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Week 8 Nurs 210 - Week 8 Lecture
Outline
Health Assessment (Liberty University)
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Presentation Three
Book
●Reproductive Technologies
○ Replacing Mitochondria
○ Savior Siblings and More
○ Infertility and Subfertility
- Male
- Female
○ The Case of the Round Headed Sperm
○ Assisted Reproductive Technologies
○ Donated Sperm
- Intrauterine Insemination
○ A Donated Uterus
- Surrogate Motherhood
○ In Vitro Fertilization
○ Gamete and Zygote Intrafallopian Transfer
○ Oocyte Banking and Donation
○ Removing and Using Gametes after Death
○ Preimplantation Genetic Diagnosis
○ Sequential Polar Body Analysis
○ Extra Embryos
●Summary
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○ Assisted reproductive tech (ART) replaces what is missing in
reproduction using laboratory procedures and people other than the infertile
couple
○ Infertility is the inability to conceive a child after a year of unprotected
intercouse. Subfertile individuals or couples manufacture gametes but take longer
than usual to conceive
○ Causes of infertility in the male may include low sperm count, a malfunctioning
immune system, a varicose vein in the scrotum, structural sperm defects, drug
exposure vasectomy reversal and abnormal hormone levels.
Mutation may impair fertility
○ Women- absent or irregular ovulation blocked uterine tube an
inhospitable or misshapen uterus antisperm secretions or lack of sperm
attracting biochemicals. Early preg loss due to abnormal chromosome # is
more common in older women and may appear to be infertility
○ In intrauterine insemination IUI donor sperm are placed into a woman's
reproductive tract in a clinical setting
○ A gestational and genetic surrogate mother provides her oocyte. Then
intrauterine insemination is performed with sperm from a man whose
partner cannot conceive or carry a fetus. The surrogate provides her
uterus for 9 months. A gestational only surrogate mother receives a
fertilized ovum that resulted from IVF of a secondary oocyte by a sperm
that came from the couple who asked her to carry
○ In IVF oocytes and sperm join in a dish fertilized ova, divide a few
times and embryos are placed in the woman’s body. Circumventing
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blocked tubes or malfunctioning sperm. Intracytoplasmic sperm injection
introduces immature or nonmotile sperm into oocytes
○ Embryos can be frozen and thawed and then complete development
when placed in a woman’s uterus
○ Gamete intrafallopian transfer introduces oocytes and sperm into a
uterine tube after a blockage fertilization occurs in the woman. Zygote
intrafallopian transfer places an early embryo in a uterine tube
○ Oocytes can be frozen and stored. In embryo adoption a woman
undergoes IUI a week later the embryo is washed out of her uterus and
put into the reproductive tract of the woman whose partner donated the
sperm
○ Seven celled embryos can develop normally if a blastomere is removed
at the 8 cell stage and cleared for abnormal chromosomes or genes- this is
preimplantation genetic diagnosis (PGD
○ Sequential polar body analysis infers absence of a mutation in a
fertilized ovum by checking a second polar body
○ Extra fertilized ova and early embryos generated in IVF are used
donated to couples stored donated for research or discarded they enable
researchers to study aspects of early human development that they could
not investigate in other ways
●Genomics
○ 100,000 Genomes and Counting
○ From Genetics to Genomics
○ Beginnings in Linkage Studies
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○ Sequencing and Human Genome
○ Analysis of the Human Genome
○ Improving Speed and Coverage
○ The Goal: Annotation
○ A Glimpse of Pre history: comparative genomes
○ Limitations of exome and genome sequencing
○ Personal Genome sequencing
○ Practical Medical Matters
○ Types of Information in Human Genomes
○ Do You Want Your Genome Sequenced?
●Summary
○ Genetic maps have increased in detail and resolution from cytogenetic and
linkage maps.
○ Positional cloning discovered individual genes by beginning with a phenotype
and gradually identifying a causative gene localizing it to part of a chromosome.
○ The human genome project began in 1990 under the direction of the DOE and
NIH. Technological advances speed and sequencing
○ Several copies of a genome are cut and the pieces sequenced overlapped and
aligned to derive the continuous sequence. For the human genome the IC used a
chromosome by chromosome approach and CG used whole genome shotgunning
○ After sequencing genomes became possible attention turned to refining the
process cataloging human variation and discovering gene functions
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○ The cost of sequencing decreased and the speed of S increased as researchers
annotated genes with information on gene function mode of inheritance and
frequency of variants and genotypes
○ Exome and genome sequencing alone will not detect copy number variants
mitochondrial DNA uniparental disomy or gene gene and gene environment
interactions
○ Genome information used in medical tests and treatments must be validated for
clinical utility (be novel or at least as useful as an existing test or treatment
○ An individual human genome sequence can confirm what is known from family
history detect disease associated recessive alleles detect genes variants that
contribute to risk of having or developing a trait or illness and predict drug
responses
○ Widespread availability of genome sequencing will raise personal as well
as societal questions
Study guide review for module 8
1. Savior siblings
a. Couple- oocyte donor
b. Cancer patient- ovarian tissue removed and frozen
c. Two years later thawed and fertilized with sperm i. Several cleavage
embryos develop- two implanted - ii. Mother of twins
d. Man paralyzed waist down- kids as well
e. Lisa and jack- daughter molly Fanconi Anemia
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i. Autosomal recessive condition-destroy bone marrow and immunity
ii. Umbilical cord stem cell transplant from a sibling could likely sure
her- no siblings-¼ chance for next kid to have the same disorder
iii. 1999 mixed sperm and oocytes in dish- 15 of the fertilized ova to
develop to the 8 cell stage- DNA probes to one cell from each
embryo
iv. Adam- summer
v. Savior sibling- conceiving and selecting a child to provide cells for a
sibling became more accepted
vi. ART replace the source of male or female gamete aid fertilization
or provide a uterus
2. Rates of infertility
a. Inability to conceive a child after a year of frequent intercourse without the use of
contraceptives
b. Subfertility- distinguish those individuals and couples who can conceive unaided
but for whom this may take longer than average
c. Seemingly endless monthly cycle or raised hopes and crushing despair
d. Declining F as a woman ages the incidence or pregnancy related problem rise
chromosomal anomalies, fetal deaths, premature births and low birth weight
e. Older fathers- are at increased risk of having children who have autism or
schizophrenia- sperm motility declines with age
f. ⅙ couples have difficulty conceiving or giving birth
g. Physical cause in 90% of cases
i. 30% male
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ii. 60% female
iii. When a physical problem is not obvious that cause- mutation or
chromosomal aberration that impair infertility in the male
iv. Unclear- in 20% of the 90% both parents have a medical condition
v. Common combination is a woman with an irregular menstrual cycle and
male with low sperm count
3. Basis of male/female infertility
a. Male
i. Easier to detect-harder to treat
ii. 4/100 in the general pop are infertile and half of them do not make any
sperm- azoospermia
iii. Difficult fathering a child bc they produce fewer than the average
20-200 million sperm cells per milliliter of ejaculate- oligospermia-several
causes
iv. Low sperm count- hormonal imbalance
v. Varicose vein in the scrotum- enlarged vein emits heat near
developing sperm- prevents them from maturing - solution surgery
vi. Most cases are genetic- of infertile men have small deletions on the Y
⅓ chromosome that remove the only copies of key genes whose products
control spermatogenesis
1. Mutation gene that encode androgen receptors or protein fertility
hormones or that regulate sperm development or motility
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2. Autosomal recessive male infertility that is unusual in that it is not
part of a syndrome
vii. If they have at least 60 million sperm cells per ejaculate fertilization is
likely eventually
viii. To speed conception a man with low sperm count can donate
sperm samples over a period of weeks at clinic
1. Kept in cold storage the pooled
2. Some of the seminal fluid is withdrawn to leave a sperm cell
concentrate which is then placed in woman- highly effective
3. Men who actually want a very sperm count- vasectomy for birth
control can use an at home test- monitor their sperm count- fewer
than 12-16 million preg unlikely
ix. Sperm quality is more important than quantity
x. Sperm cells that are unable to move or are shaped abnormally
can’t reach oocyte
xi. Inability to move may be due to hormone imbalance
xii. Misshapen- impaired apoptosis (programmed cell death) that normally
removes such sperm
xiii. The genetic package of an immobile or abnormally shaped sperm cell
can be injected into an oocyte and sometimes this leads to fertilization
xiv. Sperm that look and move normally may by unable to fertilize an
oocyte
b. Female
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i. Abnormalities in any part of the female reproductive system can cause
infertility
ii. Irregular periods making it difficult to pinpoint when conception
is most likely
iii. In average period is 28 days, ovulation usually occurs around the 14th
day after menstruation begins- most likely to conceive
iv. Irregular periods- under 30 and not using birth control- pregnancy
happens within 3-4 months
v. Can tell when she is most fertile by using an ovulation predictor test
detects a peak in the level of luteinizing hormone that precede ovulation
by a few hours
vi. Record body temp each morning 1. 0.4 - 0.6 rise in temp when
ovulation starts
vii. Sperm can survive in a woman’s body for up to 5 days but the
oocyte is only viable for 24 to 48 hrs after ovulation
viii. Hormonal imbalance that usually underlines irregular ovulation has
various causes
1. Tumor in ovary or pituitary gland in the brain that controls
the reproductive system
2. Underactive thyroid gland
3. Used of steroid based drugs- cortisone
4. Too much prolactin- hormone that promotes milk production
and suppresses ovulation in new mothers she will no ovulate
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ix. Fertility drugs can stimulate ovulation- also cause superovulate
1. Producing and releasing more than one oocyte each month
x. Clomiphene- raises the chance of having twins from 1-2 % to 4-6%
xi. If woman’s ovaries are completely inactive or absent- preg ONLY
if she uses a donor oocyte
xii. Reduced ovarian reserve- too few oocytes
1. Typically discovered when the ovaries do not respond to
fertility drugs
2. Signs- ovary with too few follicles or elevated levels of follicle
stimulating hormone on the 3rd day of period
xiii. Uterine tube- common site of infertility bc fertilization occurs in open
tube
1. Blockage can prevent sperm from reaching the oocyte or entrap a
fertilized ovum keeping it from a descending into the uterus
2. If an embryo begins developing in a blocked tube and it not
removed and continues to enlarge- tube can burst and woman
die
3. Tubal pregnancy- ectopic pregnancy
4. Blocked due to birth defect or infection such as pelvic
inflammatory disease- may not know tubes are blocked until
difficult time conceiving-solution surgery
xiv. Excessive tissue growing in the uterine lining- inhospitable to embryo
1. Tissue benign tumors called fibroids or areas of thickened
lining from a endometriosis
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a. Can hamper conception - after birth no cramps
2. Tissue can grow outside of the uterus to- abdominal cavity
3. In response to the hormonal cues to menstruate the excess lining
bleeds causing cramps
xv. Secretions in the vagina and cervix may be hostile to sperm
xvi. Cervical mucus that is thick and sticky- infection can entrap sperm
keeping them from moving far enough to encounter an oocyte
xvii. Vaginal secretion may be so acidic or alkaline that they weaken
or kill sperm
xviii. Douching daily with an acidic solution such as vinegar or an alkaline
solution such as bicarbonate-alter pH of the vagina so that is some cases it
is more receptive to sperm cells
xix. Too little mucus can prevent conception too
1. Treated with low doses of oral estrogen
2. Sometimes mucus- has antibodies that attack sperm
xx. Infertility may also result if the oocyte does not release sperm
attracting biochemicals
xxi. Age- older women are likely to produce oocytes that have an
abnormal chromosome number which often causes spontaneous abortion
1. Misaligned spindle fibers when the second meiotic division begins
causing extra/missing chromosomes
c. Assisted Reproductive Tech (ART)
d. ART- nonhumans
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i. US more than 1% of app 4 million births a year are from
ART worldwide 250,000
ii. Cost thousands of dollars and are not typically covered by health
insurance
iii. DONATE SPERM_INTRAUTERINE INSEMINATION (IUI)
1. Places or injects washed sperm into the cervix or uterus
2. Oldest ART
3. Place donated sperm into a woman’s cervix or uterus
4. Success rate 5-15% per attempt
5. The sperm are first washed free of seminal fluid- can inflame
female tissues
6. Partner is infertile or has a mutation that the couple wished avoid -
to be a single parent without sex - lesbian
7. Select sperm from a catalog- characteristics of sperm- blood type
hair eye skin color build educational level and interest
8. Problems: if donor learns he has an inherited disease
9. Male’s role in reproductive tech are simpler than women's
10. ICSI is very helpful for men who have LSC 30% SR
iv. GAMETE AND ZYGOTE INTRAFALLOPIAN TRANSFER
1. Occurs in woman not glass dish
v. OOCYTE BANKING DONATION
4. Biblical view of conception and development
5. mentioned in the bible
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6. Luke’s perspective of conception in his record of the Christmas story
7. How long is Mary’s pregnancy after conception has occurred as recorded by Luke?
8. Surrogacy
a. DONATED UTERUS- SURROGATE
i. Help by being inseminated with man’s sperm
ii. Surrogate both genetic and the gestational mother
iii. Problem: woman may not able to predict her responses to pregnancy
and childbirth lawyer’s office months before she must give the baby
iv. Another type- lends only her uterus receiving fertilized ovum
conceived from a man and woman- embryo transfer to a host uterus
1. Gestational mother only
v. About 1,600 babies
9. IVF
a. Mixes sperm and oocyte in a dish- chemical simulate intrauterine environment to
encourage fertilization
b. IN VITRO FERTILIZATION
i. Fertilization in glass- sperm and oocyte join in a laboratory dish- then
placed in uterus
ii. IVF if her ovaries and uterus work but her uterine tubes are blocked
iii. Laparoscope which is a lit surgical instrument inserted into the
body through a small incision
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iv. Sperm that cannot readily enter the oocyte may be sucked up into a
small syringe and microinjected into the female cell- ICSI more
effective than IVF
10. technique
11. birth rate defects
12. extra embryos
a. US nearly half a million embryos derived from IVF sit in freezers some have
been there fore year
b. Donate to research- the results of experiments sometimes challenge long held
ideas
13. ICSI a. Injects immature or rare sperm into oocyte before IVF
14. GIFTa. Deposits collected oocytes and sperm in uterine tube
15. PGD
a. Searches for specific mutants allele in sampled cell of 8- celled embryo. Its
absence indicates the remaining 7-celled embryo can be nurtured and implanted in
woman and child will be free of genetic condition
b. Detects genetic and chromosomal abnormalities before pregnancy starts
c. 29% SR
d. Possibly one cell or blastomere can be removed for testing
e. Before the implanted cell is karyotyped
f. Probes disease causing genes or chromosome aberrations in an 8 celled
preimplantation embryo
16. Biology of conception
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17. syngamy as the moment of conception
18. place of conception, implantation
19. ectopic pregnancy
20. -# of days pregnancy can take place in women’s body
21. lifetime of sperm
22. Natural family planning and body temperature
23. Polar body analysis
a. May substitute for PGD and provide genetic information even earlier in
development
b. Based on the fact that meiosis completed in the female only as a secondary
oocyte is fertilized
c. If a woman is heterozygous for a mutation then an oocyte would inherit the
mutation and its associated polar bodies would inherit the wild type allele or vise
versa
d. The first polar body forms as the developing oocyte leaves the ovary
i. PB is not accessible and it would not show the effects of crossing over
ii. Second PB forms at fertilization can be tested
e. Deducing a fertilized ovum’s genotype by testing a PB- bc of Mendel’s law
of segregation if the PB associated with a fertilized ovum has a mutation that
the woman carries wild type for that gene is inferred for the second oocyte
24. Genome sequencing
25. differences among chimps and humans
26. differences among individual humans
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27. Somatic nuclear transfer
28. therapeutic cloning
29. reproduction cloning
ETHC 210 Exam 8
Liberty University
1. One in six couples in the population at large experiences infertility.
a. TRUE
2. The bible never mentions conception.
a. FALSE
3. Which of the following is true about intracytoplasmic sperm injection (ICSI)?
a. 1976 Hamsters
b. 1995 Human babies born following ICIS
c. Sperm that cannot readily enter the oocyte may be sucked up into a tiny syringe
and microinjected into the female cell
d. More effective than IVF alone and has become standard
e. Very helpful of men who have low sperm count or many abnormal sperm
f. Makes fatherhood possible for men who cannot ejaculate- suffered spinal
cord injuries
g. Performed on thousands of men with about 30% SR
h. Two to five days after sperm wash over the oocyte in the dish or are injected
into them a blastocyst is transferred to the uterus. If the hormone human
chorionic
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gonadotropin appears in the woman’s blood a few days later and its level rises
she is pregnant
4. Implantation involves the fusion of the sperm with the uterine wall.
a. TRUE
5. In this version of assisted reproduction the sperm and egg are fertilized by IVF and then
re-deposited into a fallopian tube.
a. GIFT
6. Conception;
a. Normally takes place in the fallopian tubes but implantation occurs several days
later in the uterus
7. IVF often involves the conception of multiple embryos and some are frozen and the
longest stored embryo which has been successfully revived is 13 years.
a. TRUE
8. Sequential polar body analysis involves looking at the chromosomes and genes in the
polar body that results from the completion of oocyte meiosis at fertilization.
a. TRUE
9. Conception in the bible is mentioned as early as Genesis.
a. TRUE
10. Which medical doctor in the Bible mentions conception and times the birth of both John
the Baptist and Jesus as nine months from conception.
a. LUKE
11. One way to detect ovulation in the human female is to record body temperature each
morning.
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a. TRUE
12. During fertilization the nuclei of the sperm and egg are together within the egg and then
fuse. Thus the moment of conception is called?
a. FORM A DIPLOID- ZYGOTE Conception
13. Human development in the womb is not mentioned in the bible.
a. FALSE
14. The oldest assisted reproductive technology is intrauterine insemination.
a. TRUE
15. It is possible for a baby to be born using IVF and a technique called somatic nuclear
transfer. Somatic nuclear transfer involves removal of a nucleus from a donor egg and
reinsertion of the nucleus from the mother to be. Then the new egg is fertilized by the
father’s sperm. Remembering that mitochondrial DNA can also be found in an egg,
how many <genetic= parents would this baby have?
a. 3???
16. Most cases of male infertility are genetic.
a. TRUE
17. IVF literally means in-vitro fertilization which is translated fertilization in glass.
a. TRUE
18. Which of the following is true about the <savior siblings= idea for treatment of genetic
based childhood disease?
a. Couple- oocyte donor
b. Cancer patient- ovarian tissue removed and frozen
c. Two years later thawed and fertilized with sperm
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i. Several cleavage embryos develop- two implanted
ii. Mother of twins
d. Man paralyzed waist down- kids as well
e. Lisa and jack- daughter Molly Fanconi Anemia
i. Autosomal recessive condition-destroy bone marrow and immunity
ii. Umbilical cord stem cell transplant from a sibling could likely sure
her- no siblings-¼ chance for next kid to have the same disorder
iii. 1999 mixed sperm and oocytes in dish- 15 of the fertilized ova to
develop to the 8 cell stage- DNA probes to one cell from each
embryo
iv. Adam- summer
v. Savior sibling- conceiving and selecting a child to provide cells for a
sibling became more accepted
vi. ART replace the source of male or female gamete aid fertilization
or provide a uterus
19. Early sequence analysis of the human and chimp genomes showed that we shared about
98% sequence identity but more recent DNA sequence data shows that we are about
94% identical with chimps.
a. TRUE
20. Sperm can survive in the woman’s body for up to 5 days but the oocyte is only viable
for 24-48 hours after ovulation.
a. TRUE
21. As we add more human sequences to DNA sequence databases we realize that we are all
different by about 1- 3% from each other.
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22. Sequencing genomes provides much more information than sequencing exomes.
a. TRUE
23. In the gospel of Luke who mentions conception to Mary regarding the birth of Jesus?
a. TRUE
24. A baby which implants in the fallopian tube can create life-threatening conditions and
is known as;
a. ECTOPIC
25. In this version of assisted reproduction the sperm and egg are selected outside the body
and then re- deposited into a fallopian tube.
a. GIFT/ZIFT
26. A surrogate mother carries a baby for another couple. Her egg can be fertilized or she
can carry the couple's embryo.
TRUE
