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Antepartum Book/Lecture notes
*Parts of the female reproductive system important in antepartum:
1. Fetus: Unborn human offspring after 8 weeks of conception.
2. Placenta: The placenta is the least understood human organ and arguably
one of the most important. It protects the fetus from immune attack by
the mother, removes waste products from the fetus, induces the mother
to bring more food to the placenta, and near the time of delivery,
produces hormones that ready fetal organs for life outside the uterus. The
placenta allows the developing fetus to rely on the maternal circulation to
fulfill its bioenergetic needs while growing undisturbed in the protected
environment of the uterus.
3. Amniotic fluid: [Ph-7] clear, slightly yellow liquids that surrounds the
unborn fetus during pregnancy. It contains nutrients, hormones and
antibodies important for fetal development. Roles include Temperature
stability, Development, Protection, Prevent umbilical cord compression and
Fetal movement.
4. Umbilical cord: It is the lifeline from the mother to the growing embryo.
It contains one large vein and two small arteries. Wharton jelly (a
specialized connective tissue) surrounds these three blood vessels in the
umbilical cord to prevent compression, which would cut off fetal blood and
nutrient supply. At term, the average umbilical cord is 22 in long and
about an inch wide.
5. Fetal Membranes: surrounds the fetus during pregnancy and is a thin
tissue composed of two layers, the chorion and the amnion.
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Hormones
Relaxin
Functions
Acts synergistically with progesterone to maintain pregnancy, causes
relaxation of the pelvic ligaments, and softens the cervix in
preparation for birth
hCG
The placenta is the least understood human organ and arguably one
of the most important. It protects the fetus from immune attack
by the mother, removes waste products from the fetus, induces
the mother to bring more food to the placenta, and near the time
of delivery, produces hormones that ready fetal organs for life
outside the uterus. The placenta allows the developing fetus to rely
on the maternal circulation to fulfill its bioenergetic needs while
growing undisturbed in the protected environment of the uterus.
Human placental
lactogen (hPL) or
human chorionic
Modulates fetal and maternal metabolism, participates in the
development of maternal breasts for lactation, and decreases
maternal glucose utilization, which increases glucose availability to
the fetus.
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somatomammotropin
(hCS)
Estrogen (estriol)
causes enlargement of a woman’s breasts, uterus, and external
Progesterone
Maintains the endometrium, decreases the contractility of the
(progestin)
genitalia; stimulates myometrial contractility
uterus, stimulates maternal metabolism and breast development,
provides nourishment for the early conceptus (the products of
conception after fertilization in the early stages of growth and
differentiation).
*Important note: Teratogen is any substance, organism, physical agent, or
deficiency state present during gestation that can induce abnormal postnatal
structure or function by interfering with normal embryonic and fetal development
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MENSTRUAL DISORDERS
Amenorrhea simply means absence of menses. It is a symptom, not a diagnosis.
Amenorrhea is normal in prepubertal, pregnant, postpartum, and postmenopausal
females. It usually indicates a defect somewhere. Amenorrhea is categorized as
either primary or secondary.
Primary amenorrhea is defined as either the: absence of menses by age 15, with
absence of growth and development of secondary sexual characteristics; or
absence of menses by age 16, with normal development of secondary sexual
characteristics.
Nurses need to consider the causes of amenorrhea as due to one of four factors:
ovarian failure; congenital absence of the uterus and vagina; GnRH deficiency; or
constitutional delay of puberty.
Etiology
Primary amenorrhea- has multiple causes, including:
1.
Extreme weight gain or loss
2. Congenital abnormalities of the reproductive system
3. Stress from a major life event
4. Excessive exercise
5. Eating disorders (anorexia nervosa or bulimia)
6. Cushing disease
7. Polycystic ovary syndrome
8. Hypothyroidism
9. Turner syndrome—defective development of the gonads (ovary or testes)
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10. Imperforate hymen
11. Chronic illness—diabetes, thyroid disease, depression
12. Pregnancy
13. Cystic fibrosis
14. Congenital heart disease (cyanotic)
15. Ovarian or adrenal tumors
Secondary amenorrhea- absence of 3 cycles or more of irregular of menses for 6
months (with history of regular menstruation) due to a reason or condition can
include:
1.
Pregnancy
2. Breast-feeding
3. Chronic prolonged stress
4. Pituitary, ovarian, or adrenal tumors
5. Depression
6. Hyperthyroid or hypothyroid conditions
7. Malnutrition
8. Hyperprolactinemia
9. Rapid weight gain or loss
10. Chemotherapy or radiation therapy to the pelvic area
11. Vigorous exercise, such as long-distance running
12. Kidney failure
13. Colitis
14. Chemotherapy, irradiation
15. Use of tranquilizers or antidepressants
16. Postpartum pituitary necrosis (Sheehan syndrome)
17. Early menopause
Therapeutic management:
1. Cyclic progesterone, when the cause is anovulation, or oral contraceptives
(OCs)
2. Bromocriptine to treat hyperprolactinemia
3. Nutritional counseling to address anorexia, bulimia, or obesity
4. GnRH, when the cause is hypothalamic failure
5. Thyroid hormone replacement, when the cause is hypothyroidism
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Nursing management:
Nursing assessment for the young girl or woman experiencing amenorrhea includes
a thorough health history, physical examination, and laboratory and diagnostic
tests of selected hormone levels to help to identify any underlying causes.
*Examples of these test but are not limited to the following are Health history
and physical examination and Labs.
Laboratory and diagnostic testing: Karyotype, Ultrasound to detect ovarian
cysts, Quantitative human chorionic gonadotropin (hCG) test to rule out
pregnancy, Thyroid function studies to determine thyroid disorder,
Prolactin level (an elevated level might indicate a pituitary tumor), Folliclestimulating hormone (FSH) level (an elevated level might indicate ovarian
failure), Luteinizing hormone (LH) level (an elevated level might indicate gonadal
dysfunction), 17-ketosteroids (an elevated level might indicate an adrenal
tumor).
Dysmenorrhea (cyclic perimenstrual pain) refers to painful menstruation and is a
highly prevalent problem among menstruating women. Usually, pain starts along
with the start of bleeding and lasts for 48 to 72 hours. Dysmenorrhea is a
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symptom, not a full diagnosis. It is classified as primary (spasmodic) or
secondary (congestive).
Primary (spasmodic): refers to painful menstrual bleeding in the absence of any
identified underlying pelvic pathology. It is caused by increased prostaglandin
production by the endometrium in an ovulatory cycle. This hormone causes
contraction of the uterus, and levels tend to be higher in women with severe
menstrual pain than in women who experience mild or no menstrual pain.
Dysmenorrhea is caused by the activation of the prostaglandin and leukotriene
cascade in the uterine wall. These levels are highest during the first 2 days of
menses, when symptoms peak. This results in increased rhythmic uterine
contractions from vasoconstriction of the small vessels of the uterine wall.
Usually non-pathological causes.
Secondary (congestive): is painful menstruation due to pelvic or uterine
pathology. It may be caused by endometriosis, pelvic adhesions, adenomyosis,
fibroids, pelvic inflammatory disease (PID), an intrauterine system, cervical
stenosis, or congenital uterine or vaginal abnormalities.
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Clinical Manifestations: Pain, muscle aches, Breast tenderness, Nausea, vomiting,
diarrhea, Fatigue, Fever, Headache, Dizziness, Bloating, water retention 
weight-gain and Food cravings.
Therapeutic management:
The goal of treatment is to provide adequate pain relief to allow the woman to
perform her usual activities. Current treatment mainly includes surgery and
ovarian suppressive agents. Treatments vary from over-the-counter remedies to
hormonal control. Complementary therapies such as massage therapy,
acupuncture, and acupressure are gaining popularity as different ways to cope
with the cyclic discomfort. Therapeutic intervention is directed toward pain relief
and building coping strategies that will promote a productive lifestyle. Treatment
is supportive and should be guided by individual needs.
Nursing Assessments:
Health history and clinical manifestations, Physical examination, Laboratory and
diagnostic testing
*Summary: Past medical history, Sexual history, Menstrual history and Bimanual
pelvic examination by health care provider.
Nursing management:
Educating the client about the normal events of the menstrual cycle and the
etiology of her pain is one of the most important tools in management. The
nurse should not minimize this condition because although not life- threatening
it is debilitating. Provide patient with information to record the onset of pain,
the timing of medication, relief afforded, and coping strategies used so that the
patient may be more involved in her care. The nurse should explain in detail the
dosing regimen and the side effects of the medication therapy selected.
Encourage the woman to apply a heating pad or warm compress to alleviate
menstrual cramps. Additional lifestyle changes that the woman can make to
restore some sense of control and active participation in her care.
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Menopausal Transition
Refers to the transition from a woman’s reproductive phase of her life to her
final menstrual period. This period is also referred to as perimenopause. The
average age of natural menopause, defined as 1 year without a menstrual period,
is 51.4 years old. Many women go through the menopausal transition with few
or no symptoms, while some have significant or even disabling symptoms. It
concludes their ability to reproduce, and some women find advancing age, altered
roles, and these physiologic changes to be overwhelming events that can
precipitate depression and anxiety.
Midlife is often experienced as a time of change and reflection. Change happens
in many arenas; children are leaving or returning home, employment pressures
intensify as career moves or decisions are required, older adult parents require
more care, or the death of a parent may have a major impact, and partners are
retrenching or undergoing their own midlife changes.
With its dramatic decline in estrogen, menopausal transition affects not only the
reproductive organs, but also other body systems:
Brain and
central nervous
system
hot flashes, disturbed sleep, mood, and memory problems
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Cardiovascular
lower levels of high-density lipoprotein (HDL) and increased
risk of CVD
Skeletal
rapid loss of bone density that increases the risk of
osteoporosis
Breasts
replacement of duct and glandular tissues by fat
Genitourinary
vaginal dryness, stress incontinence, cystitis
Gastrointestinal less absorption of calcium from food, increasing the risk for
fractures
Integumentary
dry, thin skin and decreased collagen levels
Body shape
more abdominal fat; waist size that swells relative to hips
Therapeutic management:
Several treatment options are available, but factors in the client’s history should
be the driving force when determining therapy. Women need to educate
themselves about the latest research findings and collaborate with their health
care providers on the right menopause therapy.
Menopause
Menopause is a universal and irreversible part of the overall aging process
involving a woman’s reproductive system after which she no longer menstruates.
This naturally occurring phase of every woman’s life marks the end of her
childbearing capacity. Defined as 1 year without a menstrual period—is 50 to 51
years old but varies among different individuals and populations. Recent study
found that women experiencing menopausal symptoms reported significantly lower
health-related quality of life and significantly high work impairment when
compared to women without menopausal symptoms.
Assessments:
1. Screening for osteoporosis, cardiovascular disease, cancer risk
2. Lifestyle – to plan strategies to prevent chronic conditions
Nursing management:
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1. Health maintenance education
2. Risk reduction
3. Lifestyle modifications
4. Stress management
Therapeutic management:
1. Hormone therapy
2. Complimentary treatments
Contraception
Contraception, “Family planning,” and “birth control” are used interchangeably when referring to the intentional
prevention of pregnancy using various devices, agents, drugs, sexual practices, and surgical procedures.
Health assessment:
1. Age
2. Religion/culture
3. Socio-economic background
4. Body comfortability
5. Future reproductive plans
6. Medical Hx, Family Hx,
OB/GYN Hx
Physical examination:
Diagnostic Tests:
1. Height
1. UA
2. Weight
2. CBC
3. BP
3. Pap smear
4. Breast
4. Tests for STIs,
examinat
ion
5. Thyroid
palpatio
HIV/AIDs
5. Lipid profile
6. Glucose level
7. Pregnancy test
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Women must decide
which method is
appropriate for them to
meet their changing
contraceptive needs
throughout their life
cycles. Nurses can
educate and assist
women during this
selection process.
Most effective methods:
male and female
sterilization,
Behavioral
ABSTINENCE
intrauterine
contraception, and
implant
is one of the least expensive forms of contraception and has been used for
Very effective methods:
thousands of years. Pregnancy cannot occur if sperm is kept out of the vagina.
Injectable contraceptive,
It also reduces the risk of contracting HIV/AIDS and other STIs, unless body
contraceptive patch,
fluids are exchanged through oral sex; however, some infections, like herpes and
ring, and pills
human papilloma virus (HPV), can still be passed by skin-to-skin contact.
Less effective methods:
Some people choose sexual abstinence because they want to:
Male and female
a. wait to have sex until they are older.
condoms, diaphragm, and
b. wait to have sex for a long-term relationship.
fertility awareness.
c. avoid pregnancy or STIs.
d. relieve feelings of depression or anxiety.
e. follow religious or cultural expectations.
FERTILITY AWARENESS-BASED METHODS
methods are based on identifying fertile days in a woman’s cycle and avoiding
sexual intercourse during that time. FAMs use physical signs and symptoms that
change with hormone fluctuations throughout a woman’s menstrual cycle to
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predict a woman’s fertility. Ovulation occurs on one day during each menstrual
cycle, and the several days preceding ovulation are when intercourse is most
likely to result in pregnancy. Collectively, the potentially fertile days up to and
including the day of ovulation are called the “fertile window.” Awareness of
fertility is a better fertility-producing method than a contraceptive method.
Cervical Mucous Method: is used to assess the character of the cervical mucus.
Cervical mucus changes in consistency during the menstrual cycle and plays a vital
role in fertilization of the egg. As ovulation approaches, the mucus becomes
more abundant, clear, slippery, and smooth; it can be stretched between two
fingers without breaking. Under the influence of estrogen, this mucus looks like
egg whites. It is called spinnbarkeit mucus. After ovulation, the cervical mucus
becomes thick and dry. This method works because the woman becomes aware of
her body changes that accompany ovulation. When she notices them, she abstains
from sexual intercourse or uses another method to prevent pregnancy. Each
woman is an individual, so each woman’s fertile time of the month is unique and
thus must be individually assessed and determined.
Basal body temperature (BBT): refers to the lowest temperature reached on
awakening. The woman takes her temperature orally before rising and records it
on a chart. If using this method by itself, the woman should avoid unprotected
intercourse until the BBT has been elevated for 3 days. Nurses should instruct
women using the BBT method that it is important to keep in mind that illness
and any drugs, including alcohol, can raise body temperature and give a false
reading. Other FAMs should be used along with BBT for better results
Standard days method (SDM): natural method of contraception. Women with
menstrual cycles between 26 and 32 days long can use the SDM to prevent
pregnancy by avoiding unprotected intercourse on days 8 through 19 of their
cycles.
Symptothermal: relies on a combination of techniques to recognize ovulation,
including BBT, cervical mucus changes, alterations in the position and firmness of
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the cervix, and other symptoms of ovulation, such as increased libido,
mittelschmerz (midcycle, lower abdominal pain at ovulation), pelvic fullness or
tenderness, and breast tenderness.
WITHDRAWL
also known as withdrawal, a man controls his ejaculation during sexual intercourse
and ejaculates outside the vagina. It is better known colloquially as “pulling out.”
It is one of the oldest and most widely used means of preventing pregnancy in
the world and one of the least effective methods for preventing pregnancy. The
problem with this method is that the first few drops of the true ejaculate
contain the greatest concentration of sperm, and if some pre-ejaculatory fluid
escapes from the urethra before orgasm, conception may result.
Lactational amenorrhea method (LAM) is an
effective temporary method of contraception used
by breast-feeding mothers. It relies on physiologic
changes associated with breast-feeding for
contraception. Breast-feeding stimulates the
hormone prolactin, which is necessary for milk
production, and it also inhibits the release of
Barrier
another
methods
hormone, gonadotropin, which is necessary
CONDOMS
for ovulation. Fairly effective for up to 6 months
after giving birth if: the woman has not had a
*Beware of latex allergies: manifestations include rash, itching, hives, swollen
menses since she gave birth, the infant is younger
mucous membranes in the genitals, burning eyes, SOB and anaphylaxis.
than 6 months of age, the woman breast-feeds her
Are barrier methods of contraceptives made for both males and females. The
baby at least six times daily on both breasts, the
male condom is made from latex or polyurethane or natural membrane and may
woman breast-feeds her baby “on demand” at least
be coated with spermicide. It serves as a barrier to pregnancy by trapping seminal
every 4 hours, the woman does not substitute
fluid and sperm after orgasm and offers protection against STIs. Condoms are
other foods for a breast-milk meal, nighttime
not perfect barriers, however, because breakage and slippage can occur.
feedings are provided at least every 6 hours.
Emergency postcoital contraception may need to be sought to prevent a
pregnancy. The female or internal condom is a polyurethane or nitrile pouch
inserted into the vagina to catch the male ejaculate. It consists of an outer and
inner ring that is inserted vaginally and held in place by the pubic bone and was
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the first woman-controlled method that offered protection against pregnancy
and some STIs. (Source: Ricci OB textbook)
DIAPHRAGM
is a soft latex or silicone dome surrounded by a metal spring. Used in
conjunction with a spermicidal jelly or cream, it is inserted into the vagina to
cover the cervix. The diaphragm may be inserted up to 2 hours before
intercourse and must be left in place for at least 6 hours afterward
(prescription only and must be fitted by HCP). Women may need to be refitted
with a different-sized diaphragm after pregnancy, abdominal or pelvic surgery, or
weight loss or gain of 10 lb or more. Generally, diaphragms should be replaced
every 1 to 2 years. It is also non-hormonal and ineffective if used incorrectly.
CERVICAL CAP
Femcap is smaller than the diaphragm and covers only the cervix; it is held in
place by suction. It is shaped like a sailor’s hat and prevents sperm from
entering the cervix. Caps are made from silicone and are used with spermicide.
The cap may be inserted up to 36 hours before intercourse and provides
protection for 48 hours. The cap must be kept in the vagina for 6 hours after
the final act of intercourse and should be replaced every year of use (refitting
may be necessary for same reasons as with diaphragms). PRESCRIPTION ONLY
CONTRACEPTIVE SPONGE
is a nonhormonal, nonprescription device that includes both a barrier and a
spermicide.
It is a soft concave device that prevents pregnancy by covering the cervix and
releasing spermicide. To use the sponge, the woman first wets it with water,
squeezes it until it is thoroughly wet and foamy, and then inserts it into the
vagina with a finger, using a cord loop attachment. It can be inserted up to 24
hours before intercourse and should be left in place for at least 6 hours
following intercourse. The sponge provides protection for up to 12 hours but
should not be left in for more than 30 hours after insertion to avoid the risk
of TSS.
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Hormonal contraceptives
ORAL CONTRACEPTIVES
Oral contraception is the most popular method of nonsurgical contraception used
by millions of women in the United States.
Although most prescribed for contraception, OC has long been used in the
management of a wide range of conditions and has many health
benefits, such
The combination
pills are prescribed
as monophasic pills, which deliver
as:
a. Reduced incidence of ovarian and endometrial cancer fixed dosages of estrogen and
b. Treatment of symptoms of endometriosis
c. Decreased incidence of acne and hirsutism
d. Decreased incidence of ectopic pregnancy
progestin, or as multiphasic ones.
Multiphasic pills (e.g., biphasic and
triphasic OCs) alter the amount of
progestin and estrogen within each
e. Decreased incidence of acute PID and possible protection against PID
f. Reduced incidence of fibrocystic breast disease
g. Decreased perimenopausal symptoms
h. Reduced risk of developing uterine fibroids
i. Maintenance of bone mineral density
cycle. To maintain adequate
hormonal levels for contraception
and enhance adherence to the
regimen, OCs should be taken at
the same time daily. More
j. Improvement in asthmatic symptoms
effective than mini pills.
k. Delayed onset of multiple sclerosis and arthritis
Progestin is sometimes called mini
l. Increased menstrual cycle regularity
pills. Progestin-only pills (POPs)
m. Lower incidence of colorectal cancer
have both advantages and
disadvantages
when compared to
n. Decreased number of pregnancy-related deaths by preventing
pregnancy
combined pills. The pill-taking
o. Reduced iron-deficiency anemia due to heavy menstrual bleeding
p. Reduced incidence of dysmenorrhea
regimen is simple and fixed; no pill
color changes or days without pilltaking occur. These pills are
appropriate for women who cannot
or should not take estrogen in
combined OCs, for example, a
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The mnemonic
“ACHES” can help
women remember the
early warning signs of
OC complications that
necessitate a return to
the health care
provider
INJECTABLE CONTRACEPTIVE (Depo-Provera and Sayana Press)
Injectable contraception includes progestin-only and combination estrogen and
progestin agents that provide safe and highly effective birth control for up to 3
months or 12 weeks. Depo-Provera is the trade name for a 3-month
intramuscular injectable of a progesterone-only contraceptive that works at the
hypothalamic/pituitary level to stop the hormonal cycle. Depo-Provera works by
suppressing ovulation and the production of FSH and LH by the pituitary gland,
increasing the viscosity of cervical mucus and causing endometrial atrophy. The
primary side effects of Depo-Provera are menstrual cycle disturbances,
depression, acne, weight gain, and loss of bone mineral density. It should also be
noted that cycles may not be restored fully for up to 9 months following the
last Depo-Provera injection.
IUD AND IUC
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An intrauterine contraceptive (IUC) is a small T-shaped object that is placed
inside the uterus to provide contraception. It prevents pregnancy by making the
endometrium of the uterus hostile to implantation of a fertilized ovum by
causing a nonspecific inflammatory reaction and inhibiting sperm and ovum from
meeting. The hormonal IUC will make monthly periods lighter, shorter, and less
painful, making this a useful method for women with heavy, painful periods. The
implants contain either copper or progesterone to enhance their effectiveness.
One or two attached strings protrude into the vagina so that the user can
check its placement.
The IUCs provide a safe,
highly effective, long-lasting,
reversible method of
contraception. Expanding
access to IUCs is an effective
measure to reduce the rate
of unintended pregnancy in
the United States. Nurses
should consider including them
in their discussion to
appropriate candidates,
including women who are
nulliparous, adolescent,
EMERGENCY CONTRACEPTION
immediately postpartum, or
those who
Emergency contraception (EC) reduces the risk of pregnancypostabortion;
after unprotected
intercourse or contraceptive failure such as condom breakage.desire
It is emergency
used within
contraception;
and those who
72 to 120 hours of unprotected intercourse to prevent pregnancy.
The sooner
want
ECs are taken, the more effective they are. They reduce the
risk an
of alternative
pregnancy to
permanent
for a single act of unprotected sex by almost 90%. 150lb weight
limit sterilization.
for most
emergency contraceptives.
a. Prime points to stress concerning ECs are:
b. ECs do not offer any protection against STIs or future pregnancies.
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c. ECs should not be used in place of a regular birth control method because
they are less effective.
d. ECs may delay the next menses, so evaluation for pregnancy is needed if
menses does not occur within 3 weeks after EC use.
e. Report any severe abdominal pain to the health care provider immediately.
f. ECs can be regular birth control pills given at a higher dose. ECs are
contraindicated if pregnant.
PERMANENT CONTRACEPTION
Sterilization refers to surgical procedures intended to render the person
infertile.
Tubal ligation, the sterilization procedure for women, can be performed
postpartum, after an abortion, or as an interval procedure unrelated to
pregnancy. In the laparoscopy procedure, the abdomen is filled with carbon
dioxide gas so that the abdominal wall balloons away from the tubes to
provide a view of the fallopian tubes. Fallopian tubes are grasped and sealed
with a cauterizing instrument or with rings, bands, or clips, or cut and tied.
Women are under anesthesia during the altering. Highly invasive.
Vasectomy is usually performed under local anesthesia in a urologist’s office,
and most men can return to work and normal activities in a day or two. The
procedure involves making a small incision into the scrotum and cutting the
vas deferens, which carries sperm from the testes to the penis. Complications
from vasectomy are rare and minor in nature. Immediate risks include
infection, hematoma, and pain. This is not immediate, though, and the man
must submit semen specimens for analysis 8 to 16 weeks after a vasectomy
until two specimens show that no sperm is present.
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GENETICS
Genetics (the study of heredity and its variations) has implications for all stages
of life and all types of diseases. The newborns or infant’s biologic traits,
including gender, race, some behavioral traits, and the presence of certain
diseases or illnesses, are directly linked to genetic inheritance. The genotype—the
specific genetic makeup of an individual, usually in the form of DNA—is the
internally coded inheritable information. It refers to the allele, which is one of
two or more alternative versions of a gene at a given position or locus on a
chromosome that imparts the same characteristic of that gene. An individual’s
genome represents their genetic blueprint, which determines genotype (the gene
pairs inherited from parents; the specific genetic makeup).
Phenotype (observed outward characteristics of an individual). An individual’s
genetic profile can help guide decisions made regarding prevention, diagnosing, and
treating disease.
A human inherits two genes, one from each parent. Therefore, one allele comes
from the mother and one from the father. These alleles may be the same for
the characteristic (homozygous) or different (heterozygous).
The pictorial analysis of
A genetic mutation is a permanent change in a DNA sequence that changes
the form, and
the number,
function of the
size of an individual’s
gene. Regulation and expression of the thousands of human genes arechromosomes
complex is termed
the karyotype. This
processes
analysis commonly
uses
and are the result of many intricate interactions within each cell. Alterations
in
gene structure
white blood cells and
fetal cells in amniotic
, function, transcription, translation, and protein synthesis can influence an
individual’s
fluid. The chromosomes
are numbered from the
health. Gene mutations are a permanent change in the sequence of DNA.
largest to the smallest,
MONOGENIC DISORDERS
1 to 22, and the sex
chromosomes are
If the defect occurs on the autosome, the genetic disorder is termeddesignated
autosomal,
by the letter
if the defect is
X or Y. A female
karyotype is designated
as 46, XX and a male
karyotype is designated
as 46, XY.
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on the X chromosome, the genetic disorder is termed X-linked. The defect can
also be
classified as dominant or recessive. Monogenic disorders include autosomal
dominant,
autosomal recessive, X-linked dominant, and X-linked recessive patterns.
PATTERNS OF GENETIC INHERITANCE
AUTOSOMAL DOMINANT INHERITANCE DISORDERS
occur when a single gene in the heterozygous state can produce the phenotype.
In other words, the abnormal or mutant gene overshadows the normal gene, and
the individual will demonstrate signs and symptoms of the disorder. The affected
person generally has one affected parent, and an affected person has a 50%
chance of passing the abnormal gene to each of their children. Family members
who are phenotypically normal (do not show signs or symptoms of the disorder)
do not transmit the condition to their offspring. Females and males are equally
affected, and a male can pass the disorder on to his son. This male-to-male
transmission is important in distinguishing autosomal dominant inheritance from
X-linked inheritance.
Common types of genetic disorders that follow the autosomal dominant pattern
of inheritance include neurofibromatosis, Huntington disease; achondroplasia; and
polycystic kidney disease.
AUTOSOMAL RECESSIVE INHERITANCE DISORDERS
Autosomal recessive inheritance disorders occur when two copies of the mutant
or abnormal gene in the homozygous state are necessary to produce the
phenotype. In other words, two abnormal genes are needed for the individual to
demonstrate signs and symptoms of the disorder. Both parents of the affected
person must be heterozygous carriers of the gene (clinically normal but carry the
gene), and their offspring have a 25% chance of being homozygous (a 50%
chance of getting the mutant gene from each parent and therefore a 25%
chance of inheriting two mutant genes). If the child is clinically normal, there is
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a 50% chance that they are carriers. Females and males are equally affected, and
a male can pass the disorder on to his son.
Common types of genetic disorders that follow the autosomal recessive
inheritance pattern include cystic fibrosis, PKU, Tay–Sachs disease, and sickle cell
disease.
X-linked inheritance disorders are those associated with altered genes present on the X
chromosome. They differ from autosomal disorders. If a male inherits an X-linked altered
gene, he will express the condition. Because a male has only one X chromosome, all the
genes on his X chromosome will be expressed (the Y chromosome carries no normal allele
to compensate for the altered gene). Because females inherit two X chromosomes, they
can be either heterozygous or homozygous for any allele. Therefore, X-linked disorders in
females are expressed similarly to autosomal disorders. X-linked inheritance disorders are
those associated with altered genes present on the X chromosome. They differ from
autosomal disorders. If a male inherits an X-linked altered gene, he will express the
condition. Because a male has only one X chromosome, all the genes on his X chromosome
will be expressed (the Y chromosome carries no normal allele to compensate for the
altered gene). Because females inherit two X chromosomes, they can be either
heterozygous or homozygous for any allele. Therefore, X-linked disorders in females are
expressed similarly to autosomal disorders. Common types of genetic disorders that follow
X-linked recessive inheritance patterns include hemophilia, color blindness, and Duchenne
muscular dystrophy.
X-linked dominant inheritance is present if heterozygous female carriers demonstrate signs
and symptoms of the disorder. All the daughters and none of the sons of an affected
male have the condition, while both male and female offspring of an affected woman have
a 50% chance of inheriting and presenting with the condition. The most common is
hypophosphatemic, Fragile X syndrome is another X-linked dominant condition that causes
a range of developmental problems including learning disabilities and cognitive impairment.
Those Who May Benefit from Genetic Counseling
o Women who are pregnant or planning to be after age 35
o Paternal age of 50 years or older
o Previous child, parents, or close relatives with an inherited disease, congenital
anomalies, metabolic disorders, developmental disorders, or chromosomal abnormalities
o Consanguinity or incest
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o Pregnancy screening abnormality, including alpha-fetoprotein, triple screen,
amniocentesis, or ultrasound
o Stillborn with congenital anomalies
o Two or more pregnancy losses
o Exposure to drugs, medications, radiation, chemicals, or infections
o Concerns about genetic defects that occur frequently in their ethnic or racial group
(for instance, those of African descent are most at risk for having a child with
sickle cell anemia)
o Abnormal newborn screening
o Couples with a family history of X-linked disorders
o Carriers of autosomal recessive or dominant diseases
o Child born with one or more major malformations in a major organ system
o Child with abnormalities of growth
o Child with developmental delay, intellectual disability, blindness, or deafness
Nurses working with families involved with genetic counseling typically have
responsibilities that include:
o
Using interviewing and active listening skills to identify genetic concerns.
o
Knowing basic genetic terminology and inheritance patterns.
o
Explaining basic concepts of probability and disorder susceptibility.
o
Safeguarding the privacy and confidentiality of clients’ genetic information.
o
Providing complete informed consent to facilitate decisions about genetic testing.
o
Discussing costs of genetic services and the benefits and risks of using health insurance
to pay for genetic services, including potential risks of discrimination.
o
Recognizing and defining ethical, legal, and social issues.
o
Providing accurate information about the risks and benefits of genetic testing.
o
Using culturally appropriate methods to convey genetic information.
o
Monitoring clients’ emotional reactions after receiving genetic analysis.
o
Providing information on appropriate local support groups.
o Knowing their own limitations and making appropriate referrals
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Multifactorial inheritance disorders
are thought to be caused by multiple genetic (polygenic) and environmental
factors. Many of the common congenital malformations, such as cleft lip, cleft
palate, spina bifida, pyloric stenosis, clubfoot, developmental hip dysplasia, and
cardiac defects, are attributed to multifactorial inheritance. A combination of
genes from both parents, along with unknown environmental factors, produces
the trait or condition. Multifactorial conditions tend to run in families, but the
pattern of inheritance is not as predictable as with single-gene disorders. The
closer the degree of relationship, the more genes an individual has in common
with the affected family member, resulting in a higher chance that the
individual’s offspring will have a similar defect. In multifactorial inheritance, the
likelihood that both identical twins will be affected is not 100%, indicating that
there are nongenetic factors involved.
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NONTRADITIONAL INHERITANCE PATTERNS
Molecular studies have revealed that some genetic disorders are inherited in ways
that do not follow the typical patterns of dominant, recessive, X-linked, or
multifactorial inheritance. Examples of nontraditional inheritance patterns include
mitochondrial inheritance and genomic imprinting. As the science of molecular
genetics advances and more is learned about inheritance patterns, other
nontraditional patterns of inheritance may be discovered or found to be
relatively common.
CLASS/ LECTURE NOTES:
PowerPoint summary/ Review:
Autosomal Dominant Inheritance Disorders
o
Single gene is capable of producing phenotype
o
Affected offspring has at least one affected parent
o
Affected person has 50% chance of transmitting to offspring
o
Any child that inherits the Dominant allele/gene will express the disorder
o
Females and males are affected
o
Male to male transmission is possible
o
Examples of Autosomal Dominant Diseases: Huntington’s Disease Achondroplasia;
polycystic kidney disease, bloodtypes (A & B), Rh factor
Autosomal Recessive Inheritance
Requires two copies of the abnormal gene
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o Both parents are each heterozygous carriers of the gene
o Both parents are carriers without clinical exhibition of the disease
o Offspring have 25% chance of being homozygous (affected)
o 50% chance of being heterozygous (carrier)
o Females & males are affected
o Males to male transmission is possible
o Examples of diseases are: PKU, cystic fibrosis, Tay-Sachs, sickle cell
X-linked Inheritance – Recessive
o Affects more males
o No male-to-male transmission
o Male child inherits abnormal X gene  affected
o Affected male  carrier daughters
o Example of X-Linked Recessive Disorders: Hemophilia, Color blindness and
Duchenne muscular dystrophy
X-linked Inheritance – Dominant
o Rare
o No male-to-male transmission
o Affected male  affected daughter
o Heterozygous female expresses the disease
o All offspring who inherits the affected X chromosome will express the disease.
o Examples of X-linked Dominant Inheritance: Hypophosphatemic, Rickets and
Fragile X syndrome
Nursing Roles and responsibilities
o Identify clients’ genetic concerns
o Assess history
o Knowledge of basic genetic terminology and
o Discuss costs of genetic services
o Explain genetic services
o Be culturally sensitive
Nurses need to have a solid understanding
of who will benefit from genetic
counseling and must be able to discuss
the role of patterns
the genetic counselor with
inheritance
families, ensuring that families at risk are
aware that genetic counseling is available
before they attempt to have another
baby.
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o Provide emotional and social support
o Refer to appropriate support services
Signs and symptoms of pregnancy
Traditionally, signs and symptoms of pregnancy have been grouped into the
following categories: presumptive, probable, and positive. The only signs that can
determine a pregnancy with 100% accuracy are positive signs.
Subjective (Presumptive) Signs
Presumptive signs are those signs that the mother can perceive. The most
obvious presumptive sign of pregnancy is the absence of menstruation. Skipping a
period is not a reliable sign of pregnancy by itself, but if it is accompanied by
consistent nausea, fatigue, breast tenderness, and urinary frequency, pregnancy
may be likely. Presumptive changes are the least reliable indicators of pregnancy
because any one of them can be caused by conditions other than pregnancy.
Objective (Probable) Signs
Probable signs of pregnancy are those that can be detected on physical
examination by a health care provider. Common probable signs of pregnancy
include softening of the lower uterine segment or isthmus (Hegar sign),
softening of the cervix (Goodell sign), and a bluish-purple coloration of the
vaginal mucosa and cervix (Chadwick sign). Other probable signs include changes in
the shape and size of the uterus, abdominal enlargement, Braxton Hicks
contractions, and ballottement (the examiner pushes against the woman’s cervix
during a pelvic examination and feels a rebound from the floating fetus) and
pregnancy tests. Although probable signs suggest pregnancy and are more reliable
than presumptive signs, they still are not 100% reliable in confirming a
pregnancy. For example, uterine tumors, polyps, infection, and pelvic congestion
can cause changes to uterine shape, size, and consistency.
Positive Signs
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Usually within 2 weeks after missed menses, enough subjective symptoms are
present so that a woman can be reasonably sure she is pregnant. However, an
experienced health care provider can confirm the woman’s suspicions by
identifying positive signs of pregnancy that can be directly attributed to the
fetus. The positive signs of pregnancy confirm that a fetus is growing in the
uterus. Visualizing the fetus by ultrasound, palpating for fetal movements, and
hearing a fetal heartbeat are all signs that make the pregnancy a certainty.
PRENATAL CARE
Prenatal assessment
The focus of prenatal care is to reduce the risk of adverse health effects for the
woman, fetus, and newborn by addressing modifiable risk factors and providing
education about having a healthy pregnancy. Once a pregnancy is suspected and,
in some cases, tentatively confirmed by a home pregnancy test, the woman
should seek prenatal care to promote a healthy outcome. The initial visit is an
ideal time to screen for factors that might place the woman and her fetus at
risk for problems such as preterm delivery. The initial visit is also an optimal
time to begin educating the client about changes that will affect her life.
Comprehensive Health History
During the initial visit, the woman should feel supported by a skilled,
knowledgeable, and well-prepared nurse. A comprehensive health history is
obtained, including age, menstrual history, prior obstetric history, past medical
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and surgical history, psychological screening, family history, genetic screening,
dietary habits, lifestyle and health practices, medication or drug use, and history
of exposure to STIs. Often, use of a prenatal history form is the best way to
document the data collected.
Physical Examination
The next step in the assessment process is the physical examination, which
detects any physical problems that may affect the pregnancy outcome. The
initial physical examination provides the baseline for evaluating changes during
future visits. A complete head-to-toe assessment is usually performed by the
health care provider. Everybody system is assessed. Some of the major areas are
discussed here. Throughout the assessment, be sure to drape the client
appropriately to ensure privacy and prevent chilling.
Body part
Assessment
Head and neck
Assess for previous injuries, evaluate for limitations of
ROM, palpate lymph nodes, note any edema of the nasal
mucosa or hypertrophy of gingival tissue in the mouth;
these are typical responses to increased estrogen levels in
pregnancy. Palpate thyroid.
Chest
Auscultate heart sounds, noting any abnormalities.
Auscultate the chest for breath sounds, which should be
clear. Also note symmetry of chest movement and thoracic
breathing patterns. Inspect and palpate the breasts and
nipples for symmetry and color (sensitivity) Blood vessels
become more visible and there is an increase in breast size.
Abdomen
The appearance of the abdomen depends on the number of
weeks of gestation, note any marks, scars, striae, scars,
shape, and size. Inspection may reveal striae gravidarum and
the linea nigra, a thin brownish black pigmented line
running from the umbilicus to the symphysis pubis,
depending on the duration of the pregnancy. Palpateshould be rounded and non-tender. Measure fundus.
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Extremities
Inspect and palpate both legs for dependent edema, pulses,
and varicose veins. If edema is present in early pregnancy,
further evaluation may be needed to rule out gestational
hypertension. During the third trimester, dependent edema
is a normal finding.
External genitalia
They should be free from lesions, discharge, hematomas,
varicosities, and inflammation upon inspection. A culture
for STIs may be collected at this time.
Internal genitalia
The cervix should be smooth, long, thick, and closed.
Because of increased pelvic congestion, the cervix will be
softened (Goodell sign), the uterine isthmus will be
softened (Hegar sign), and there will be a bluish coloration
of the cervix and vaginal mucosa (Chadwick sign). Uterus
enlarges and a Papanicolaou (Pap) smear may be obtained.
A rectal examination is done last to assess for lesions,
masses, prolapse, or hemorrhoids.
Pelvic size, shape
The size and shape of the women’s pelvis can affect her
and measure
ability to deliver vaginally. Pelvic shape is typically classified
as one of the four types: gynecoid, android, anthropoid,
and platypelloid. Taking internal pelvic measurements
determines the actual diameters of the inlet and outlet
through which the fetus will pass. Taking pelvic
measurements is unnecessary for the woman who has given
birth vaginally before (unless she has experienced some type
of trauma to the area) because vaginal delivery
demonstrates that the pelvis is adequate for the passage
of the fetus. Three measurements are assessed: diagonal
conjugate, true conjugate, and ischial tuberosity
Education and counseling
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Teaching about the Danger Signs during Pregnancy
It is important to educate the client about danger signs during pregnancy that
require further evaluation. Explain that she should contact her health care
provider immediately if she experiences any of the following:
o During the first trimester: spotting or bleeding (miscarriage), painful
urination (infection), severe persistent vomiting (hyperemesis gravidarum),
fever higher than 100°F (37.7°C; indicative of infection), and lower
abdominal pain with dizziness and accompanied by shoulder pain (indicative of
ruptured ectopic pregnancy).
o During the second trimester: regular uterine contractions (preterm labor);
pain in calf, often increased with foot flexion (indicative of DVT); sudden
gush or leakage of fluid from vagina (prelabor rupture of membranes); and
absence of fetal movement for more than 12 hours (indicative of possible
fetal distress or demise).
o During the third trimester: sudden weight gain; periorbital or facial edema,
severe upper abdominal pain, or headache with visual changes (indicative of
gestational hypertension and/or preeclampsia); and a decrease in fetal daily
movement for more than 24 hours (indicative of possible demise).
Common discomforts of pregnancy
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Cultural considerations
Antepartum History
o
o
o
o
o
o
o
o
Past medical hx
Family disorders/ relevant hx
Religious & culture
Occupational
Partner’s hx
Demographics
Medications
Nutrition & supplements
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o
o
o
o
o
Vaccinations/Immunizations
Recreational Patterns: ETOH, drug & tobacco use
Psychological assessments
Knowledge level
Support system
OB History
*Menstrual disorders, current contraceptive, previous STIs, PID, vaginitis, sexual activity
Personal history: use of tampons and female hygiene products, plans for childbearing, comfort with touching
herself, number of sexual partners and their involvement in the decision
EDD/EDB
Naegele’s Rule
The due date or expected date of confinement (EDC) can be calculated using
Naegele’s Rule. Begin on the first day of the last menstrual period (LMP),
subtract 3 months, add 7 days, and then add 1 year.
Nagele’s rule is less accurate if the woman’s
menstrual cycles are irregular; and if the
woman conceives while breast-feeding or
before her regular menstrual cycle is
established after childbirth; if she is
ovulating though she experiences
amenorrhea.