Procreative Health PDF

NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH PROCREATIVE HEALTH DEFINITION OF TERMS 1. PROCREATION The entire reproductive process of produ...

NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH PROCREATIVE HEALTH DEFINITION OF TERMS 1. PROCREATION The entire reproductive process of producing offspring. The creation of a new human person, by the act of sexual intercourse, by a man and a woman 2. CREATION Creation—making of all things from nothing, by an act of God, at some time in the past. 3. REPRODUCTION The sum of the cellular and genetic phenomena by which organisms produces offspring similar to themselves so that the species is perpetuated. 4. EVOLUTIONARY THEORY Theory that all things came about by the repeated random actions of natural selection, whereby: ✓ Life came into existence, and then ✓ Primitive life evolved into more and more complex organisms, and eventually producing mankind. Evolutionary theory requires the assumption of billions of years for its processes. THEORIES RELATED TO PROCREATION A. CHRISTIAN THEORY OF PROCREATION Man is created in the likeliness of God Man is created to be fruitful and to multiply " Just as man does not have unlimited dominion over his body in general, so also, and with more particular reason, he has no dominion over his specifically sexual faculties..." -Pope Paul VI B. MONOGENETIC THEORY OF PROCREATION Otherwise known as “seminal conception” Men—not men and women—are thought to bring life into this world; thus, only the fathers are the true ‘blood’ relatives of their children (Turkish) They view men literally as creating life in relation to pre-formed fetuses that they carry in their sperm and ejaculate into women’s waiting wombs (Egyptian’s) C. DUOGENETIC THEORY OF PROCREATION Equal contribution of man and woman to the hereditary substance of the fetus, formed through the union of a woman’s ovum and man’s spermatozoa D. “VIEW OF CLEMENT OF ALEXANDRIA” The formation of the conceived matter occurs when the seed (sperm) has mingled with the pure residue of the menses. E. “ARISTOTLE’S CONCEPTION THEORY” The male sperm contains the power that triggers the process of embryonic development, but the sperm itself contributes nothing material to the fetus and vanishes F. THEORY OF EVOLUTION Sexual reproduction allows genetic recombination in order to withstand natural selection and evolve. G. RED QUEEN HYPOTHESIS Greater genetic variation gives sexually-reproducing species better resistance to rapidly adapting diseases and parasites. PROCESS OF HUMAN REPRODUCTION 1. Sexual Intercourse 2. Pregnancy 3. Birth 4. Parental Care NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH PHASES OF HUMAN SEXUAL RESPONSE (Masters and Johnson) 1. EXCITEMENT WOMEN MEN Engorgement of the clitoris Penile erection Vaginal lubrication Thickening of the scrotal skin, increased scrotal sac Erection of the nipple tension, scrotum pulled up towards the body Enlargement of the breast Nipple erection Labia majora flattens and spreads apart Labia minora swells Cervix and uterus pulls up Ballooning” of the upper third of the vagina 2. PLATEAU Vasoconstriction peaks, Increased PR, RR, BP WOMEN MEN Breasts continue to swell Pre-ejaculatory secretion "Orgasmic platform” Complete erection and swelling of the glans Clitoris retracts into the body Uterus enlarges Darkening of the labia majora 3. ORGASM Rhythmic, vigorous contraction of muscles in the pelvic area expels or dissipates blood and fluid from the area of congestion WOMEN MEN One contraction every 0.8 seconds Stages: a. Sensation of ejaculatory inevitability b. Ejaculation 4. RESOLUTION WOMEN MEN ⚬ Internal and external genital organs return to unaroused state ⚬ Sex flush disappears ⚬ Usually takes 15-30 minutes ⚬ Refractory period ⚬ Multiple orgasm NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH Coolidge Effect?? Refractory period?? G spot? INTRODUCTION TO GENETICS DNA Building block of genes and chromosomes Made up of 3 units: a. Deoxyribose b. Phosphate group c. 1 of the four nitrogen bases Carries the information needed to direct protein synthesis and replication GENE Rod shapes structures found in nucleus of a cell that carries the genes that determines the sex and characteristics of a person Among sexually producing organisms, chromosomes occurs i pairs: one inherited from the father and the other from the mother CHROMOSOMES Carries the hereditary information (genes) Arrangement of nucleotides in DNA - DNA → RNA → Proteins GENES AND ALLELES ALLELES PHENOTYPE A (dominant) Dominant a (recessive) Recessive (A > a) THREE COMBINATIONS OF GENES FROM TWO ALLELES AA Aa aa NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH MENDELIAN INHERITANCE Homozygous dominant x homozygous dominant Heterozygous x homozygous recessive Homozygous dominant x homozygous recessive Heterozygous x heterozygous Homozygous dominant x heterozygous INHERITANCE OF DISEASE A. AUTOSOMAL DOMINANT INHERITANCE Characteristics: Occurs when either or both of the parent have a dominant gene(s) of the disease The sex of the affected individuals is not important in terms of inheritance There is a family history of the disease in other family members (vertical transmission) B. AUTOSOMAL RECESSIVE INHERITANCE Disorder occurs only if two genes for the disease are present (homozygous recessive) Characteristics: ⚬ Both parents of the affected child are clinically free of the disease ⚬ The sex of the affected individual is not important in terms of inheritance ⚬ A known common ancestor between the parents sometime exists C. X-LINKED DOMINANT INHERITANCE Disorders where the affected gene(s) is/are located and transmitted only by the X chromosome Characteristics: ⚬ All individuals with the genes are affected ⚬ All female children of the affected men are affected; all male children of affected men are unaffected ⚬ It appears in every generation ⚬ All children of homozygous women are affected; 50% of the children of heterozygous affected women are affected D. X-LINKED RECESSIVE INHERITANCE Characteristics: Inheritance of the genes from both parents (homozygous recessive) is incompatible with life Only males in the family will have the disorder; females are only carriers A history of girls dying at birth for unknown reason exists Sons of an affected man is unaffected The parents of affected children do not have the disorder E. MULTIFACTORIAL OR POLYGENIC INHERITANCE Disorders caused by multiple factors with the involvement of more than a single gene. RISK FACTORS THAT WILL LEAD TO GENETIC DISORDERS A. Familial Factors Parents who have a genetic disease B. Mother’s age A family history of a genetic disease C. Exposure to the environment Parents who do not show disease symptoms, but D. Spontaneous miscarriage or stillbirth "carry" a disease gene in their genetic makeup E. Birth defect in the previous baby Parents who are closely related or part of a distinct ethnic or geographic community COMMON ASSESSMENT TESTS FOR DETERMINATION OF GENETIC ABNORMALITIES 1. FAMILY HISTORY Mother’s age Family genogram Birth defect in the previous baby, spontaneous Diagram detailing family structure, providing miscarriage, or stillbirth information about family’s history Ethnic background NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH 2. PHYSICAL ASSESSMENT Common physical characteristics of children with chromosomal disorder DOWN SYNDROME Late closure of fontanelles Slant of eyes Epicanthal fold Abnormal iris color Large Tongue Abnormal dermatoglyphics Simian crease on palm FRAGILE X SYNDROME Bossing (prominent forehead) Prominent jaw Large hands ❖ TURNER SYNDROME ❖ TRISOMY 13 Low set hairline ▪ Microcephaly Absence of secondary sex characteristics ▪ Low set ears ▪ Multiple hair whorls ❖ KLINEFELTER SYNDROME ▪ Wide set nipples ⚬ Absence of secondary characteristics ▪ Rocker - bottom feet ❖ TRISOMY 18 ▪ Microcephaly ▪ Low set ears ▪ Multiple hair whorls ▪ Wide set nipples ▪ Rocker - bottom feet NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH DIAGNOSTICS AND SCREEN TESTS 1. KARYOTYPING Visual presentation of the chromosome pattern of an individual 2. MATERNAL SERUM SCREENING A. ALPHA-FETO PROTEIN (AFP) Glycoprotein produced by the fetal liver and peaks in maternal serum between 13th-32nd weeks AOG Blood extraction done at the 15th-20th AOG AFP FINDINGS: INCREASED ✓ Neural tube defect ✓ Increased amount of leaked by kidney ✓ Esophageal obstruction ✓ Underestimation of fetal age ✓ Abdominal wall defects ✓ Multifetal gestation ✓ Threatened abortion ✓ Decreased maternal weight ✓ Undetected fetal demise ✓ Maternal IDDM DECREASED ✓ Chromosomal disorder such as trisomy 21 ✓ Gestational trophoblastic disease ✓ Overestimation of gestational age ✓ Increased maternal weight B. PREGNANY ASSOCIATED PLASMA PROTEIN A ANALYSIS It becomes multiple marker screen if MSAFP is included with placental hormone such as: ✓ hCG (2-part screening) ✓ Estriol (3-part-screening) ✓ Inhibin (4-part screening) ** TRIPLE MARKER STUDY Should be done to reduce false-positive results. Moreover, analysis of pregnancy associated plasma protein A and measurement of the fetal neck thickness by sonogram should be done if MSAFP test is (+). 3. CHORIONIC VILLI SAMPLING (CVS) Involves retrieval and analysis of chorionic villi for chromosome or DNA analysis Can be done as early as 5 weeks AOG; commonly at 8-10 weeks AOG Transabdominal vs Transcervical Disadvantages: o At risk for excessive bleeding, leading to pregnancy loss o Limb reduction syndrome o Not all genetic abnormalities can be detected by CVS (eg. extent of spinal cord abnormalities) Nursing Considerations: ✓ Inform of the risks of the diagnostic test ✓ Uterine contractions or bleeding ✓ Secure consent ✓ Administer Rh immune globulin (RhoGAM) ✓ Proper positioning for the procedure; skin with Rh-negative woman after the prep procedure **Post-CVS, instruct mother to report: ✓ Rest at home for 1 day post-CVS ✓ Chills or fever ✓ Sexual restriction for a few days 4. AMNIOCENTESIS Withdrawal of amniotic fluid (20 mL) through the abdominal wall for analysis at 15th-16th week AOG Nursing Considerations: ✓ SECURE CONSENT ✓ PROPER POSITIONING FOR THE PROCEDURE; SKIN PREP ✓ IF >20 WEEKS AOG, ASK PATIENT TO VOID. ✓ Observe for 30 minutes and monitor FHR and labor contractions, bleeding, leakage of AF post amniocentesis ✓ Administer Rh immune globulin (RhoGAM) with Rh-negative woman after the procedure ✓ Avoid strenuous exercises for 1-2 days NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH 5. PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS) CORDOCENTESIS Aspiration of blood from the fetal umbilical cord [commonly the vein] at about 17 weeks AOG using an amniocentesis technique Nursing interventions same as amniocentesis 6. FETAL IMAGING Ex: CT scan, MRI, UTZ Used to assess for general size and structural d/o of the internal organs, spine, and limbs 7. FETOSCOPY Insertion of fiberoptic fetoscope through a small incision in the mother’s abdomen into the uterus and membranes to visually inspect the fetus for gross abnormalities Used to confirm a sonography finding, to remove skin cell for DNA analysis, or to perform surgery for a congenital disorder such as a stenosed urethra PREVENTION OF GENETIC ALTERATION AND CARE OF CLIENTS SEEKING SERVICES BEFORE AND DURING CONCEPTION 1. Assess for heritable disorders to identify the problem Health status of each family members; abnormal reproductive outcomes; history of maternal disorders (DM, PKU, cystic fibrosis); drug exposure; and illness. Advanced maternal and paternal age Ethnic origin 2. If a woman has had several miscarriages, the couple's chromosomes should be analyzed before they try to have another baby. If abnormalities are identified, the couple may choose to have prenatal diagnostic testing early in the next pregnancy 3. Discuss options for diagnostic tests that could help determine if a person is at risk for passing an inherited disorder on to children or is susceptible to a particular genetic disease 4. 4. Infertile couples may pursue genetic counseling to learn whether a genetic condition may be responsible for their reproductive difficulties 5. Prevent fetal exposure Immunization before pregnancy (ex. MMR) or counsel the mother to avoid situations that might jeopardize her health to infectious diseases Eliminate use of non-therapeutic drugs and substances such as alcohol Non-urgent radiologic procedures may be done during the first two weeks after the menstrual period begins, before ovulation occurs. For urgent procedures, the lower abdomen should be shielded with a lead apron if possible 6. Chromosomal analysis is performed on fetal cells, usually when the mother is over age 35 and therefore most at risk for bearing a child with chromosomal abnormalities 7. Manipulate the fetal environment All women of childbearing age should take at least 400 mcg of folic acid daily before conception because this has been found to reduce the incidence of Spina Bifida and other Neural Tube Defects 8. If diagnosis is established, counsel the family about the following: What is known about the cause of the disorder. Explain the progression of the disease and describe the types of treatments required to keep their baby healthy. The likelihood that the disorder will occur or recur in other family members. Availability for prenatal diagnosis of the disorder The ways a couple may be able to avoid having an affected child Availability of treatment and services for the person with disorder. NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH CONGENITAL DISORDER Also known as birth defect or congenital abnormality Abnormality in body structure or function that is present at birth Internal abnormalities or functions can sometimes only be diagnosed weeks or months after birth. CAUSES o Chromosomal abnormalities o Gene abnormalities (single gene defects). These are often inherited from either one parent or both parents o Teratogens RISK FACTORS o Family history o Poly / Oligo Hydramnios o Maternal illness in the 1ˢᵗ Trimester o Persistent Breech presentation o Maternal Diabetes o Multigestational pregnancy o Alcohol / Substance abuse o SGA o Maternal Age > 35 years old CHROMOSOMAL AND GENETIC DISORDERS Disorders that can be passed from one generation to the next as a result from some disorder in the genes or chromosome structure TRISOMY 13 PATAU SYNDROME Extra chromosome 13 Mental capacity: severely cognitively challenged and most do not survive beyond early childhood Incidence: 0.45 per 1,000 live births Death by age of 1 year CLINICAL MANIFESTATION o Midline body disorders: ✓ cleft lip and or palate ✓ heart defects (VSD) ✓ abnormal genitalia o Polydactyly o Microcephaly with forebrain and forehead abnormalities o Multiple hair whorls o Microphthalmos; or no eyes at all Low-set ears TRISOMY 18 Three copies of chromosome 18 Severely cognitively challenged and most do not survive beyond early childhood Incidence: 0.23 per 1,000 live births CLINICAL MANIFESTATIONS o SGA o Low-set ears o Micrognathia o Multiple hair whorls o CHD o Misshapen fingers and toes o Rocker-bottom feet o Severe organ malformation o NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH CRI-DU-CHAT SYNDROME With missing portion of chromosome 5 With malformed larynx and vocal problems Severely cognitively challenged CLINICAL MANIFESTATION o Cat-like cry o Small head o Wide-set eyes o Downward slant to the palpebral fissure of the eyes TURNER SYNDROME Gonadal dysgenesis; 45XO Has only one functional X chromosome Mental capacity: learning disabilities Incidence: 1 per 10,000 live births (females) CLINICAL MANIFESTATIONS o Short stature ; Low-set hairline and at the nape of the neck o Webbed and short neck o Edematous hands and feet o Congenital abnormalities (CoA, kidney d/o) o Streak gonads; Sterility CLASSICAL FEATURES o Short webbed neck o Cubitus valgus o Edema of the extremities MANAGEMENT o Human growth administration to achieve additional height o Estrogen ▪ Development of secondary sex char if started at 13 y/o o Withdrawal bleeding that results in menstruation [unfertile] if taking estrogen 3 out of 4 weeks KLINEFELTER SYNDROME Defining characteristic: males with XXY chromosome pattern (47XXY) Incidence: 1 per 1,000 live births CLINICAL MANIFESTATION o Undeveloped secondary sex characteristics o Small penis and testes; Gynecomastia; Infertility FRAGILE X SYNDROME X-linked disorder in which one long arm of an X chromosome is defective Mental capacity: male (marked deficits in speech and arithmetic; female (poor concentration and impulsive); Incidence: 1 per 1,000 live births CLINICAL MANIFESTATIONS o Males (at puberty) ✓ Maladaptive behavior (hyperactivity and autism) ✓ Bossing forehead, long face with slight high forehead, prominent lower jaw, and large protruding ears ✓ Hyperextensive joints and cardiac d/o [not all]; Enlarged testicles o Female carriers o Some evidence of physical and cognitive characteristics NCM 107: CARE OF MOTHER, CHILD, ADOLESCENT (Well Clients) TOPIC 2: PROCREATIVE HEALTH TRISOMY 21 SYNDROME Down syndrome Three copies of chromosome 21 Risk factors: Pregnancy at 35 y/o or older Paternal age (older than 55 y/o) Cognitively challenged by degree Educable (IQ of 50-70) Profound (IQ of