treatment of infertility and inheritance Flashcards
Infertility
unable to achieve pregnancy despite frequent unprotected sex over the period of at least a year
Male infertility
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.
Polycystic ovarian syndrome (PCOS)
Hormonal condition where ovaries contain many partially formed follicles that fail to mature.
Eggs not released, nor fertilised
hyperprolactinemia
High levels of hormone prolactin
can occur with; pituitary tumours, hypothyroidism, PCOS
Causes lack of ovulation
early menopause (primary ovarian insufficiency)
Menopause before 40 years old
cancer treatment can also cause it.
Other factors affecting women infertility
endometriosis
Fibroids
endometriosis
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.
Fibroids
benign growths in muscular part of uterus
Only affect fertility if location distorts the uterine cavity or blocks the uterine tubes
infertility treatments allowing unassisted fertilisation
Surgery
ovulation tracking
Ovulation induction
artificial insemination
surgery
Blocked uterine tubes and sperm ducts can be opened
fibroids or endometriosis can be removed
Ovulation tracking
identification of when female is most fertile through series of blood tests
Surge in LH prior to ovulation (luteinising hormone)
ovulation induction
For: infertility due to problems with ovulation resulting from low level of hormones
medication given to lower protein, allowing ovulation
Artificial insemination
process where sperm is released into uterus by a catheter being inserted through cervix
For: low sperm count, gays, single females, ejaculation dysfunctions
assisted fertilisation
Uses reproductive technologies
Gamete IntraFalopian Transfer (GIFT)
In Vitro Fertilisation (IVF)
Gamete Intrafallopian Technologies (GIFT)
Sperm and Egg mixture injected into Fallopian tube
In Vitro Fertilisation (IVF)
When: blocked uterine tubes, ovulation disorders, endometriosis, fibroids, low sperm quality or production
IntraCytoplasmic Sperm Injection (ICSI)
Eggs collected and injected with sperm
any normal developing eggs are injected into uterus
Surgical sperm removal
unable to ejaculate
Needle retrieves sperm
Other options for pregnancy
Donor gametes or embryos
surrogacy, other woman goes through pregnancy
Other considerations
frozen embryos, for eggs not used in IVF cycle, embryos stayed is same stage until thawed.
Ultrasound
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.
Genetic analysis
amniocentesis
Chorionic villus sampling
blood tests
Amniocentesis
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
chorionic villi sampling
Obtains foetal cells from chorion using needle
carried between 9-19th week
Quicker then amniocentesis
blood tests
Able to screen for: Down syndrome, Edwards syndrome, Pataw syndrome, Turner syndrome
able at 10 weeks of pregnancy
Foetal monitoring
regular monitoring of baby’s HR
Electrocardiography
Fetoscopy
Foetal blood sampling
Biochemical analysis
DNA probes
Electrocardiography
Procedure for recording electrical changes in heart.
creates electrocardiogram (ECG)
Electrocardiogram
shows series of waves that relate to electrical impulses that occur during each beat of heart.
Identify any risk of injury to foetus
fetoscopy
Instrument used to gain information about a foetus in the uterus
identifies physical abnormalities
Foetal blood sampling
blood taken from umbilical cord or foetal blood vessel, (liver or heart)
Used to; identify chromosomal abnormalities, identifies infections
DNA probes
Segment of DNA used that is structurally identical to gene being tested
2 principles of inheritance
- The various hereditary characteristics were controlled by genes that occurred in pairs.
- During formation of gametes, pairs of factors seperate
Principle of segregation
principle that the alleles for a trait are separated during the formation of gametes
Genotype
combination of alleles for a particular trait
Phenotype
expression of the trait determined by the genotype
Huntington’s disease
5-10 affected per 100 000
Symptoms appear after 40 years
dominant allele
Involuntary flailing movements of arms and legs, causes dementia
phenylketonuria (PKU)
Causes extreme mental retardation
recessive
Special diet of important amino acids, if begun early in child’s life, can correct the symptoms
Cystic fibrosis
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.
red-green colour blindness
Individuals unable to distinguish between two colours
recessive gene located in X chromosome
Hemizygous
no allelic counterpart, occurs with alleles in the X chromosome in males (XY)
Haemophilia
Blood clots slowly or not at all
most common in men because of X
Co-Dominance
Two alleles are equally dominant
both represented
Multiple alleles
more than 2 alleles for a characteristics
Example: ABO blood group
genetic counselling
Probability for a particular condition to show can sometimes be determined
couple can therefore determine whether to risk having a child
Electrophoresis
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
