My Families With Special Reprodu by fjzhangxiaoquan


									                                 Families With Special Reproductive Concerns

   Infertility
        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
        o 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
   Evaluation
        o 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
                         *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
                           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 Dysfunction
        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.
                 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 heavy
        o 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 Factors
        o 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 Patency
        o Tubal Blockage
                 Endometriosis
                 Previous STD’s
                 Previous ectopic pregnancy
                 Previous BTL with reanastomosis
                Tubal blockage can result in scarring from the listed disorders
       o Treatment
                Hysterosalpingography (Hysterogram) – follicular phase
                Hystesoscopy
                Laparoscopy
                IVF – in vitro fertilization
                Endometriosis
   Implantation Factors
       o 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 Factors
       o 40 % of infertility caused by male alone
       o Referred to a Urologist
       o 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 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 Insemination
        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.
   Infertility Treatments
        o 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,
                   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 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
        o Complications
                 Finding a donor
                 Legal concerns
   Gestational Carrier
        o 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 period
        o Decreased number of infants available
        o Expensive
        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
   Genetics
        o 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
                   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 chromosome
        o Mosiacism – nondisjunction occurs after fertilization
   Down Syndrome
        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
        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 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
           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
         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 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
                         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.
   Diagnosis
        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
       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

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