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Families With Special Reproductive ConcernsInfertilityThe lack of conception after one year of unprotected intercourseThe inability to carry a pregnancy to a live birth16% of all couples will experience some degree of infertility-Infertility consumes a couples entire life. All activities revolve around a schedule. -Infertility counseling is usually recommended after 6-9 months of unprotected sex if the woman is over age 35. -For younger women, such as a 25 years old (which is when couples are most fertile), conception usually occurs within 5.3 months.Essential Components of FertilityFemaleCervical mucus - favorableFallopian tubes - patent Ovaries - cyclic ovulation Endometrium - implantationHormones - adequate amountsMaleSperm available - normalNo obstructionNormal pH - semenEjaculated sperm – cervixEvaluationInitialThe least invasive form of testingIs 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 (1) anovulation (which is no release of ova from the ovary) (30%) (2) anatomic defects of the female genital tract (30%)(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.1. Anovulation can be determined by checking a basal body temperature reading. 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).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.Figure 7-1 (page 137)Female FertilityOvulatory factorsBBT chartsBBT – 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 138Hormonal EvaluationsProlactin/TSH levelsOvulation predictor kitsProgesterone levels – evidence of ovulation and corpus luteum functioning Gonadotropin levels - FSH/LH 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 ovulationEndometrial 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 DysfunctionAge – as age increases, fertility decreasesHormonal imbalancesPolycystic Ovarian SyndromeEtiology unknown. This causes a decrease in ovulation or there may be no ovulation. Client will have irregular menses.HyperprolactinemiaHyperprolcatinemia – Can be related to pituitary adenomas and results in amenorrhea. Hyper/HypothyroidismHyper/ hypothyroidism – AmenorrheaWeight extremesWeight extremes whether the client is too small or too heavyTreatments for ovulatory disordersCorrect hormone imbalancesWeight loss or gainOvulation drugsOvulation drugs such as Parlodel decreases prolactin, thus preventing suppression of FSH and LHEvaluation of Cervical FactorsSpinnbarkeit Mucus amount increases 10 foldMucus viscosity decreasesCervical 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. Ferning CapacityIncreases with ovulationIndicates estrogen productionHuhner or postcoital examInhospitable mucusInadequate estrogenCervical 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.TreatmentEstrogenIntrauterine inseminationAntibioticsUterine Structures and Tubal PatencyTubal BlockageEndometriosisPrevious STD’sPrevious ectopic pregnancyPrevious BTL with reanastomosis Tubal blockage can result in scarring from the listed disordersTreatmentHysterosalpingography (Hysterogram) – follicular phase Hystesoscopy LaparoscopyIVF – in vitro fertilizationEndometriosisImplantation FactorsHormonal Implantation factorsProgesterone level on post ovulatory day 7Endometrial biopsy 12 days after ovulationTreatmentHormone supplementationSuperovulation Physical Barriers to ImplantationUterine Fibroids Uterine DeformitiesUterine Scarring – Asherman’s SyndromeAsherman’s Syndrome could be due to hyperprolactinemia. The condition is characterized by the presence of endometrial adhesions or scar tissue.TreatmentRemove fibroids; correct deformitiesMale Factors40 % of infertility caused by male aloneReferred to a UrologistSemen analysisNormal parameters> 2 ml total ejaculatepH 7.0 – 8.0> 20 million live sperm per ml ejaculate50% motile and exhibit forward progression> 30% normal spermFrom the bottom of the slideSpecimen is collected after 2-3 days of abstinence. An infertile specimen is one that has:1. fewer than 20 million sperm per milliliter, 2. less than 50% motility at 6 hours, or 3. less than 30% normal sperm forms.See Table 7-4, page 143Causes of Male infertilitySperm production deficienciesEnvironmental factors – increased scrotal heat, lead & pesticide exposureHot tubs or occupations requiring long hours of sitting. Lead and pesticide exposure can also reduce sperm countDrug use – marijuana, alcohol, cocaineMarijuana, alcohol and cocaine depress sperm count and testosterone levels.Cigarette smoking may depress sperm motility.Blockage of delivery systemImmunologic - sperm antibodiesUndescended or damaged testiclesVaricocele – enlargement of veins of spermatic cordTreatment of Male FactorsInseminationVaricocele repairIVF with or without immunosuppression Donor spermShit from SlideVaricocele – 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 TreatmentsPharmacological MethodsClomid Stimulates follicle growthStarting on day 5Side effects – ovarian cysts, bloating, visual disturbances, hot flashesHMG and HCGSecond line of therapy with clomid failure HMG - Stimulates follicular growth HCG - Causes release of follicleParlodel Hyperprolactinemia – inhibits secretion of prolactin, prevents suppression of FSH & LHProgesterone - support the endometrium Lupron Depot, Danocrine – EndometriosisTherapeutic Insemination (Artificial)Husband (THI) or donor (TDI) spermSperm introduced into uterus or at the cervical os through small plastic catheterTimed appropriately with LH surge or HCGSide effects – intrauterine infection, allergic reaction, cramping, nausea, abdominal pain, diarrheaComplicated & expensiveIntracytoplasmic Sperm Injection – inject sperm into ovumMESA – microsurgical epididymal sperm aspirationPESA – percutaneous epididymal sperm aspirationTESA – testicular sperm aspirationRetrieval of sperm in men with azoospermia In-Vitro Fertilization – success rate 31%Down regulate ovariesStimulate ovaries with Gonadotropins Trigger ovulation with HCGOocyte retrieval 34-36 hours after HCGFertilization in LaboratoryEmbryo transferred into fundus on day 5Progesterone supportOther Assisted Reproductive TechniquesGIFT – gamate intrafallopian transferOocyte retrieved and inserted into fallopian tube with sperm, fertilization inside woman’s bodyMore than 1 oocyte or egg retrieved. Usually 2-3 transferredZIFT – zygote intrafallopian transferOocyte retrieved and incubated with sperm – fertilization in laboratoryInserted into fallopian tubeTET – tubal embryo transferTransferred at the embryo stageCryopreservation – frozen embryosDonor OocytesDonor and recipient’s menstrual cycles synchronizedIVF steps with donorArtificially stimulate recipent’s endometrium for implantationOoyctes retrieved from donor, fertilized with sperm, and transferred to recipient’s uterus ComplicationsFinding a donorLegal concernsGestational CarrierOocytes fertilized with husband’s sperm Transferred to third party uterus Birth - baby returned to couple ComplicationsFinding a carrierLegal concernsTexas – the woman who gives birth is the legal motherAdoptionLong waiting periodDecreased number of infants availableExpensiveInternational adoption, older children, children with handicaps or of mixed race Grief and MourningPerceived as a lossFeelings of failure or inadequacyStages of griefProfessional counselingGeneticsChromosomes – tightly coiled strands of DNADiploid44 autosomes and 2 sex chromosomesA set of maternal and a set of paternal chromosomes. In humans the diploid number is 46.HaploidHalf the diploid number of chromosomes or pairsEgg and sperm 23 pairs of chromosomes22 are autosomes and one sex chromosomesKaryotype picture analysis of chromosomes See Figure 7-7, page 152 & Figure 7-8Abnormalities of Chromosome NumberNondisjunction – paired chromosomes fail to separate during cell divisionTrisomy Normal gamate and a gamate that contains an extra chromosomeMonosomy Normal gamate and a gamate with a missing chromosome Mosiacism – nondisjunction occurs after fertilizationDown SyndromeMost common trisomy in childrenIncidence: 1 in 700 birthsCharacteristics: mental retardation, hypotonia, depressed nasal bridge, slant of eyes with epicanthal folds, low-set ears, simian line, increased ulnar loops, congenital heart defectsAbnormalities in Chromosome StructureTranslocationCarrier parent has 45 chromosomes with one fused to anotherAddition or DeletionA portion of a chromosome is added or lostShit from slideA 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 AbnormalitiesTurner Syndrome45 chromosomes, XO with no Barr bodiesOccurs 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.Klinefelter Syndrome47 chromosomes, XXY with 1 Barr bodyAn 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 mlkModes of InheritanceAutosomal Dominant InheritanceOccurs when an individual has a gene that produces an effect whenever it is presentAffected individuals have affected parents50% chance with each pregnancy of passing the abnormal geneMales and females affected equallyGreat variations in degree of characteristics seen within a familyShit from SlideHeterozygous – 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.Autosomal Recessive InheritanceOccurs when an individual has a gene that produces an effect only when there are 2 abnormal genesAffected 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 carrierMales and females affected equallyIncreased risk with intermarriage Shit from slideAutosomal Recessive – Parents my both be carriersExamples – 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.X-Linked or Sex Linked Recessive InheritanceDisorder carried on the X chromosomeX linked disorders manifested only in the male who carries the geneNo male-to-male transmissionAffected 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 SlideSons 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.X-Linked Dominant InheritanceDisorders extremely rareAbnormal gene is dominant and overshadows the normal geneHeterozygous females are affectedNo male-to-male transmissionAffected fathers have affected daughters – no affected sonsShit from slideHeterozygous means impure, not breeding true.Most common – Vitamin D resistant rickets.Fragile X SyndromeCommon form of mental retardation – second to Down Syndrome among all causes in malesCNS disorder linked to a fragile site on the X chromosomeCharacteristics – moderate mental retardation, large protuberant ears, large testes after puberty; females have no abnormal features but are mildly mentally retardedMultifactorial InheritanceCongenital malformations caused by the interaction of many genes and environmental factorsMalformations vary from mild to severeThe more severe the defect, the greater the number of abnormal genesWith environmental influences, fewer genes required to produce the disorderThe 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 SlideExample:Spina BifidaOften there is a sex bias:Pyloric Stenosis – more common in malesCleft Palate – More common in femalesEnvironmental factors: altitude, chemical in the environment.DiagnosisPrenatal diagnosisGenetic UltrasoundGenetic AmniocentesisChorionic Villus samplingMay 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.Percutaneous Umbilical Blood samplingA method to obtain pure fetal blood from the umbilical cord while the fetus is in utero. Allows for rapid chromosome diagnosis.Alpha fetoproteinA 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.Implications of Prenatal DiagnosisPostnatal DiagnosisGenetic Counseling ProcessGoalsProvide informationMake decisionsLearn about diseasePsychological and social impactReferralsCongenital abnormalitiesFamilial disordersKnown inherited diseasesMetabolic disordersChromosomal abnormalitiesFollow-up counselingAutosomal Dominant InheritanceAutosomal Recessive InheritanceX-Linked or Sex Linked Recessive Inheritance ................
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