Families With Special Reproductive Concerns

Infertilityo The lack of conception after one year of unprotected intercourseo The inability to carry a pregnancy to a live birtho 16% of all couples will experience some degree of infertilityo -Infertility consumes a couples entire life. All activities revolve around a schedule. o -Infertility counseling is usually recommended after 6-9 months of unprotected sexo 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 Fertilityo Female

Cervical mucus - favorable Fallopian tubes - patent Ovaries - cyclic ovulation Endometrium - implantation Hormones - adequate amounts

o Male Sperm available - normal No obstruction Normal pH - semen Ejaculated sperm – cervix

Evaluationo Initial

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

dysfunction: *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 reading.

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 menstrual cycle.

o Figure 7-1 (page 137) Female Fertility

o Ovulatory factors BBT charts

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

Hormonal Evaluations Prolactin/TSH levels 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.

Ovulatory Dysfunctiono Age – as age increases, fertility decreaseso Hormonal imbalances

Polycystic Ovarian Syndrome Etiology unknown. This causes a decrease in ovulation or there may be no ovulation.

Client will have irregular menses. Hyperprolactinemia

Hyperprolcatinemia – Can be related to pituitary adenomas and results in amenorrhea. Hyper/Hypothyroidism

Hyper/ hypothyroidism – Amenorrhea Weight extremes

Weight extremes whether the client is too small or too heavyo Treatments for ovulatory disorders

Correct hormone imbalances Weight loss or gain Ovulation drugs

Ovulation drugs such as Parlodel decreases prolactin, thus preventing suppression of FSH and LH

Evaluation of Cervical Factorso Spinnbarkeit

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 Inhospitable mucus

Inadequate estrogen 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. Treatment

Estrogen Intrauterine insemination Antibiotics

Uterine Structures and Tubal Patencyo Tubal Blockage

Endometriosis Previous STD’s Previous ectopic pregnancy Previous BTL with reanastomosis

Tubal blockage can result in scarring from the listed disorderso Treatment

Hysterosalpingography (Hysterogram) – follicular phase Hystesoscopy Laparoscopy IVF – in vitro fertilization Endometriosis

Implantation Factorso Hormonal Implantation factors

Progesterone level on post ovulatory day 7 Endometrial biopsy 12 days after ovulation Treatment

Hormone supplementation Superovulation

o Physical Barriers to Implantation Uterine Fibroids Uterine Deformities 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.

Treatment Remove fibroids; correct deformities

Male Factorso 40 % of infertility caused by male aloneo Referred to a Urologisto Semen analysis

Normal parameters > 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 infertilityo Sperm production deficiencieso 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 systemo Immunologic - sperm antibodieso Undescended or damaged testicleso Varicocele – enlargement of veins of spermatic cord

Treatment of Male Factorso Inseminationo Varicocele repairo IVF with or without immunosuppression o Donor spermo 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.

Infertility Treatmentso Pharmacological Methods

Clomid 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

Parlodel 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,

diarrhea 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 Progesterone support

o Other Assisted Reproductive Techniques GIFT – gamate intrafallopian transfer

Oocyte retrieved and inserted into fallopian tube with sperm, fertilization inside woman’s body

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 Donor Oocytes

o Donor and recipient’s menstrual cycles synchronizedo IVF steps with donoro Artificially stimulate recipent’s endometrium for implantationo Ooyctes retrieved from donor, fertilized with sperm, and transferred to recipient’s uterus o Complications

Finding a donor Legal concerns

Gestational Carriero Oocytes fertilized with husband’s sperm Transferred to third party uterus o Birth - baby returned to couple o Complications

Finding a carrier Legal concerns

Texas – the woman who gives birth is the legal mother Adoption

o Long waiting periodo Decreased number of infants availableo Expensiveo International adoption, older children, children with handicaps or of mixed race

Grief and Mourningo Perceived as a losso Feelings of failure or inadequacyo Stages of griefo Professional counseling

Geneticso Chromosomes – tightly coiled strands of DNA

Diploid 44 autosomes and 2 sex chromosomes

A set of maternal and a set of paternal chromosomes. In humans the diploid number is 46.

Haploid Half the diploid number of chromosomes or pairs Egg and sperm 23 pairs of chromosomes

o 22 are autosomes and one sex chromosomes Karyotype

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 Trisomy

Normal gamate and a gamate that contains an extra chromosome Monosomy

Normal gamate and a gamate with a missing chromosomeo Mosiacism – nondisjunction occurs after fertilization

Down Syndromeo Most common trisomy in childreno Incidence: 1 in 700 birthso 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

o Translocation 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 Abnormalitieso 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 Shit from Slide

Heterozygous – Abnormal gene overshadows normal gene. One parent has the disorder. Examples – 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

genes 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 Shit from slide

Autosomal Recessive – Parents my both be carriers Examples – 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

Shit from Slide

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 Shit from slide

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 retardedo 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

Example: Spina Bifida 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.

Diagnosiso Prenatal diagnosiso Genetic Ultrasoundo Genetic Amniocentesiso 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

o Goals Provide information Make decisions Learn about disease Psychological and social impact Referrals

Congenital abnormalities Familial disorders Known inherited diseases Metabolic disorders Chromosomal abnormalities

Follow-up counseling

Autosomal Dominant Inheritance

Autosomal Recessive Inheritance

X-Linked or Sex Linked Recessive Inheritance