causing atrial systole time taken for impulses to travel from SAN, through AVN to ventricles. depolarisation of the ventricles causing ventricular systole repolarisation of the ventricles leading to ventricular diastole

1.1.9 Risk is the probability of occurrence of some unwanted event or outcome. A time period is always quoted eg children in a class having a 1 in 5 (0.2 or 20%) risk of catching head lice in a year. Not all individuals are at risk to the same degree. Risk factors increase the chance of the harmful outcome.

Factors that contribute to health risks include: heredity physical environment social environment lifestyle and behaviour choices

Two factors are positively correlated if an increase in one is accompanied by an increase in the other eg the number of people suffering sunburn and the amount of ice cream sold. A positive correlation does not necessarily mean that the two are causally linked!

1.1.10 Peoples behaviour is affected by the perception of risk. They overestimate the risk of something happening if the risk is not under their control, unnatural, unfamiliar, dreaded, unfair or very small. There is a tendency to underestimate the risk if it has an effect in the long-term future eg health risks associated with smoking. When data is lacking to estimate the risk, the outcome is uncertain.

1.1.11 Carbohydrates, proteins, lipids and alcohol all contain energy: used to be measured in calories; the SI unit is the Joule. Average person requires 8000-10000 kiloJoules per day. The Department of Health issues Dietary Reference Values to encourage balanced & healthy diets and to indicate the amount of energy which should be derived from different foods. The basal metabolic rate is the energy required to maintain life processes and varies between individuals. BMR is higher in males and people who are younger, heavier or more active. Eating fewer kilojoules than you use results in weight loss. Eating more kilojoules than you use results in a gain in weight.

1.1.12 Carbohydrates are a large family of compounds with the general formula Cx(H20)n
monosaccharides (monomers) single sugar units glucose used in respiration

fructose

found in fruit & honey

galactose

found in lactose

(all the above are hexose sugars: C6H12O6)

disaccharides

2 single sugar units combined

maltose (2 glucose molecules)

found in germinating seeds eg barley

sucrose (glucose and fructose)

crystals used in cooking

lactose (glucose and galactose)

sugar found in milk

oligosaccharides

3-10 sugar units

found in vegetables eg leeks, lentils, beans

polysaccharides (polymers)

long chains of glucose molecules

starch

25% amylose (unbranched & spiral)

starch is found stored in plants: compact and insoluble with little osmotic effect.

75% amylopectin (branched)

glycogen

branched

stored in animals and bacteria

Cellulose is also a polysaccharide long chains of a slightly different form of glucose. Make sure you can recognise the structural formulae for glucose, maltose, fructose and galactose molecules see pages 32 and 33

1.1.13 When monosaccharides join together, they are linked by a glycosidic bond. This is formed by a condensation reaction during which water is given off. Glycosidic bonds are broken in hydrolysis. Water is required for the reaction to take place.

1.1.14 Lipids contain the elements carbon, hydrogen and oxygen. They are insoluble in water. They provide twice as much energy as carbohydrates and supply the body with essential fatty acids. Vitamins are often found dissolved in lipids. The most common type are triglycerides: made up of 3 fatty acids joined to 1 glycerol:
G L Y C E R O L

When the molecules join together, a condensation reaction takes place.

fatty acid fatty acid fatty acid

Ester bonds are formed.

Saturated fatty acids contain the maximum number of hydrogen atoms and no carbon-carbon double bonds. Found in animal fats and dairy products. Monounsaturated fats contain 1 double bond eg in olive oil. Polyunsaturated fats contain a larger number of double bonds eg vegetable and fish oils. If one of the fatty acids in a triglyceride is replaced with a phosphate group, a phospholipid is formed. These molecules make up part of the cell membrane.

Cholesterol is a short lipid molecule with a structure very different to a triglyceride. Important for cell membranes, sex hormones and bile salts. Found in food, associated with saturated fats.

1.1.15

Body mass index (BMI) is a method of classifying body weight relative to height. body mass / kg BMI = height2 / m2 Normal range is around 20. Less than this is underweight and over 30, obese. 20% of the population are obese excess dietary fat and inactivity are the likely causes. Obesity increases the risk of cardiovascular disease and Type II diabetes.

1.1.16 It is estimated that around 46% of deaths from coronary heart disease in the UK are due to blood cholesterol levels of more than 5.2 mmol per litre. Insoluble cholesterol is transported combined with proteins to form soluble lipoproteins. high-density lipoproteins or HDLs contain more protein and transport unsaturated fats to the liver where they are broken down reduce blood cholesterol deposition

low-density lipoproteins or LDLs (the main blood cholesterol carriers)

associated with saturated fats

overload membrane receptors and reduce cholesterol absorption from the blood associated with the formation of atherosclerotic plaques

Saturated fats also reduce the activity of LDL membrane receptors and therefore increase blood cholesterol levels. Eating both monounsaturated and polyunsaturated fats reduces the level of LDLs in the blood

1.1.17 Practical on the effect of caffeine on heart rate in Daphnia.

1.1.18 A persons risk of developing coronary heart disease can be reduced by:
DIET

should be energy balanced reduced cholesterol, saturated fats and salt more polyunsaturated fats, including omega-3 fatty acids found in oily fish more fruit and vegetables containing soluble fibre and antioxidants include food with added sterols and stanols (plant compounds which reduce cholesterol)
EXERCISE

A person who is physically active is much more likely to survive a heart attack or stroke.
STOP SMOKING

After stopping, the risk of CHD is almost halved after one year.
CONTROLLING BLOOD PRESSURE

Can be achieved by changes in lifestyle and diet, but drugs such as antihypertensives and blockers can be used.

1.2.1 In larger organisms, there is a reduced surface area to volume ratio, which presents a problem for the exchange of substances between the organism and its environment. The respiratory system provides a large surface area to volume ratio to ensure efficient gas exchange. Ficks law explains that: surface area x difference in concentration Rate of diffusion thickness of the gas exchange surface In the respiratory system: the alveoli provide a large surface area circulation of blood through numerous capillaries and efficient ventilation of the lungs maintains an effective concentration gradient flattened epithelial cells making up the walls of the alveoli and capillaries (which are very close together) reduce the distance gases travel between air and blood

Look at Figure 2.2A on page 52 to revise the structure of the respiratory system.

1.2.2. The cell membrane is made up of a phospholipid bilayer. The phosphate head of the phospholipid is polar and attracts water it is hydrophilic. The fatty acid tails are hydrophobic.
phosphate group

G L Y C E R O L

fatty acid fatty acid

In the cell membrane, the hydrophobic tails face inwards to avoid water, while the hydrophilic heads point outwards. In the phospholipid bilayer are other molecules: proteins: some are fixed, while others move around. May be enzymes, carriers or channels. cholesterol: reduces the fluidity of membrane by preventing movement of phospholipids. glycoproteins: (polysaccharide + protein) cell recognition and receptors glycolipids: (polysaccharide + lipid) cell recognition and receptors

1.2.3 Practical on the effect of temperature on membrane structure.

1.2.4 Osmosis is the movement of water molecules from an area where they are in high concentration to an area of lower concentration through a partially permeable membrane. Water molecules form hydrogen bonds with solutes, reducing the movement of the water molecules.

1.2.5 Diffusion is the movement of molecules or ions from an area of their high concentration to an area of their low concentration. It will continue until the substance is evenly distributed throughout the whole volume. Small uncharged molecules eg oxygen and carbon dioxide can diffuse across the cell membrane. Hydrophilic molecules and ions cannot penetrate the hydrophobic phospholipid tails. Diffusion is made easier, or facilitated, by proteins: channel proteins span the membrane and have a specific shape to transport specific particles. Some are gated they can be open or closed. carrier proteins bind with the molecule or ion, change shape and transport the particle across the membrane. Movement can occur in either direction, depending on the concentration gradient. Diffusion, facilitated diffusion and osmosis are passive they do not require energy.

In active transport, ATP supplies energy to change the shape of a carrier protein molecule when substances are moved against the concentration gradient ie from low to high concentration. Exocytosis involves the bulk transport of substances out of the cell eg insulin into the blood. Vesicles (little membrane sacs) fuse with the cell surface membrane and the contents are released. Endocytosis is the reverse: substances are taken into a cell by the creation of a vesicle.

1.2.6 DNA is a type of nucleic acid called deoxyribonucleic acid. It is a long chain molecule made up of nucleotides.

One nucleotide is made up of: -a 5 carbon sugar -a phosphate group -an organic base

Nucleotides link together by condensation reactions between the sugar of one and the phosphate group of the other. Each nucleotide in DNA has 1 of 4 different bases: Adenine, Guanine, Cytosine or Thymine. Two long polynucleotide strands, running in opposite directions, are held together by hydrogen bonds between the bases. This ladder-like structure, with alternating sugar and phosphate molecules forming the uprights and pairs of bases forming the rungs, is then twisted in a helix.

The bases pair in a particular way, based on their shape and chemical structure:
adenine thymine guanine cytosine

A & T pair forming 2 hydrogen bonds hydrogen bonds

C & G pair forming 3

RNA (ribonucleic acid) is made up a single strand of nucleotides. In these the sugar is called ribose and the bases are adenine, guanine, cytosine and uracil (not thymine). There are 3 types of RNA: messenger RNA (mRNA) transfer RNA (tRNA) ribosomal RNA (rRNA)

1.2.7 The sequence of bases in the DNA of the chromosomes acts as a coded recipe for making proteins.

TRANSCRIPTION

occurs in the nucleus, catalysed by RNA polymerase DNA helix unwinds, hydrogen bonds break and RNA nucleotides pair with the exposed bases on the template strand of the DNA 3 bases on the DNA (triplet) are transcribed into 3 bases on the RNA (codon) the messenger RNA (mRNA) molecule formed enters the cytoplasm through a nuclear pore

TRANSLATION

occurs on the ribosomes of the rough endoplasmic reticulum the beginning of the sequence is always marked with the start codon AUG which codes for the amino acid methionine a transfer RNA molecule (tRNA) with 3 bases exposed (an anticodon) pairs with a specific codon on the mRNA attached to the tRNA molecule is a specific amino acid the amino acids, arranged in the order dictated by the mRNA codons, are joined with peptide bonds to form a polypeptide a stop codon signals the last amino acid in the polypeptide chain

base triplets in DNA transcription (in the nucleus) codons in mRNA translation (on the ribosomes) amino acid sequence in polypeptide chain See Figure 2.36 on page 79 for a more detailed explanation.

1.2.8 The genetic code in the DNA making up the chromosomes acts as a code for protein synthesis. It dictates the amino acids required to make the protein and the order in which they should be bonded together. 3 bases code for 1 amino acid and these base triplets are non-overlapping. The code is degenerate: there is more than 1 triplet for each amino acid. A gene is a sequence of bases on a DNA molecule (ie a short section of a chromosome) coding for a sequence of amino acids in a polypeptide chain.

1.2.9 Structure of an amino acid:

R H
amine group

O N C C OH

carboxylic acid group

H 20 different amino acids are found commonly in the proteins of living organisms. The amino acid monomers join together in a condensation reaction to form peptide bonds. The polymer formed is called a polypeptide. Proteins are made up of one or more polypeptides.

Primary structure Secondary structure

the sequence of amino acids in the polypeptide chain the shape the molecule folds into as a result of hydrogen bonding between the C=O of one amino acid and the N-H of the amine group of another an helix or a pleated sheet the final 3D shape of the molecule, held together by ionic bonds, interactions between hydrophilic R groups and strong disulphide bridges between R groups containing sulphur if the protein contains more than one polypeptide chain

Tertiary structure

Quaternary structure

Fibrous proteins remain as long chains, often with several polypeptides cross-linked for extra strength. They are insoluble and are important structural molecules eg keratin, collagen. Globular proteins are folded into a compact spherical shape. They are soluble and are important metabolic molecules eg enzymes, antibodies and some hormones.

1.2.10 Enzymes are globular proteins which act as catalysts. They speed up chemical reactions by lowering the activation energy, and remain unchanged at the end of the reaction. Part of the molecule is a specifically shaped active site, into which a substrate fits to form an enzyme-substrate complex. The lock and key hypothesis suggested an exact match between the shapes of the substrate and active site. The induced fit hypothesis describes the active site moulding around the substrate once it is in place. 1.2.11 An increase in temperature (and therefore an increase in the kinetic energy of the molecules) increases the likelihood of a collision between enzyme and substrate molecules. The rate of reaction increases. Beyond the optimum temperature, the increased vibration of the atoms in the protein molecule break the bonds maintaining the tertiary structure. The active site of the enzyme is irreversibly destroyed or denatured. pH changes around the enzymes optimum pH, alter the charge distribution in the active site, reducing the compatibility of enzyme and substrate. Tertiary structure bonds are again affected and extreme changes will denature the enzyme. An increase in either substrate or enzyme concentration will increase the rate of reaction until the other acts as a limiting factor.

1.2.12
DNA copying or replication must occur before a cell divides to ensure that daughter

cells receive a copy of the genetic code. DNA double helix unwinds hydrogen bonds between the base pairs break free DNA nucleotides line up along side each strand hydrogen bonds form between complementary bases DNA polymerase links adjacent nucleotides 2 identical DNA double helices are formed by this semi-conservative replication

1.2.13 Sometimes, the DNA replication does not work perfectly an incorrect base may slip into place.This is called a gene mutation. If this occurs in a sperm or ovum which ultimately forms a zygote, every cell in the new organism will carry the mutation. If the mutation occurs in non-coding DNA, it will have no effect. In a gene, it will cause an error in the mRNA and an incorrect amino acid may be included in the polypeptide chain causing a genetic disorder eg sickle cell anaemia. A number of different mutations can affect the gene coding for the cystic fibrosis transmembrane regulatory (CFTR) protein channels, which allow chloride ions to pass through the membrane. The most common mutation is a deletion of 3 nucleotides resulting in the loss of the 508th amino acid in the protein. The altered protein may not open, or may reduce the flow of chloride ions through the channel.

1.2.14 Human cells contain 23 pairs of homologous chromosomes. At a particular position or locus on each of the pair is found a gene for a particular characteristic. Different forms of the same gene are called alleles. If a cell contains two copies of an allele, their genotype is described as homozygous. Different alleles at a locus result in a heterozygous condition. The characteristic resulting from the genotype is the organisms phenotype.

A recessive allele (represented by a small case letter eg f) is only expressed in the homozygous condition. A dominant allele (represented by the same letter in the upper case eg F) will be expressed in the phenotype in either the homozygous or heterozygous condition. See page 85 on how to set out a monohybrid genetic cross. In the 19th century, Gregor Mendel initiated the study of genetics using the garden pea. He established patterns of inheritance of a number of phenotypes including height and the morphology of seeds. In humans, recessive mutations of single genes result in: cystic fibrosis: mucus which is too viscous thalassaemia: abnormal haemoglobin formation albinism: lack of pigment production

1.2.15 In the respiratory system, the amount of water in the mucus produced must be regulated: too runny and it floods the airway too viscous (sticky) and it cant be cleared by the cilia This is controlled by the transport of sodium and chloride ions across the epithelial cells. Water follows the ions because of osmosis.

See Figure 2.19 on page 67 for a full explanation of why in cystic fibrosis, the mucus is too viscous.

Summary: the CFTR channel is non-functional, so chloride ions cannot pass out of the cell towards the lumen the sodium ion channels are open and sodium ions are continually absorbed from the mucus water is drawn out of the mucus by osmosis and it becomes much too viscous The cilia cannot move the viscous mucus it builds up in the airway and becomes infected. Because of low oxygen levels in the mucus, anaerobic bacteria thrive. White blood cells invade the mucus, then die and release DNA making it even more viscous. Mucus blocks the bronchioles, reducing the number of ventilated alveoli. This reduces the efficiency of gas exchange. In the digestive system, the viscous mucus blocks the pancreatic duct. Enzymes are not released into the small intestine and food is therefore not digested effectively. Undigested food cannot be absorbed and energy is lost in the faeces (malabsorption syndrome).

CF also affects the reproductive system: in females, a mucus plug blocks the cervix in males, the vas deferens leading from the testes is either blocked or missing

1.2.16 Gene therapy attempts to alter the genotype and phenotype of target cells: normal alleles inserted into target cell using viruses or liposomes (see below) normal form of gene transcribed and translated functioning protein produced by target cell Using viruses: allele. translation. Produces side effects eg headache, fever, increased heart rate. Using liposomes: Normal allele inserted into a plasmid, which is then combined with the liposome (a spherical phospholipid bilayer). Patient breathes in aerosol containing the liposomes and the DNA is carried into the target cells. Viral DNA for replication is deleted and replaced with normal A gene promoter is required to initiate transcription and

In CF trials, chloride transport in respiratory epithelial cells has been restored to 25% of normal. Treatment is temporary as epithelial cells are constantly lost. Altering specific somatic cells (body cells) like this is permitted in the UK. Altering germ cells (sperm and eggs) is known as germ line therapy and is not legal.

1.2.17 Practical on using gel electrophoresis to separate DNA fragments.

Electrophoresis is a technique which can separate DNA fragments of different lengths: restriction endonucleases cut the DNA into fragments at specific base sequences fragments placed on a gel connected to electrodes fragments separate according to their size and charge fragments are transferred to a nylon filter (Southern blotting) strands of the DNA helix are separated by an alkaline buffer the desired sequence is identified using a gene probe image obtained by placing the radioactive probe next to X-ray film

A gene probe is a short, radioactive base sequence, complementary to the base sequence of the gene.

See Figure 2.44 on page 91 for a full explanation of this technique.

There is a large number of mutations responsible for the abnormal CFTR protein in cystic fibrosis. A gene probe identifies one specific base sequence. While a positive result will confirm a diagnosis, a negative result must be treated with caution!

1.2.19 Uses of genetic screening: identifying carriers: heterozygotes with normal phenotypes. This can be followed up with counselling to help potential parents make a decision. embryo testing: a sample of cells from a developing fetus can be analysed. The sample is obtained either by amniocentesis (withdrawing amniotic fluid around 15-17 weeks of pregnancy) or by chorionic villus sampling (cells removed from the placenta at 8-12 weeks). Both techniques carry a risk of miscarriage. pre-implantation genetic diagnosis: used to test an embryo created by IVF.

1.2.20 Genetic screening has obvious advantages, but is a contentious business! You need to consider the social, ethical, moral and cultural issues related to the process.