CHAPTER 3 - GENETICS, CONCEPTION, FETAL DEVELOPMENT, & REPRODUCTIVE
Genetics: scrutinize the functioning and composition of the single gene
Genomics: addresses all genes and their interrelationships in order to identify their combined influences
on the growth and development of the organism
Genetic Testing: Preimplantation testing which is used to detect genetic changes in embryos using
assisted reproductive techniques. Prior to transferring an in vitro embryo into the woman’s uterus - a cell
from the developing fetus is removed for genetic testing.
Genetic Testing: Carrier testing - used to identify individuals who carry one copy of a gene mutation
when there is a family history of a genetic disorder. When both prospective parents are tested, the test can
provide information about their risk of having a child with a genetic condition.
Genetic Diseases KNOW DESCRIPTION, ANCESTRY, AND RECESSIVE/DOMINANT/X-LINKED
Sickle Cell Disease (R) - African Ancestry
- Rigid crystals that distort and disrupt
RBCs, oxygen carrying capacity is
diminished
Cystic Fibrosis (R) - European Ancestry
- Production of thick mucus plugs in the
bronchial tree and pancreatic ducts
- Most severe effects are chronic respiratory
infections & pulmonary failure
Tay-Sachs Disease (R) - Jewish Ancestry
- Degeneration of neurons and the nervous
system results in death by 2
Phenylketonuria (R) - Lack of enzyme to metabolize AA
phenylalanine which can lead to mental
and physical retardation
- Prevention: diet restriction of
phenylalanine
Huntington’s Disease (D) - Uncontrolled muscle contractions between
30-50 years, followed by loss of memory
and personality
- No treatment to delay mental
deterioration
Hemophilia (X-Linked) - Lack of factor VIII - impairs chemical
clotting
- Risk for bleeding
- Treatment: Factor VIII from donated
blood
Duchenne’s muscular dystrophy (X-Linked) - Fatal before 20 due to cardiac muscle
- Replacement of the muscle by adipose or
scar tissue (progressive loss of muscle
fxn)
,Teratogens: Birth defects that can occur from
TOXOPLASMOSIS
genetic disorders due to teratogen exposure Cat feces & rare beef or lamb
➢ First 8 weeks of gestation: most Increases risk:
vulnerable during organogenesis (why - Fetal demise
we do ultrasounds, and frequent checks) - Blindness
- Mental Retardation
➢ After 13 weeks of gestation: may cause
NO GARDENING!
fetal growth restriction or reduction of
organ size OTHER INFECTIONS
➢ Teratogenic Agents: alcohol, ACE Syphilis, hepatitis, varicella-zoster,
inhibitors, Carbamazepine parvovirus B19
Increases risk:
(anticonvulsant), cocaine, warfarin - Congenital anomalies
(coumadin), cytomegalovirus
(infection/virus), herpes varicella RUBELLA
(chicken pox), rubella, syphilis, Vaccine given for prevention
toxoplasmosis, zika Increases risk:
- Heart defects
➢ Drugs, viruses, infections, other:
- Deafness
potential to cause embryonic/fetal - Blindness
development abnormality; degree of - Mental retardation
malformation caused by teratogen - Fetal demise
exposure varies on length of exposure, LIVE VACCINE = DON’T
amount, & when it occurs during human ADMIN TO PREGNANT
development WOMAN
REMEMBER! CYTOMEGALOVIRUS
➢ Mom learns she’s pregnant at 8 weeks Part of herpes virus; transmitted via
○ This is when the cells are droplet or trans placentally
growing & dividing fastest Increases risk:
- Hydrocephaly (fluid
○ 50% of pregnancies are
buildup) - stay away from
unplanned sick people
➢ Most at risk for these teratogens: - Microcephaly
○ Medications - Cerebral calcification
○ Alcohol - Mental retardation
○ Contact with cat feces - Hearing loss
HERPES SIMPLEX
Spread by direct contact with oral
or genital lesions - transmission is
highest during vaginal birth
-> acyclovir for treatment
No vaginal birth if mom has active
lesions
FERTILITY
,Infertility: Inability to conceive and maintain
SPERMATOGENESIS OOGENESIS
pregnancy after 12 (6 months for women older than
35 - 35 biological clock) months of unprotected FSH - stimulates sperm FSH - stimulates
sexual intercourse for women 15-44 production growth of ovarian
➢ Can be affected by: STI’s (spermatogenesis) follicles & stimulates
estrogen secretion
➢ Not affected by: contraceptives, but return
of hormones may delay cycle and ovulation LH - stimulates testosterone Estrogen - promotes
➢ ⅓ female issues, ⅓ male, ⅓ both - production maturation of the
therapeutic communication is necessary ovum
Screenings done:
Testosterone - promotes
➢ Male: maturation of sperm
○ Semen analysis
○ STI screening
○ Blood tests TYPES OF IVF
BE FAMILIAR
➢ Female:
○ Blood tests IN-VITRO oocytes are harvested
○ STI screening FERTILIZATION (IVF) and fertilization occurs
○ Hormonal Lab Tests outside the female body
in a laboratory
■ TSH - thyroid dysfunction
deals with anovulation or ZYGOTE zygote is placed into the
inconsistent ovulation INTRAFALLOPIAN fallopian tube via
■ FSH TRANSFER (ZIFT) laparoscopy 1 day after
■ LH the oocyte is retrieved
■ Anti-mullerian hormone - from the woman and IVF
development of sex organs is used; implanted in its
own
■ Testosterone
○ Ovulatory dysfunction analysis GAMETE sperm and oocyte are
■ Basal body temp INTRAFALLOPIAN mixed outside the
■ Endometrial Biopsy - TRANSFER (GIFT) woman’s body and
assess response of uterus places into the fallopian
to hormonal signals; end tube via laparoscopy.
Fertilization occurs in
of mens cycle - checks
the fallopian tube. (only
lining one catholic person can
■ Hysterosalpingogram - do – GIFT from God –
radiologic exam provides not a high success rate)
infor for canals, tube, and
cavity; check for allergy to EMBRYO TRANSFER embryo is placed in the
shellfish (ET) uterine cavity via
catheter. Used when
■ Laparoscopy - visualized fallopian tubes are
and inspects ovaries, blocked
fallopian tubes, uterus for
scaring
HORMONES INVOLVED
TREATMENT FOR INFERTILITY
MYOMECTOMY - Removal of uterine fibroids through
, surgery
MEDICATION - CLOMIPHENE CITRATE - Indication: anovulatory infertility
(CLOMID) - Action: stimulates release of FSH & LH
(stimulates ovulation)
- Side effects: hot flashes, breast
discomfort, headaches, insomnia,
bloating, blurry vision, nausea, vaginal
dryness
- Route & dose: PO 50 - 200 mg/day from
cycle day 3-7
- Nursing action: educate s/e, don't operate
machinery
MENSTRUAL CYCLE
Composed of ovarian and endometrial cycle
HPO AXIS
HYPOTHALAMUS secretes gonadotropin-
releasing hormone
PITUITARY GLAND secretes FSH & LH
OVARIAN secretes estrogen
HORMONES INVOLVED
PROGESTERONE Helps maintain pregnancy,
can also cause constipation
ESTROGEN Matures the egg
FSH Stimulates formation of
ovarian follicles & estrogen
LH Causes estrogen levels to
drop & progesterone to rise
KNOW WHAT HAPPENS WHEN AND WHAT HORMONES ARE INVOLVED
PHASES OF OVARIAN CYCLE (Maturation of ova) FOL (LIKE FALL)
FOLLICULAR OVULATORY LUTEAL
FSH/LH -> Graffian Follicle -> Estrogen peaks -> LH surge (12- Corpus luteum (dying follicle -
estrogen (DAY 1-14) 36 hours prior to hCG)
ovulation)/estrogen High progesterone/low estrogen
decreases/progesterone increases PREGNANT ->
-> oocyte releases progesterone/estrogen is released
Genetics: scrutinize the functioning and composition of the single gene
Genomics: addresses all genes and their interrelationships in order to identify their combined influences
on the growth and development of the organism
Genetic Testing: Preimplantation testing which is used to detect genetic changes in embryos using
assisted reproductive techniques. Prior to transferring an in vitro embryo into the woman’s uterus - a cell
from the developing fetus is removed for genetic testing.
Genetic Testing: Carrier testing - used to identify individuals who carry one copy of a gene mutation
when there is a family history of a genetic disorder. When both prospective parents are tested, the test can
provide information about their risk of having a child with a genetic condition.
Genetic Diseases KNOW DESCRIPTION, ANCESTRY, AND RECESSIVE/DOMINANT/X-LINKED
Sickle Cell Disease (R) - African Ancestry
- Rigid crystals that distort and disrupt
RBCs, oxygen carrying capacity is
diminished
Cystic Fibrosis (R) - European Ancestry
- Production of thick mucus plugs in the
bronchial tree and pancreatic ducts
- Most severe effects are chronic respiratory
infections & pulmonary failure
Tay-Sachs Disease (R) - Jewish Ancestry
- Degeneration of neurons and the nervous
system results in death by 2
Phenylketonuria (R) - Lack of enzyme to metabolize AA
phenylalanine which can lead to mental
and physical retardation
- Prevention: diet restriction of
phenylalanine
Huntington’s Disease (D) - Uncontrolled muscle contractions between
30-50 years, followed by loss of memory
and personality
- No treatment to delay mental
deterioration
Hemophilia (X-Linked) - Lack of factor VIII - impairs chemical
clotting
- Risk for bleeding
- Treatment: Factor VIII from donated
blood
Duchenne’s muscular dystrophy (X-Linked) - Fatal before 20 due to cardiac muscle
- Replacement of the muscle by adipose or
scar tissue (progressive loss of muscle
fxn)
,Teratogens: Birth defects that can occur from
TOXOPLASMOSIS
genetic disorders due to teratogen exposure Cat feces & rare beef or lamb
➢ First 8 weeks of gestation: most Increases risk:
vulnerable during organogenesis (why - Fetal demise
we do ultrasounds, and frequent checks) - Blindness
- Mental Retardation
➢ After 13 weeks of gestation: may cause
NO GARDENING!
fetal growth restriction or reduction of
organ size OTHER INFECTIONS
➢ Teratogenic Agents: alcohol, ACE Syphilis, hepatitis, varicella-zoster,
inhibitors, Carbamazepine parvovirus B19
Increases risk:
(anticonvulsant), cocaine, warfarin - Congenital anomalies
(coumadin), cytomegalovirus
(infection/virus), herpes varicella RUBELLA
(chicken pox), rubella, syphilis, Vaccine given for prevention
toxoplasmosis, zika Increases risk:
- Heart defects
➢ Drugs, viruses, infections, other:
- Deafness
potential to cause embryonic/fetal - Blindness
development abnormality; degree of - Mental retardation
malformation caused by teratogen - Fetal demise
exposure varies on length of exposure, LIVE VACCINE = DON’T
amount, & when it occurs during human ADMIN TO PREGNANT
development WOMAN
REMEMBER! CYTOMEGALOVIRUS
➢ Mom learns she’s pregnant at 8 weeks Part of herpes virus; transmitted via
○ This is when the cells are droplet or trans placentally
growing & dividing fastest Increases risk:
- Hydrocephaly (fluid
○ 50% of pregnancies are
buildup) - stay away from
unplanned sick people
➢ Most at risk for these teratogens: - Microcephaly
○ Medications - Cerebral calcification
○ Alcohol - Mental retardation
○ Contact with cat feces - Hearing loss
HERPES SIMPLEX
Spread by direct contact with oral
or genital lesions - transmission is
highest during vaginal birth
-> acyclovir for treatment
No vaginal birth if mom has active
lesions
FERTILITY
,Infertility: Inability to conceive and maintain
SPERMATOGENESIS OOGENESIS
pregnancy after 12 (6 months for women older than
35 - 35 biological clock) months of unprotected FSH - stimulates sperm FSH - stimulates
sexual intercourse for women 15-44 production growth of ovarian
➢ Can be affected by: STI’s (spermatogenesis) follicles & stimulates
estrogen secretion
➢ Not affected by: contraceptives, but return
of hormones may delay cycle and ovulation LH - stimulates testosterone Estrogen - promotes
➢ ⅓ female issues, ⅓ male, ⅓ both - production maturation of the
therapeutic communication is necessary ovum
Screenings done:
Testosterone - promotes
➢ Male: maturation of sperm
○ Semen analysis
○ STI screening
○ Blood tests TYPES OF IVF
BE FAMILIAR
➢ Female:
○ Blood tests IN-VITRO oocytes are harvested
○ STI screening FERTILIZATION (IVF) and fertilization occurs
○ Hormonal Lab Tests outside the female body
in a laboratory
■ TSH - thyroid dysfunction
deals with anovulation or ZYGOTE zygote is placed into the
inconsistent ovulation INTRAFALLOPIAN fallopian tube via
■ FSH TRANSFER (ZIFT) laparoscopy 1 day after
■ LH the oocyte is retrieved
■ Anti-mullerian hormone - from the woman and IVF
development of sex organs is used; implanted in its
own
■ Testosterone
○ Ovulatory dysfunction analysis GAMETE sperm and oocyte are
■ Basal body temp INTRAFALLOPIAN mixed outside the
■ Endometrial Biopsy - TRANSFER (GIFT) woman’s body and
assess response of uterus places into the fallopian
to hormonal signals; end tube via laparoscopy.
Fertilization occurs in
of mens cycle - checks
the fallopian tube. (only
lining one catholic person can
■ Hysterosalpingogram - do – GIFT from God –
radiologic exam provides not a high success rate)
infor for canals, tube, and
cavity; check for allergy to EMBRYO TRANSFER embryo is placed in the
shellfish (ET) uterine cavity via
catheter. Used when
■ Laparoscopy - visualized fallopian tubes are
and inspects ovaries, blocked
fallopian tubes, uterus for
scaring
HORMONES INVOLVED
TREATMENT FOR INFERTILITY
MYOMECTOMY - Removal of uterine fibroids through
, surgery
MEDICATION - CLOMIPHENE CITRATE - Indication: anovulatory infertility
(CLOMID) - Action: stimulates release of FSH & LH
(stimulates ovulation)
- Side effects: hot flashes, breast
discomfort, headaches, insomnia,
bloating, blurry vision, nausea, vaginal
dryness
- Route & dose: PO 50 - 200 mg/day from
cycle day 3-7
- Nursing action: educate s/e, don't operate
machinery
MENSTRUAL CYCLE
Composed of ovarian and endometrial cycle
HPO AXIS
HYPOTHALAMUS secretes gonadotropin-
releasing hormone
PITUITARY GLAND secretes FSH & LH
OVARIAN secretes estrogen
HORMONES INVOLVED
PROGESTERONE Helps maintain pregnancy,
can also cause constipation
ESTROGEN Matures the egg
FSH Stimulates formation of
ovarian follicles & estrogen
LH Causes estrogen levels to
drop & progesterone to rise
KNOW WHAT HAPPENS WHEN AND WHAT HORMONES ARE INVOLVED
PHASES OF OVARIAN CYCLE (Maturation of ova) FOL (LIKE FALL)
FOLLICULAR OVULATORY LUTEAL
FSH/LH -> Graffian Follicle -> Estrogen peaks -> LH surge (12- Corpus luteum (dying follicle -
estrogen (DAY 1-14) 36 hours prior to hCG)
ovulation)/estrogen High progesterone/low estrogen
decreases/progesterone increases PREGNANT ->
-> oocyte releases progesterone/estrogen is released
