treatment of infertility and inheritance

Question 1

Infertility

Answer 1

unable to achieve pregnancy despite frequent unprotected sex over the period of at least a year

Question 2

Male infertility

Answer 2

Semen flows into bladder, rather than urethra.
immune system may develop antibodies for their own sperm.
Blockages in male’s reproductive tract.
hormonal imbalances, affecting sex drive and production of sperm.

Question 3

Polycystic ovarian syndrome (PCOS)

Answer 3

Hormonal condition where ovaries contain many partially formed follicles that fail to mature.
Eggs not released, nor fertilised

Question 4

hyperprolactinemia

Answer 4

High levels of hormone prolactin
can occur with; pituitary tumours, hypothyroidism, PCOS
Causes lack of ovulation

Question 5

early menopause (primary ovarian insufficiency)

Answer 5

Menopause before 40 years old
cancer treatment can also cause it.

Question 6

Other factors affecting women infertility

Answer 6

endometriosis
Fibroids

Question 7

endometriosis

Answer 7

Affects 10% of women
endometrium grows outside uterus, resulting scar tissue or distortion of uterine tubes can affect fertility by blocking egg’s release or pathway through to the uterus.

Question 8

Fibroids

Answer 8

benign growths in muscular part of uterus
Only affect fertility if location distorts the uterine cavity or blocks the uterine tubes

Question 9

infertility treatments allowing unassisted fertilisation

Answer 9

Surgery
ovulation tracking
Ovulation induction
artificial insemination

Question 10

surgery

Answer 10

Blocked uterine tubes and sperm ducts can be opened
fibroids or endometriosis can be removed

Question 11

Ovulation tracking

Answer 11

identification of when female is most fertile through series of blood tests
Surge in LH prior to ovulation (luteinising hormone)

Question 12

ovulation induction

Answer 12

For: infertility due to problems with ovulation resulting from low level of hormones
medication given to lower protein, allowing ovulation

Question 13

Artificial insemination

Answer 13

process where sperm is released into uterus by a catheter being inserted through cervix
For: low sperm count, gays, single females, ejaculation dysfunctions

Question 14

assisted fertilisation

Answer 14

Uses reproductive technologies
Gamete IntraFalopian Transfer (GIFT)
In Vitro Fertilisation (IVF)

Question 15

Gamete Intrafallopian Technologies (GIFT)

Answer 15

Sperm and Egg mixture injected into Fallopian tube

Question 16

In Vitro Fertilisation (IVF)

Answer 16

When: blocked uterine tubes, ovulation disorders, endometriosis, fibroids, low sperm quality or production

Question 17

IntraCytoplasmic Sperm Injection (ICSI)

Answer 17

Eggs collected and injected with sperm
any normal developing eggs are injected into uterus

Question 18

Surgical sperm removal

Answer 18

unable to ejaculate
Needle retrieves sperm

Question 19

Other options for pregnancy

Answer 19

Donor gametes or embryos
surrogacy, other woman goes through pregnancy

Question 20

Other considerations

Answer 20

frozen embryos, for eggs not used in IVF cycle, embryos stayed is same stage until thawed.

Question 21

Ultrasound

Answer 21

inaudible, high frequency sound waves to produce image of foetus
Probe placed on abdomen of women
images displayed on computer
Used for: confirming pregnancy, estimating stage of pregnancy, number of foetus, monitor growth of foetus.
cant detect abnormalities.

Question 22

Genetic analysis

Answer 22

amniocentesis
Chorionic villus sampling
blood tests

Question 23

Amniocentesis

Answer 23

carried out between 16-20th week
Ultrasound to guide needle into amniotic cavity
10-20ml removed
Living cells floating in fluid are examined
Detects birth defects

Question 24

chorionic villi sampling

Answer 24

Obtains foetal cells from chorion using needle
carried between 9-19th week
Quicker then amniocentesis

Question 25

blood tests

Answer 25

Able to screen for: Down syndrome, Edwards syndrome, Pataw syndrome, Turner syndrome able at 10 weeks of pregnancy

Question 26

Foetal monitoring

Answer 26

regular monitoring of baby’s HR Electrocardiography Fetoscopy Foetal blood sampling Biochemical analysis DNA probes

Question 27

Electrocardiography

Answer 27

Procedure for recording electrical changes in heart. creates electrocardiogram (ECG)

Question 28

Electrocardiogram

Answer 28

shows series of waves that relate to electrical impulses that occur during each beat of heart. Identify any risk of injury to foetus

Question 29

fetoscopy

Answer 29

Instrument used to gain information about a foetus in the uterus identifies physical abnormalities

Question 30

Foetal blood sampling

Answer 30

blood taken from umbilical cord or foetal blood vessel, (liver or heart) Used to; identify chromosomal abnormalities, identifies infections

Question 31

DNA probes

Answer 31

Segment of DNA used that is structurally identical to gene being tested

Question 32

2 principles of inheritance

Answer 32

1. The various hereditary characteristics were controlled by genes that occurred in pairs. 2. During formation of gametes, pairs of factors seperate

Question 33

Principle of segregation

Answer 33

principle that the alleles for a trait are separated during the formation of gametes

Question 34

Genotype

Answer 34

combination of alleles for a particular trait

Question 35

Phenotype

Answer 35

expression of the trait determined by the genotype

Question 36

Huntington’s disease

Answer 36

5-10 affected per 100 000 Symptoms appear after 40 years dominant allele Involuntary flailing movements of arms and legs, causes dementia

Question 37

phenylketonuria (PKU)

Answer 37

Causes extreme mental retardation recessive Special diet of important amino acids, if begun early in child’s life, can correct the symptoms

Question 38

Cystic fibrosis

Answer 38

Recessive allele causes chest infections and affects digestive system. Those with disease given a diet low in fat and high in carbohydrate and protein, but doesn’t cure disease.

Question 39

red-green colour blindness

Answer 39

Individuals unable to distinguish between two colours recessive gene located in X chromosome

Question 40

Hemizygous

Answer 40

no allelic counterpart, occurs with alleles in the X chromosome in males (XY)

Question 41

Haemophilia

Answer 41

Blood clots slowly or not at all most common in men because of X

Question 42

Co-Dominance

Answer 42

Two alleles are equally dominant both represented

Question 43

Multiple alleles

Answer 43

more than 2 alleles for a characteristics Example: ABO blood group

Question 44

genetic counselling

Answer 44

Probability for a particular condition to show can sometimes be determined couple can therefore determine whether to risk having a child

Question 45

Electrophoresis

Answer 45

DNA pieces placed on a bed of semi-solid gel and an electric current is passed through the gel. DNA, negatively charged, moves through gel towards positive electrodes. Smaller pieces more faster results in pattern of bands that look similar to barcode, known as a DNA finger print or DNA profile. Marker-segment of DNA with known characteristics