Name two methods of testing a fetus that is already in the uterus.

Amniocentesis and chorionic villus sampling.

Describe amniocentesis.

A needle is passed through the abdominal wall at about the fifteenth week of pregnancy and a sample of amniotic fluid is withdrawn, and the fetal cells in it are cultured so that their chromosomes and DNA can be examined.

Give one advantage of chorionic villus sampling over amniocentesis.

It can be carried out several weeks earlier in the pregnancy, so a decision can be reached sooner.

Give one risk shared by both methods of prenatal testing.

Both slightly increase the chance of a miscarriage.

Eduqas A-Level Biology A400QS

Biological Molecules

Topic overview Inorganic ions and the properties of water Monosaccharides and disaccharides Polysaccharides, storage and structure Lipids, triglycerides and phospholipids Amino acids and protein structure Condensation, hydrolysis and the food tests

Cell Structure and Organisation

Topic overview The nucleus and the endomembrane system Mitochondria, chloroplasts and other organelles Prokaryotic cells and viruses Cell theory, microscopy and measuring cells Comparing cells and the levels of organisation

Cell Membranes and Transport

Topic overview The fluid-mosaic model Factors affecting membrane permeability Diffusion and facilitated diffusion Osmosis and water potential Active transport and bulk transport Determining water potential in practice

Enzymes

Topic overview Enzymes as biological catalysts The active site and induced fit Temperature, pH and buffers Substrate and enzyme concentration Inhibition and immobilised enzymes

Nucleic Acids and Their Functions

Topic overview Nucleotides and the structure of ATP ATP as the energy currency of the cell The structure of DNA Comparing DNA and RNA Semi-conservative replication The genetic code Transcription Translation and the fate of the polypeptide Extracting DNA from living material

Importance of ATP

Topic overview ATP synthetase and the synthesis of ATP Chemiosmosis and the electrochemical gradient Proton pumps and the electron transport chain Membranes of mitochondria and chloroplasts compared Investigating dehydrogenase activity

Photosynthesis

Topic overview Chloroplast structure and the distribution of chloroplasts Photosynthetic pigments and chromatography Photosystems and light harvesting Non-cyclic and cyclic photophosphorylation The light-independent stage Limiting factors and the rate of photosynthesis Nitrogen, magnesium and plant growth

Respiration

Topic overview The need for respiration and glycolysis The link reaction and the Krebs cycle Reduced NAD, FAD and oxidative phosphorylation The energy budget of aerobic and anaerobic respiration Respiratory substrates and investigating respiration in yeast

Microbiology

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Population Size and Ecosystems

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Human Impact on the Environment

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Classification and Biodiversity

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Mitosis and Meiosis

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Sexual Reproduction in Humans

Topic overview The reproductive systems and the histology of testis and ovary Spermatogenesis and oogenesis Intercourse, fertilisation and implantation The menstrual cycle and its hormonal control The placenta, birth and lactation

Sexual Reproduction in Plants

Topic overview Flower structure and the contrast between wind and insect pollination The development of pollen grains and ovules Pollination and double fertilisation The formation and structure of seed and fruit Germination of Vicia faba and the action of gibberellin

Inheritance

Topic overview Alleles, monohybrid inheritance and codominance Dihybrid inheritance and linkage The chi squared test and testing genetic ratios Sex linkage, haemophilia and Duchenne muscular dystrophy Mutation, mutagens and epigenetics

Variation and Evolution

Topic overview Genetic and environmental sources of variation Investigating continuous variation and the t test Competition and selective agencies Gene pools, genetic drift and selection The Hardy-Weinberg principle Isolation, speciation and Darwin's theory of evolution

Application of Reproduction and Genetics

Topic overview The Human Genome Project, other sequenced genomes and genomics in healthcare Screening embryos, stem cells and the ethical issues Genetic fingerprinting, PCR and electrophoresis in forensic work Recombinant DNA and the production of human insulin Genetically modified crops and gene therapy

Adaptations for Gas Exchange

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Adaptations for Transport

Topic overview Vascular systems compared across animal groups The mammalian heart and blood vessels The cardiac cycle and its control Blood, haemoglobin and dissociation curves The Bohr effect, chloride shift and tissue fluid The root and the uptake of water The endodermis and the entry to the xylem Xylem, transpiration and cohesion-tension The potometer and xerophytes and hydrophytes Phloem and translocation

Adaptations for Nutrition

Topic overview Modes of nutrition Saprotrophic nutrition Holozoic nutrition and the unicellular gut From a sac-like gut to a tube gut The human gut and the effect of diet Herbivores, carnivores and parasites

Homeostasis and the Kidney

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The Nervous System

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Immunology and Disease: Disease and Its TransmissionImmunology

Topic overview The language of infection and disease The human body as a host Cholera and tuberculosis Smallpox, influenza and viral pathogenicity Malaria and its transmission

Immunology and Disease: AntibioticsImmunology

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Immunology and Disease: The Immune ResponseImmunology

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Human Musculoskeletal Anatomy: Skeletal TissuesMusculoskeletal

Topic overview Cartilage and its three types The composition and functions of compact bone Bone remodelling and the Haversian system Rickets, osteomalacia, osteoporosis and brittle bone disease The structure of skeletal muscle The sliding filament theory Fast and slow twitch fibres, and energy for contraction

Human Musculoskeletal Anatomy: Structure and Function of the SkeletonMusculoskeletal

Topic overview The axial and appendicular skeleton The girdles and the bones of the limbs The vertebral column and its vertebrae Fractures and postural deformities The functions of the skeleton

Human Musculoskeletal Anatomy: JointsMusculoskeletal

Topic overview Types of joint in the human body The structure of a synovial joint Osteoarthritis and rheumatoid arthritis Joints as levers Antagonistic muscle action in the forelimb

Neurobiology and Behaviour: The BrainNeurobiology

Topic overview The structure of the human brain The functions of the cerebrum, cerebellum and medulla oblongata The hypothalamus and the control of the endocrine system The sympathetic and parasympathetic nervous systems Sensory and motor areas, the homunculus and language

Neurobiology and Behaviour: NeuroscienceNeurobiology

Topic overview Non-invasive study of the brain: CT and MRI Functional imaging: fMRI, PET and EEG Brain development and critical periods Neuroplasticity Gene expression, brain development and mental illness

Neurobiology and Behaviour: BehaviourNeurobiology

Topic overview Innate behaviour: escape reflexes, kineses and taxes Habituation and imprinting Classical and operant conditioning Primate societies and the costs and benefits of group living Insect castes, dominance hierarchies, territory and courtship

Application of Reproduction and Genetics

Screening embryos, stem cells and the ethical issues

3 things to know
Component 2

Overview

Genetic screening, preimplantation genetic diagnosis and gene responsible for cystic fibrosis and describe its commonest mutation.

What you need to know

Answer each one before you reveal it.

Your recallNot started

Key term

Describe preimplantation genetic diagnosis.

Evaluation

Give two arguments against screening embryos for genetic disorders.

Key term

What is genetic screening?

Questions from this subtopic

Each one with the model answer underneath.

1
What is genetic screening?
Model answer
Genetic screening is the testing of an individual's DNA to find out whether they carry an allele associated with a disorder.
2
Describe preimplantation genetic diagnosis.
Model answer
Embryos produced by in vitro fertilisation are allowed to divide to about eight cells, a single cell is removed from each and tested for the faulty allele, and only unaffected embryos are placed in the uterus.
3
Name two methods of testing a fetus that is already in the uterus.
Model answer
Amniocentesis and chorionic villus sampling.
4
Describe amniocentesis.
Model answer
A needle is passed through the abdominal wall at about the fifteenth week of pregnancy and a sample of amniotic fluid is withdrawn, and the fetal cells in it are cultured so that their chromosomes and DNA can be examined.
5
Give one advantage of chorionic villus sampling over amniocentesis.
Model answer
It can be carried out several weeks earlier in the pregnancy, so a decision can be reached sooner.
6
Give one risk shared by both methods of prenatal testing.
Model answer
Both slightly increase the chance of a miscarriage.

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