Families With Special Reproductive Concerns
o The lack of conception after one year of unprotected intercourse
o The inability to carry a pregnancy to a live birth
o 16% of all couples will experience some degree of infertility
o -Infertility consumes a couples entire life. All activities revolve around a schedule.
o -Infertility counseling is usually recommended after 6-9 months of unprotected sex
o if the woman is over age 35.
o -For younger women, such as a 25 years old (which is when couples are most fertile),
o conception usually occurs within 5.3 months.
Essential Components of Fertility
Cervical mucus - favorable
Fallopian tubes - patent
Ovaries - cyclic ovulation
Endometrium - implantation
Hormones - adequate amounts
Sperm available - normal
Normal pH - semen
Ejaculated sperm – cervix
The least invasive form of testing
Is sperm available?
Are there eggs?
Can the two “get together”?
Can the embryo implant?
Shit from the Bottom of the slide
*Initial history interview is in depth. The couple should attend the 1st visit together.
*Infertility can be reduced to 3 generic causes that account for 90% of reproductive
*These causes are
o (1) anovulation (which is no release of ova from the ovary) (30%)
o (2) anatomic defects of the female genital tract (30%)
o (3) abnormal spermatogenesis (40%)
*Each of these categories can be investigated by a simple diagnostic procedure that
gives a high probability of establishing a cause.
o 1. Anovulation can be determined by checking a basal body temperature
o 2. Anatomic defects can be determined by a hysterosalpingogram which can be
performed in the physicians office without general anesthesia. (radiopaque dye
is injected through the cervix. The dye enters the uterus and fallopian tubes and
through x-ray examination, any abnormalities in the uterine structure or tubal
patency can be identified).
o 3. Abnormal spermatogenesis can be determined by a sperm analysis. It is
important to use the least invasive procedure to diagnosis the problem.
Hysterosalpingo grams are performed in the follicular phase of the cycle to avoid
interrupting an early pregnancy, so the nurse needs to establish the client’s phase of the
o Figure 7-1 (page 137)
o Ovulatory factors
BBT – Basal body temperature- This is an excellent screening test for ovulation. The
temperature drops at the time of menses, then rises 2 days after the peak of the
lutenizing hormone surge (LH). The day of the lutenizing surge is believed to be the day
of maximum fertility. Ovum release probably occurs 1 day before the first temperature
elevation and the temperature remains high for 13 to 14 days, then drops, with menses
beginning 14 to 36 hours thereafter. Actual release of the ovum probably occurs 24 – 36
hours prior to the first temperature elevation (estrogen peak). Clinicians will
recommend sexual intercourse every other day beginning 3-4 days prior to and
continuing for 2-3 days after the expected time of ovulation.
*The basal body temperature is used to detect the fertile period by mapping body
temperature changes. These changes occur because during the PREOVULATORY phase
the temperature is below 98 degrees. Since this is prior to the release of the ova, no
pregnancy would occur. As ovulation approaches, estrogen production increases. At its
peak, estrogen may cause a slight drop, then a rise, in the basal temperature. Next,
ovulation occurs and a surge in luteninzing hormone stimulates the production of
progesterone. Progesterone produces heat (which explains why guys tolerate cooler
temperatures than girls). The temperature change is an increase of 0.5 to 1.0 degree
Fahrenheit). This sustained rise is basal temperature remains during the second half of
the menstrual cycle. Figure 7-2, page 138
Ovulation predictor kits
Progesterone levels – evidence of ovulation and corpus luteum functioning
Gonadotropin levels - FSH/LH
o FSH (follicle-stimulating hormone) is measured on cycle day 3. FSH is the single
most valuable test for ovarian reserve and function. FSH and LH prepare the
uterine endometrium for implantation and support the pregnancy following
conception and implantation.
Endometrial biopsy – 10 – 12 days after ovulation
Endometrial biopsy- provides information about endometrial receptivity. A dysfunction
may exist if the endometrial lining does not show the expected amount of secretory
tissue for that day of the woman’s menstrual cycle. The nurses role is to teach the
patient about the appropriate timing of the test; it should be performed not earlier than
10-12 days after ovulation which will be 2-3 days before menstruation is expected.
Transvaginal Ultrasound – follicular monitoring
Transvaginal Ultrasound – Allows monitoring of the structure of the pelvic organs,
identifies maturing ovarian follicles and the timing of ovulation.
o Age – as age increases, fertility decreases
o Hormonal imbalances
Polycystic Ovarian Syndrome
Etiology unknown. This causes a decrease in ovulation or there may be no ovulation.
Client will have irregular menses.
Hyperprolcatinemia – Can be related to pituitary adenomas and results in amenorrhea.
Hyper/ hypothyroidism – Amenorrhea
Weight extremes whether the client is too small or too heavy
o Treatments for ovulatory disorders
Correct hormone imbalances
Weight loss or gain
Ovulation drugs such as Parlodel decreases prolactin, thus preventing suppression of
FSH and LH
Evaluation of Cervical Factors
Mucus amount increases 10 fold
Mucus viscosity decreases
Cervical mucus stretches 8-10 cm
Excellent when the water content rises significantly. This happens with ovulation. If the
secretions are too thick, the sperm can not swim up to the ova.
o Ferning Capacity
Increases with ovulation
Indicates estrogen production
o Huhner or postcoital exam
Cervical procedures – removes mucus secreting glands
Evaluates the cervical mucus, sperm motility, sperm-mucus interactions, and the
sperm's ability to negotiate the cervical mucus barrier.
Uterine Structures and Tubal Patency
o Tubal Blockage
Previous ectopic pregnancy
Previous BTL with reanastomosis
Tubal blockage can result in scarring from the listed disorders
Hysterosalpingography (Hysterogram) – follicular phase
IVF – in vitro fertilization
o Hormonal Implantation factors
Progesterone level on post ovulatory day 7
Endometrial biopsy 12 days after ovulation
o Physical Barriers to Implantation
Uterine Scarring – Asherman’s Syndrome
Asherman’s Syndrome could be due to hyperprolactinemia. The condition is
characterized by the presence of endometrial adhesions or scar tissue.
Remove fibroids; correct deformities
o 40 % of infertility caused by male alone
o Referred to a Urologist
o Semen analysis
> 2 ml total ejaculate
pH 7.0 – 8.0
> 20 million live sperm per ml ejaculate
50% motile and exhibit forward progression
> 30% normal sperm
From the bottom of the slide
Specimen is collected after 2-3 days of abstinence.
An infertile specimen is one that has:
o 1. fewer than 20 million sperm per milliliter,
o 2. less than 50% motility at 6 hours, or
o 3. less than 30% normal sperm forms.
o See Table 7-4, page 143
Causes of Male infertility
o Sperm production deficiencies
o Environmental factors – increased scrotal heat, lead & pesticide exposure
Hot tubs or occupations requiring long hours of sitting. Lead and pesticide exposure can also
reduce sperm count
o Drug use – marijuana, alcohol, cocaine
Marijuana, alcohol and cocaine depress sperm count and testosterone levels.
Cigarette smoking may depress sperm motility.
o Blockage of delivery system
o Immunologic - sperm antibodies
o Undescended or damaged testicles
o Varicocele – enlargement of veins of spermatic cord
Treatment of Male Factors
o Varicocele repair
o IVF with or without immunosuppression
o Donor sperm
o Shit from Slide
Varicocele – is an abnormal enlargement of the vein that is in the scrotum draining the testicles.
This causes the valves within the veins along the spermatic cord to not work properly. Recently
several scientific research studies have shown that in over 90% of the cases in male infertility
the main cause is bilateral varicocele.
Persistent hyoxia with in the testicular tissue that causes in time, deterioration in the quality
and in the quality in the production of sperm.
o Pharmacological Methods
Stimulates follicle growth
Starting on day 5
Side effects – ovarian cysts, bloating, visual disturbances, hot flashes
HMG and HCG
Second line of therapy with clomid failure
HMG - Stimulates follicular growth
HCG - Causes release of follicle
Hyperprolactinemia – inhibits secretion of prolactin, prevents suppression of FSH & LH
Progesterone - support the endometrium
Lupron Depot, Danocrine – Endometriosis
o Therapeutic Insemination (Artificial)
Husband (THI) or donor (TDI) sperm
Sperm introduced into uterus or at the cervical os through small plastic catheter
Timed appropriately with LH surge or HCG
Side effects – intrauterine infection, allergic reaction, cramping, nausea, abdominal pain,
Complicated & expensive
Intracytoplasmic Sperm Injection – inject sperm into ovum
MESA – microsurgical epididymal sperm aspiration
PESA – percutaneous epididymal sperm aspiration
TESA – testicular sperm aspiration
Retrieval of sperm in men with azoospermia
o In-Vitro Fertilization – success rate 31%
Down regulate ovaries
Stimulate ovaries with Gonadotropins
Trigger ovulation with HCG
Oocyte retrieval 34-36 hours after HCG
Fertilization in Laboratory
Embryo transferred into fundus on day 5
o Other Assisted Reproductive Techniques
GIFT – gamate intrafallopian transfer
Oocyte retrieved and inserted into fallopian tube with sperm, fertilization inside
More than 1 oocyte or egg retrieved. Usually 2-3 transferred
ZIFT – zygote intrafallopian transfer
Oocyte retrieved and incubated with sperm – fertilization in laboratory
Inserted into fallopian tube
TET – tubal embryo transfer
Transferred at the embryo stage
Cryopreservation – frozen embryos
o Donor and recipient’s menstrual cycles synchronized
o IVF steps with donor
o Artificially stimulate recipent’s endometrium for implantation
o Ooyctes retrieved from donor, fertilized with sperm, and transferred to recipient’s uterus
Finding a donor
o Oocytes fertilized with husband’s sperm Transferred to third party uterus
o Birth - baby returned to couple
Finding a carrier
Texas – the woman who gives birth is the legal mother
o Long waiting period
o Decreased number of infants available
o International adoption, older children, children with handicaps or of mixed race
Grief and Mourning
o Perceived as a loss
o Feelings of failure or inadequacy
o Stages of grief
o Professional counseling
o Chromosomes – tightly coiled strands of DNA
44 autosomes and 2 sex chromosomes
A set of maternal and a set of paternal chromosomes. In humans the diploid number is
Half the diploid number of chromosomes or pairs
Egg and sperm 23 pairs of chromosomes
o 22 are autosomes and one sex chromosomes
picture analysis of chromosomes See Figure 7-7, page 152 & Figure 7-8
Abnormalities of Chromosome Number
o Nondisjunction – paired chromosomes fail to separate during cell division
Normal gamate and a gamate that contains an extra chromosome
Normal gamate and a gamate with a missing chromosome
o Mosiacism – nondisjunction occurs after fertilization
o Most common trisomy in children
o Incidence: 1 in 700 births
o Characteristics: mental retardation, hypotonia, depressed nasal bridge, slant of eyes with epicanthal
folds, low-set ears, simian line, increased ulnar loops, congenital heart defects
Abnormalities in Chromosome Structure
Carrier parent has 45 chromosomes with one fused to another
o Addition or Deletion
A portion of a chromosome is added or lost
o Shit from slide
A common translocation is one in which a particle of chromosome 14 breaks and fuses to
chromosome 21. the parent has one normal 14, one normal 21 and one 14/21 chromosome.
When a person who has this chromosome abnormality, mates with a person who has a
structurally normal number of chromosome, the child can have a normal # of chromosomes, be
a carrier, or have an extra chromosome 21. Such a child has Down’s Syndrome.
Sex Chromosome Abnormalities
o Turner Syndrome
45 chromosomes, XO with no Barr bodies
Occurs when a woman has only one X chromosome.
Characteristics: Short statue, little sexual differentiation, webbing of the neck with a low
posterior hairline and congenital cardiac anomalies.
o Klinefelter Syndrome
47 chromosomes, XXY with 1 Barr body
An extra X chromosome in the male.
Characteristics: Tall stature, sparse pubic hair and facial hair, small firm testes, absence of
spermatogensis, and abnormally large mammary glands which may secrete mlk
Modes of Inheritance
o Autosomal Dominant Inheritance
Occurs when an individual has a gene that produces an effect whenever it is present
Affected individuals have affected parents
50% chance with each pregnancy of passing the abnormal gene
Males and females affected equally
Great variations in degree of characteristics seen within a family
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Heterozygous – Abnormal gene overshadows normal gene.
One parent has the disorder.
Huntington Disease which is a disease of the central nervous system. Onset between
the ages of 30 – 50 years. Progressive dementia.
Polycystic Kidney Disease – Cysts throughout kidneys, resulting in kidney failure.
o Autosomal Recessive Inheritance
Occurs when an individual has a gene that produces an effect only when there are 2 abnormal
Affected individuals may have clinically normal parents but both are carriers
25% chance with each pregnancy of passing the abnormal gene; 50% chance of being a carrier
Males and females affected equally
Increased risk with intermarriage
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Autosomal Recessive – Parents my both be carriers
Cystic Fibrosis – disease involving the exocrine glands, esp. those secreting mucus and
results in chronic pulmonary disease, pancreatic insufficiency, abnormally high sweat
electrolyte levels, and sometimes cirrhosis of the liver.
PKU – body’s failure to oxidize an amino acid because of a defective enzyme. If not
treated may lead to brain damage.
Tay Sachs – Neurological deterioration with mental and physical retardation and
blindness. Occurs 100 times more in Jewish children than in others.
Sickle Cell Anemia – the patient will possess one sickle and one normal gene. The
primary defect is this type of genetic disease is that the globin chain in normal
hemoglobin A (HbA) is partially or completely replaced by hemoglobin S (HbS).
Hemoglobin S has a substitution of the amino acid valine for glutamine which is more
sensitive to the changes in the oxygen concentration in the blood. When a patient has a
large amount of hemoglobin S and a decrease in oxygen levels, these abnormal
hemoglobins clump together with the cell and change the shape from donut-like to a
sickled shape. Tissue ischemia results from the occlusion and the inherited fragility of
the sickled cell. Once RBC’s sickle, they are more fragile and easily destroyed. The
surfaces of these sickled cells are also sticky and adhere to the blood vessel walls.
o X-Linked or Sex Linked Recessive Inheritance
Disorder carried on the X chromosome
X linked disorders manifested only in the male who carries the gene
No male-to-male transmission
Affected males through the female line
50% chance that a carrier mother will pass the abnormal gene to her son who is then affected;
50% chance she will pass the gene to her daughter who will be a carrier like herself; affected
father cannot pass the disorders to his sons but all of his daughters will be carriers
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Sons will get 1 X chromosome from mother and the Y chromosome from father to
determine male baby.Examples: Color blindness, Hemophilia – Blood disease
characterized by prolonged coagulation time.
o X-Linked Dominant Inheritance
Disorders extremely rare
Abnormal gene is dominant and overshadows the normal gene
Heterozygous females are affected
No male-to-male transmission
Affected fathers have affected daughters – no affected sons
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Heterozygous means impure, not breeding true.
Most common – Vitamin D resistant rickets.
o Fragile X Syndrome
Common form of mental retardation – second to Down Syndrome among all causes in males
CNS disorder linked to a fragile site on the X chromosome
Characteristics – moderate mental retardation, large protuberant ears, large testes after
puberty; females have no abnormal features but are mildly mentally retarded
o Multifactorial Inheritance
Congenital malformations caused by the interaction of many genes and environmental factors
Malformations vary from mild to severe
The more severe the defect, the greater the number of abnormal genes
With environmental influences, fewer genes required to produce the disorder
The more family members who have the defect, the greater the chance the next pregnancy will
be affected; risk of recurrence in first degree relatives is 2-5%
Shit from Slide
Often there is a sex bias:
Pyloric Stenosis – more common in males
Cleft Palate – More common in females
Environmental factors: altitude, chemical in the environment.
o Prenatal diagnosis
o Genetic Ultrasound
o Genetic Amniocentesis
o Chorionic Villus sampling
May be performed at 8 – 10 weeks of gestation. Sample is obtained from the edge of the
developing placenta. Sample can analyze DNA, enzyme and chromosomal tests.
o Percutaneous Umbilical Blood sampling
A method to obtain pure fetal blood from the umbilical cord while the fetus is in utero. Allows
for rapid chromosome diagnosis.
o Alpha fetoprotein
A fetal protein produced in the yolk sac for the first 6 weeks of gestation and then by the fetal
liver. Obtained by amniocentesis. If elevated, could be open neural tube defects, anencephaly
(absence of brain and spinal cord), Down’s Syndrome and other anomalies.
o Implications of Prenatal Diagnosis
o Postnatal Diagnosis
Genetic Counseling Process
Learn about disease
Psychological and social impact
Known inherited diseases
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked or Sex Linked Recessive Inheritance