NUR 475 Maternity Ch 1, 3, 6 Latest updated 2021/2022,100% CORRECT

NUR 475 Maternity Ch 1, 3, 6 Latest updated 2021/2022 Chapter 1-21st Century Maternity Nursing Maternity Nursing Maternity Nursing- encompasses pre-conception, pregnancy, childbirth and the first 6 weeks after birth. ◦ Care givers ◦ Nurses ◦ Nurse practitioners ◦ Nurse midwives ◦ Locations ◦ Offices ◦ Clinics ◦ Home ◦ hospitals ◦ HEALTH DISPARITIES Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. ◦ Linked to ◦ Biologic factors ◦ Environment ◦ Socioeconomic factors ◦ Health behaviors Morbidity the unhealthy state of an individual within a population. Mortality the number of people who died within a population. INITIATIVES TO ELIMINATE DISPARITIES- ◦ Several groups-including- ◦ CDC, NIH, USDHHS CONTEMPORARY ISSUES AND TRENDS HEALTHY PEOPLE 2020 10-year national objectives -science based assessments for improving the health of all Americans 4 goals- (The goals of healthy people 2020 are based on assessment of major risks to health and wellness, changes in public health priorities, and issues related to the health preparedness and prevention of our nation.) 1. attaining high quality 2. achieving health equity 3. creating social and physical environments that promote good health for all. ting quality of life, healthy development and healthy behaviors across all life spans 33 related to maternal, infant, and child health BOX 1.2 pg. 3 ◦ ie: reduce the rate of fetal and infant death, ie: reduce the occurrence of fetal alcohol syndrome- *the only preventable birth defect CONTEMPORARY ISSUES AND TRENDS CON’T 2030 agenda for sustainable development goals (SDG) ◦ 17 goals- also known as Global goals – replaced the MDG (BOX 1.3) Millennium Development Goals (MDG): 8 goals that were to be achieved by 2015, responding to the main development challenges in the world. However, these goals were replaced by the Global goals ◦ Top 5- no poverty, zero hunger, good health and wellbeing, quality education, gender equality ◦ Environment and eliminating poverty- all relevant to childbearing and childrearing INTEGRATIVE HEALTH CARE (Wholistic) ◦ Complementary and alternative therapies INTERPROFESSIONAL EDUCATION ◦ Collaborative learning, interprofessional communication, SBAR (situation- background-assessment-recommendation)**failure to communicate is a major cause of errors. PROBLEMS WITH US HEALTH CARE- DELIVERY SYSTEM ◦ Structure of the system- fragmented, inaccessible and expensive ◦ Reducing medical errors • (3rd leading cause of death in the U.S) ◦ High cost of health care- • (Higher prices, technology, greater obesity) • (NP- only 21 states allow full practice) ◦ Limited access to care • Most significant barrier- Inability to pay • Lack of transportation, child care, insurance ◦ Health care reform- 2010 Patient care and affordable care act ◦ Accountable care organizations- a group of providers and agencies that are accountable for TRENDS IN FERTILITY LOW BIRTH WEIGHT and PRETERM- ◦ LBW 2500g/ 5lbs, 8oz./ preterm before 37 weeks gestation ◦ INTERNATIONAL INFANT MORTALITY TRENDS (6.1/1000)-high number of LBW ◦ MATERNAL MORTALITY (17.3 per 100,00) ▪ WORLD WIDE- 800 women die each day of problems related to pregnancy or childbirth ▪ Leading cause of death-U.S. cardiovascular disease, non-cardiovascular, infection, unsafe abortion ◦ MATERNAL MORBIDITY- (results in high risk pregnancy) ◦ OBESITY ~ 25% in 2014/ risk factors pregnancy induced hypertension (PIH) & diabetes ▪ Decreased fertility, congenital anomalies, miscarriage and fetal death ◦ REGIONAL SERVICES- focuses on intergrated delivery of graded levels of hospital based perinatal health care services. ◦ AMBULATORY CARE- Providers must distinguish themselves by the level of care they provide. ▪ Basic care, specialty care, subspecialty care ◦ HIGH TECHNOLOGY CARE- telehealth care from a distance ◦ COMMUNITY BASED CARE -home setting (technology now used in home and outpatient settings). Also, can have community focus such as homeless shelters and school based clinics. ◦ CHILDBIRTH PRACTICES ▪ Prenatal care ◦ SELF MANAGEMENT- reduces cost, nutrition, stress, smoking, alcohol and drug treatment, prevent violence, education. Improve health and reduce risks associated with poor pregnancy outcomes. ◦ INTERNATIONAL CONCERNS- female genital mutilation, human trafficking, Zika virus, Ebola virus ◦ WOMEN’S HEALTH- heart disease, breast cancer, age, violence THE FUTURE OF NURSING ◦ INSTITUTE OF MEDICINE (IOM)- 4 key messages 1. Nurses should practice to the full extent of their education 2. achieve higher levels of education 3. full partners with provider 4. effective workplace planning and policy making ◦ Nurses should practice to the full extent of their education, achieve higher levels of education, full partners with providers, planning and policy making ◦ TRENDS IN NURSING PRACTICE- specialization ◦ NURSING INTERVENTIONS- common language- care interventions (BOX 1.8) ◦ EVIDENCE BASED PRACTICE- providing care based on evidence gained through research and clinical trials. AWHONN (assoc. of women’s health, obstetric and neonatal nurses, WHO (world health org.) QSEN (quality and safety education for nurses) ◦ OUTCOMES ORIENTED PRACTICE-( ie: the effectiveness of interventions and quality of care)- assesses if the patient benefitted from care. Outcome and Assessment Information Set (OASIS) Nursing Outcomes Classification (NOC) ◦ GLOBAL PERSPECTIVE- getting more information throughout the word ( included in nursing journals etc) on diseases such as HIV/AIDS, Zika virus/ medical outreach/ WHO STANDARDS OF PRACTICE AND LEGAL ISSUES ◦ PREVENTION OF ERRORS- Joint commission list of abbreviations NOT to use table 1.3 ◦ **ie: magnesium sulfate NOT MgSO4 ◦ ETHICAL ISSUES ◦ TECHNOLOGY ◦ SCIENTIFIC ADVANCES ◦ INFORMED CONSENT ◦ REPRODUCTIVE TECHNOLOGY ◦ In vitro fertilization, multifetal pregnancy reduction, menopausal women, HIV positive, rights of the embryo, cloning ◦ INNOVATION AND ALLOCATION OF RESOURCES ◦ Intrauterine fetal surgery, therapeutic insemination, stem cell research, genetic engineering, surrogate childbearing, treatment of VLBW **consult the agency’s policies if unsure of how to perform a procedure- they are the standards of care. CHAPTER 3 ASSESSMENT AND HEALTH PROMOTION Barriers to Entering the Health Care System Financial issues ◦ Racial and socioeconomic disparity-limited finances is associated with lack of access to care and delay in seeking care. Cultural issues- Community focus – language, trust, disrespect, diverse groups Constantly changing demographics ◦ Nurses provide culturally sensitive and competent healthcare. ◦ Some women do not seek care because of the lack of trust. Gender issues ◦ Sexual orientation Caring for Women Across the Life Span ◦ Disease prevention ◦ Adolescents- Vaginitis, Pap tests, STI’s Pregnancy and contraception ◦ Teenage pregnancies- sexually active teen NOT using contraception has a 90% chance of pregnancy within 1 year ◦ Young and middle adulthood- may use their OB/Gyn as a Primary Care Physician, Promote a healthy lifestyle ◦ Late reproductive age- increased levels of depression, health maintenance screening important, breast and ovarian cancer occur more often during this stage. ◦ Preconception counseling and care- how to avoid unintended pregnancies, identify and manage risk factors, including mental health issues, identify healthy behaviors- well- being for potential fetus. Box 3.2 ◦ Pregnancy- early and consistent care throughout the pregnancy is recommended ◦ Fertility control and infertility- family planning choices ◦ Menstrual problems- more detail in chapter 4- amenorrhea, dysmenorrhea, PMS ◦ Perimenopause Identification of Risk Factors Social, cultural, genetic- ◦ ie: sickle cell anemia in A.A., Tay- Sachs disease in Ashkenazi Jews, Cystic fibrosis in northern Europeans ◦ Cultural and religious influences ◦ Socioeconomic status- the rates of perinatal and maternal deaths, preterm births, and low birth weight babies are considerably higher in disadvantaged populations Substance use and abuse ◦ Prescription drug use- 2% of American women use sleeping pills, traquilizers and pain relievers. ◦ Illicit drug use ◦ Marijuana- crosses the placenta- reduces O2 supply to fetus ◦ Cocaine- causes vasoconstriction (baby not getting enough O2)- increases incidence of miscarriage, preterm labor, small for gestational age, Abruptio placenta (placenta goes away from the uterine lining and that means no O2 for the baby), still birth, anomalies ◦ Opiates- Heroin, morphine, codeine, methadone. Women have a 6X higher risk for problem outcomes ◦ Methamphetamine- CNS stimulant-meth, speed- heart problems, irregular heart beat and hypertension- preterm birth, Intra Uterine Growth Restriction with smaller head circumference ◦ PCP-major concern in pregnant women is its association with polydrug use and nerobehavioral effects on the neonate. ◦ Alcohol consumption- ◦ About 1/3 of alcoholics are women ◦ FAS (fetal alcohol syndrome) ~ 40,000 babies born, low birth weight, behavioral problems (don’t realize until they start school), intellectual disability- birth defect that’s caused from the mother ◦ Cigarette smoking- ◦ Causes vasoconstriction (constriction of the blood vessels, placenta isn’t working correctly, baby isn’t getting enough o2), decrease in placental perfusion and is one cause of low birth weight ◦ Caffeine- increase risk of miscarriage- March of Dimes recommends no more than 8 oz of caffeine drink/day Nutritional problems ◦ Nutritional deficiencies ◦ Diet low iron and folate (folic acid) could lead to Neural tube defects ◦ Folate prevents NTD- want to make sure mother is taking this - Obesity (BMI 30.0-34.5) BOX 3.5 ◦ Eating disorders- Anorexia, Bulimia nervosa ◦ Lack of exercise Stress- BOX 3.7 ◦ Mental health conditions- depression, anxiety ◦ Sleep disorders ◦ Environmental and work place hazards ◦ Risky sexual practices ◦ Risk for certain medical or gynecologic conditions- PIH endometriosis, uterine fibroids ◦ Female genital mutilation Violence Against Women ◦ Human trafficking- form of slavery in which people are forced into US in order to become part of the unpaid labor force, usually in sweatshops or in domestic work or sex slaves. ◦ Intimate partner violence (IPV) ◦ IPV is the most common form of violence experienced by women worldwide with a reported incidence of 1 in 6 women being a victim of domestic violence ◦ Physical or emotional abuse ◦ Sexual assault ◦ Isolation ◦ Controlling all aspects of the woman’s life ◦ Money ◦ Shelter ◦ Time ◦ Food Cycle of violence- usually when women is pregnant ◦ Phase 1: Tension building ◦ That her experiences increased tension, victim minimizes problems ◦ Tension becomes intolerable ◦ Phase 2: Abusive incident ◦ Batterer highly abusive, incident occurs ◦ Phase 3: Honeymoon period ◦ Loving, apologetic, promises change Battering during pregnancy ◦ Rates range from 4% to 8% and may be as high as 20% in some populations ◦ Incidence of intimate partner violence may escalate ◦ May happen for the first time during pregnancy ◦ Risk to the fetus includes increased rate of miscarriage, preterm birth, and stillbirth ◦ Screening intimate partner violence- (Box 3-10- Signs of IPV) ◦ Patient should be interviewed alone ◦ Look for unexplainable or untreated injuries – various parts of the body and different stages of healing. ◦ Injuries that don’t match the description Assessment of the Woman ◦ Interview- routine history and physical ◦ Ways to encourage sharing information- (Holistic approach) ◦ Facilitation-Reflection-Clarification-Empathic responses-Confrontation- Interpretation ◦ History ◦ Biographic data ◦ Reason for seeking care ◦ Present health or history of present illness ◦ Past health ◦ Family history ◦ Screen for abuse ◦ Review of systems ◦ Functional assessment ◦ Physical examination- pelvic exam ◦ General appearance-Vital signs-Objective data is recorded by body systems- Findings are described in detail Cultural considerations and communication variations ◦ Trust that woman is expert on her life, culture, and experiences ◦ If asked with respect and genuine desire to learn, woman will tell nurse how to care for her ◦ May be considered inappropriate for woman to disrobe completely for physical examination ◦ In many cultures a female examiner is preferred Women with special needs- disabilities, adolescents (13-19) Health Screening for Women Across the Life Span Laboratory and diagnostic procedures- some examples- ◦ Mammogram- annually after age 40 (some PCP recommend 1st mmg at age 35 then return at age 40 and return annually after that) ◦ STI screening- if sexually active, yearly until age 25; after 25 test when needed or new, multiple partners ◦ Chest x-ray ◦ Hearing- start at age 18 and repeat every 10 yrs until age 49 ◦ Lipid profile- start at age 20 if at increased risk of heart disease ◦ DEXA scan- checks the hip and spine for osteoporosis- postmenopausal women ◦ Drug screening, HIV, Hep B needs informed consent Internal structures- need to know and pics ◦ Vagina- fibromuscular, collapsible, tubular structure that les between the bladder and rectum and extends from the vulva to the uterus. Serves as a passageway for menstrual flow as well as female organ of copulation and as part of birth canal for vaginal deliveries. ◦ Uterus-a muscular pear-shaped (like an upside down pear) organ that sits midline in the pelvic cavity between the bladder and rectum and above the vagina. 4 pairs of ligaments support the uterus (cardinal, uterosacral, round, and broad). Uterus is divided into 2 parts- upper triangular portion (corpus) and the lower cylindric portion (cervix). The fundus is the dome-shaped top of the uterus and is the site where uterine tubes (fallopian tubes) enter the uterus. The uterus serves for reception, implantation, retention and nutrition to the fertilized ovum and later known as the fetus during pregnancy and for expulsion of the fetus during childbirth. Also, is responsible for cyclic menstruation ◦ Cervix- made up of mostly fibrous connective tissues and elastic tissue making it possible to stretch during vaginal childbirth ◦ Fallopian tubes- attach to the uterine fundus. The tubes are supported by the broad ligaments and range from 8 to 14 cm in length, tubes are divided into 4 sections- interstitial portion (closest to the uterus), isthmus and ampulla (middle portion) and infundibulum (closest to the ovaries and the uterus for movement of the ovum). ◦ Ovaries- almond shaped organs located on each side of the uterus below and behind the uterine tubes (fallopian tubes). During reproductive years they are ~3cm long, 2cm wide and 1 cm thick; they diminish in size after menopause. Before menarche, ovaries are smooth, after menarche they are nodular because of repeated rupture of follicles at ovulation. External structures ◦ Mons pubis- fatty pad that lies over the anterior surface of the symphysis pubis. ◦ Labia majora- two rounded folds of fatty tissue covered with skin that extends downward and backward from the mons pubis. Highly vascular, protect inner vulvar structures. ◦ Labia minora- two flat, reddish folds of tissue, visible when the labia minora are separated. No hair is present, sebaceous follicles and few sweat glands are present. Composed of connective tissue and smooth muscle with extremely sensitive nerve endings. ◦ Clitoris- small structure composed of erectile tissue with numerous sensory nerve endings. During sexual arousal, the clitoris increases in size, located underneath the prepuce. ◦ Vaginal vestibule- almond shaped area enclosed by the labia minora that contains openings to the urethra, Skene glands, vagina and Bartholin glands. ◦ Vaginal orifice/opening- located in the lower portion of the vestibule and varies in shape and size. ◦ Urethral opening- located 2.5cm below the clitoris. ◦ Perineal body- the perineum forms the base of the perineal body; a wedge- shaped mass that serves as an achor for the muscles, fascia and ligaments of the pelvis. Bony pelvis 3 Primary Purposes: 1. Protection of pelvic structures 2. Accommodation of growing fetus during pregnancy 3. Anchorage of pelvic support structures ◦ Pelvic ossification is complete ~20 years ◦ Ishal spine- most narrow part of pelvis ◦ Divided into 2 parts: ◦ False pelvis- upper portion above the pelvis brim or inlet ◦ True pelvis- lower, curved, bony canal, which includes the inlet, the cavity and the outlet in which the fetus passes during vaginal birth Breasts Structure Function ◦ Mammary gland composed of several lobes, divided into lobules ◦ Lobules are clusters of acini ◦ Acinus is a saclike terminal part of a compound gland emptying through a narrow lumen or duct ◦ Acini are lined with epithelial cells that secrete colostrum and milk ◦ Lactation ◦ Physiologic alterations in breast size reach minimal level about 5 to 7 days after menstruation stops ◦ Breast self-examination best carried out during this phase of menstrual cycle Menstruation ◦ Menarche- 1st menstruation in U.S. girls ~13 yrs. ◦ Puberty- broader term- the entire transitional stage between childhood and sexual maturity ◦ Menstruation-periodic uterine bleeding that begins ~ 14 days after ovulation. Prostaglandins ◦ Oxygenated fatty acids classified as hormones- the different kinds of PGs are distinguished by letters (PGE and PGF), numbers (PGE2) and letters of the Greek alphabet (PGF2a). ◦ They are produced in most organs of the body, including the uterus. Menstrual blood is a potent PG source. ◦ PG play an important role in many physiologic, pathologic, and pharmacologic reactions. ◦ Effects on: ◦ Ovulation (KEY ROLE), Fertility, Changes in cervix and cervical mucus, Tubal and uterine motility, Sloughing of endometrium (menstruation), Onset of abortion (spontaneous and induced), Onset of labor (term and preterm) Menstruation Menstrual cycle-periodic uterine bleeding that occurs approximately 14 days after ovulation. It is controlled by a feedback system of 3 cycles- Endometrial Hypothalamic Ovarian Endometrial cycle- 4 phases Menstrual phase- shedding of the functional two thirds of the endometrium (compact and spongy layers) is initiated by periodic vasoconstriction in the upper layers of the endometrium. Proliferative phase- period of rapid growth lasting from 5-14 days or slightly before bleeding ceases. Leveling off ovulation growth. Secretory phase- extends from the day of ovulation to about 3 days before the next menstrual period. (Implantation of fertilized ovum generally occurs about 7-10 days after ovulation) Ischemic phase- blood supply to the functional endometrium is blocked and necrosis develops, creating day 1 of next cycle. ◦ Hypothalamic-pituitary cycle- stimulated release of gonadotropin-releasing hormone (GnRH) and follicle-stimulating hormone. FSH stimulates the development of graafian follicles and their production of estrogen. ◦ Ovarian cycle-primary follicle, Graafian follicle, (ovulation) Egg, Corpus luteum, Degenerating corpus luteum ◦ Other cyclic changes-before ovulation the woman’s basal body temp is less than 37C (98.6F) after ovulation, with increasing progesterone levels, temp rises. Changes in cervix and cervical mucus follows a predictable pattern. Preovulatory and postovulatory mucus is viscous (thick) so sperm penetration is discouraged. DURING ovulation, cervical mucus is thin and clear, looks, feels stretchable like an egg white (spinnbarkeit). Some woman has spotting and lower abdominal pain (mittelschmerz) Day 1- first day of bleeding NEED TO KNOW: Day 1-5- menstruation occurs(bleeding) Day 5-14- increase in estrogen (Proliferative Phase or Follicular Phase) Day 14- Ovulation- when egg is released from ovary, LH, FHS is highest (peak) Day 14-25- Secretory Phase or Luteal Phase- increase in Progesterone, implantation occurs if ovum is fertilized, implants in uterus Day 25-28- Estrogen and Progesterone decrease known as Ischemic Phase, getting ready to start menstruation Day 28- stop bleeding There is still a chance of getting pregnant after ovulation!! Climacteric and menopause ◦ Climacteric ◦ Transitional phase during which ovarian function and hormone production decline ◦ Spans the years from onset of premenopausal ovarian decline to postmenopausal time, when symptoms stop ◦ Menopause ◦ Refers to the last menstrual period ◦ Dated with certainty 1 year after menstruation ceases ◦ Average age 51.4 years old ◦ Range of ages 35 to 60 years old ◦ Ovary stops producing estrogen ◦ Perimenopausal- time BEFORE menopause (last 4 yrs, ovarian function decline- result in menses no longer occurring, irregular menses (ova slowly diminish) decrease in ESTROGEN- this is why woman start HRT ◦ Menopause- DURING menopause ◦ Postmenopausal- time AFTER menopause Chapter 6 Genetics, Conception and Fetal Development Genetics • STUDY OF A PARTICULAR GENE • Provides the tools to determine the hereditary component of many diseases • Improves our ability to predict susceptibility, onset, progression, and response to treatment • Genetic disease affects all people Genomics- study of the entire genome Genome- entire set of genetic instructions found within a cell Genes: basic physical units of inheritance that are passed from parents Nursing Expertise in Genetics and Genomics • Expanded roles • Preconception counseling and testing • Neonatal genetic screening and testing • Palliative care for infants with life-threatening conditions • The identification and care of individuals with genetic conditions • Specialized care of women with genetic conditions during pregnancy • Congenital heart disease • Cystic fibrosis • Factor V Leiden Essential Competencies • Essential Nursing Competencies Guidelines for Genetics and Genomics • Collects family history information • Develops plan of care that incorporates genetics assessment • Provides patients with genetic information, resources, and services • Facilitates referrals for specialized services • Evaluates the impact and effectiveness of genetic and genomic technology, interventions, and treatments Human Genome Project • The human genome-complete set of genetic instructions in the nucleus of each human cell. • Two key findings of the project were • All human beings are 99.9% identical at the DNA level • There are approximately 20,000 genes in the human genome • Genetic testing • Prenatal tests Ethical, legal, and social implications (ELSIs) • Privacy and fairness in use and interpretation of genetic information • Clinical integration of new genetics technologies • Issues such as possible discrimination and stigmatization Factors influencing decision to undergo genetic testing • Seldom autonomous- based soley on the needs and preferences of the individual being tested • Socioeconomic factors- “social norms” where care is received • Cultural and ethnic differences-wide spread of genetic testing introduced to new groups of women who have not previously considered genetic testing. Clinical Genetics- need to know • DNA- deoxyribonucleic acid • Chromosomes- DNA that form threadlike strands • Genes- coded information that determines an individual’s unique characteristics • Homologous chromosomes (except for the X and Y in males) have the same number and arrangement of genes. • Autosomes- 22 pairs of autosomes which control most traits in the body with only 1 pair of sex chromosomes. • Sex chromosomes- Larger Female chromosome is called X, smaller male chromosome is Y • Loci- fixed location on a chromosome- genetic marker • Alleles- Genes at corresponding loci on homologous chromosomes that code for different forms or variations of the same trait • Homozygous- An individual having two copies of the same allele for a given trait • Heterozygous- a person with two different alleles • Genotype – an individual’s genetic makeup • Phenotype- physical observation or expression of an individual’s genotype, such as physical features, biochemical or molecular traits and even psychologic traits. • Dominant- a trait or disorder is considered dominant if expressed or phenotypically apparent when only one copy of the gene is present. • Recessive- expressed only when two copies of the alleles associated with the trait are present. • Karyotype- The pictorial analysis of the number, form, and size of an individual’s chromosomes including sex chromosomes Chromosomal abnormalities-abnormal # of chromosomes • A major cause of reproductive loss, congenital problems, and gynecologic disorders • Can occur during mitosis (somatic cell) or meiosis (sex cells) • Mitosis- cell division in somatic cells results in 2 identical daughter cells containing diploid # of chromosomes • Meiosis- division of sex cells into 2 and 4 haploid cells • Euploid cell- cell with the correct or NORMAL number of chromosomes within a cell. • Haploid – (1N, 23 chromosomes) MOST gametes • Diploid- (2N, 46 chromosomes), both considered euploid cells • Polyploidy- deviation in the exact multiple haploid number of chromosomes or one chromosome set (23 chromosomes) • Aneuploidy- numeric deviation is NOT an exact multiple of the haploid set. MOST COMMON identified chromosomal abnormality- leading to cause of intellectual disability • Monosomy- product of the union between a normal gamete and gamete that is missing a chromosome. 45 chromosomes in each of their cells. • Trisomy- product of a union of a normal gamete with a gamete containing an extra chromosome. 47 chromosomes in most or ALL of their cells. • Abnormalities of chromosome structure • Translocation- occurs when there is a exchange of chromosomal material between two chromosomes. • Reciprocal translocation- most common. Either the parts of the two chromosomes are exchanged equally (balanced translocation) or a part of the chromosome is transferred to a different chromosome, creating an unbalanced translocation because there is extra chromosomal material (extra of one chromosome but correct amount or deficient amount of the other chromosome). • Balanced translocation- individual iis phenotypically normal because there is no extra chromosome material; it is just rearranged. • Robertson translocation- the short arms (p arms) of two different acrocentric chromosomes (chromosomes with very short p arms) break, leaving sticky ends that then cause the two long arms (q arms) to stick together. • Autosomal abnormalities- need to know • Abnormalities of chromosome number • Down syndrome (Trisomy 21) extra chromosome 21 • Trisomy 18- (Edwards syndrome) intellectual disabilities Sex chromosome abnormalities • Turner syndrome- The affected female exhibits juvenile external genitalia with undeveloped ovaries, short stature and often webbed hands or feet, a low hairline and lyphedema of hands or feet- In most cases- is the paternal X or Y that is lost • Also called Monosomy X (45, X) • Klinefelter’s syndrome- The affected male has poorly developed secondary sexual characteristics and small testes. He is infertile, usually tall, and effeminate and may be slow to learn. ( mosaic Klinefelter syndrome may be fertile) • Also called Trisomy XXY Patterns of Genetic Transmission Unifactorial- A single gene controlling a trait, disorder, or defect ◦ Autosomal dominant inheritance- only one copy of a variant allele is needed for phenotypic expression. The variant allele may be a result of a mutation. Ie: Marfans syndrome (People with this condition are usually tall and thin. They may have long legs, fingers and toes), Achondroplasia- aka: Dwarfism (Short stature, slow growth, delayed development. ◦ Autosomal recessive disorder- both genes of a pair associated with the disorder must be abnormal for the disorder to be expressed. Ie: phenylketonuria, maple syrup urine disease (MSUD), Tay Sachs Disease (metabolic genetic disorder which shows a progressive deterioration of mental and physical abilities due to nerve damage in brain and spinal cord), sickle cell anemia (inherited blood disorder where red blood cells (RBCs) become sickle/crescent nt is irritable, severe fatigue, infection and vision problems) and Cystic Fibrosis (CF)- genetic disorder, in which the lungs and the digestive system get clogged with mucus • Inborn errors of metabolism- gene mutation reduces efficiency of encoded enzymes to a level of which normal metabolism can’t occur. • X-linked dominant inheritance- occurs in males and heterozygous females, because of the x inactivation females are usually less severely affected then males are. Females have more chance of transmitting it to their offspring and if the offspring of that female is a male they usually die. However, if the male somehow transfers to a male off spring it has more of a chance of living. • X-linked recessive inheritance- carried on the X chromosome. Females can be hetero or homozy since they have two X chromsomes, males are hemizygous. X linked recessive disease demonstrated in males with abnormal gene on his single x chromosome. Most common for male is color blindness (Hemophilia) another is muscular dystrophy. Multifactorial • Most common genetic malfunction • Combination of environmental and genetic factors • Examples: • cleft lip, congenital heart disease, neural tube defects etc • Can be mild to severe Genetic Counseling Standard practice in obstetrics ◦ Maternal serum marker screening (AFP) (15- 21 weeks gestation) • High levels- open neural tube defects. During early development, the neural tube gives rise to the brain and spinal cord. Improper closure of the neural tube during development can result in birth defects such as spina bifida and anencephaly. • Low levels- decreased AFP levels were associated with Down syndrome Genetic counseling ◦ Information ◦ Education ◦ Support Estimation of risk ◦ Occurrence risk ▪ Parents are known to be at risk for producing a child with disease ◦ Recurrence risk ▪ Once they have produced a child with disease ◦ Interpretation of risks Gametogenesis and fertilization • Cell division and Conception • Cell division • Mitosis- cell division occurring in somatic cells that results in two identical daughter cells containing a diploid number of chromosomes • Meiosis- division of sex cells into two and four haploid cells • Gametogenesis- process in which cells undergo meiosis to form gametes. • Spermatogenesis- male reaches puberty and spermatocytes (cells in males) undergo meiosis • Process of spermatogenesis: primary spermatocyte (contains diploid number 46 chromosomes) undergoes meiotic division and then two haploid spermatocytes forms with the haploid number ( 23 chromosomes, 22 autosomes and 1 sex chromosome). After the next division there will be 2 spermatids with two having x chromosome and 2 having y chromosome then turns into sperm. • Oogenesis-process of the egg (ovum) formation, begins during fetal life of the female. • Process of Oogenesis: primary oocyte begin the 1st meiotic division (means replicate their DNA) during fetal life but are suspended until puberty. Monthly one primary oocyte matures and completes the meiotic division yielding two unequal cells, the two unequal cells are the secondary oocyte and the first polar body. Both of these cells do contain 22 autosomes and X sex chromosome. At ovulation the second meiotic division begins but it does not complete unless fertilization occurs. (When fertilization does occur sperm is united with mature ovum and second polar body and zygote ( united egg and sperm) are produced, the 3 other polar bodies degenerate. • Conception- union of single egg and sperm, marks beginning of pregnancy • Ovum (egg) CAN NOT move by itself the cilia in the uterine tubes propel it toward the uterine cavity). High estrogen levels allows for the uterine tubes to propel it. Outer protective layer is the corona radiata, inner layer is the zona pellucida. Ova are considered fertile for about 24 hours after ovulation. If unfertilized by sperm within that 24 hours than it degenerates and is reabsorbed. • Sperm (200-500 million sperm in a teaspoon of semen, are viable for an average of 2-3 days) Fertilization- takes place in the ampulla (outer third) of the uterine tube or flupian tube (same thing) • Morula- 16-cell morula, a solid ball of cells, is produced within 3 days and is still surrounded by the protective zona pellucida. Further development occurs as the morula floats freely within the uterus. • Blastocyst cavity- a cavity within the cell mass as the spaces come together, forming a structure • Blastocyst- when the cavity becomes recognizable, the whole structure of the developing embryo is known as this. Ste cells are derived from the inner cell mass of the blastocyst. • Implantation- usually occurs 6-10 days after conception • Chorionic villi- fingerlike projections, develop out of the trophoblast and extend into the blood-filled spaces of the endometrium. These are vascular and obtain oxygen and nutrients from the maternal bloodstream and dispose of carbon dioxide and waste products into the maternal blood. • Decidua basalis- after implantation, the endometrium is called the decidua. The portion directly under the blastocyst, where the chorionic villi tap into the maternal blood vessels, is called decidua basalis. • Embryo and Fetus • Primary germ layers (pg. 135) • Ectoderm- upper layer of embryonic disk, gives rise to the epidermis, glands, nails and hair CNS and PNS , lens of eye, tooth enamel, and floor of amniotic cavity • Mesoderm- middle layer, develops into bones and teeth, muscles ( skeletal, smooth and cardiac), dermis, connective tissue, cardiovascular system and spleen and urogenital system • Endoderm (entoderm)- lower layer gives rise to the epithelium lining the respiratory tract, digestive tract, including the oropharynx, liver and pancreas, urethra bladder and vagina. • Development of the embryo- last from day 15 to week 8 to develop the embryo. This is the most crucial time and at the end of the 8th week all organ systems and external structures are present. • Membranes • Chorion- develops from the trophoblasts it becomes the covering of the fetal side of the placenta. Contains the major umbilical blood vessels • Amnion (develops from interior cells of blastocyst) and amniotic cavity- Developing embryo draws the amnion around itself to form a fluid- filled sac. Amnion covers the umbilical cord and the chorion. Amnion grows with embryo. • Amniotic fluid- very important!!-gets fluid from diffusion from maternal blood. And the baby secretes respiratory and GI into the fluid. the volume changes frequently the baby is drinking the fluid also releasing fluid into the fluid. • Serves numerous functions- maintains constant body temp, source of oral fluid and assists in maintenance of fluid and electrolyte homeostasis. Serves as waste dump for baby. Cushions the fetus, allows for freedom of movement for musculoskeletal growth, barrier to infection and allows lung development and prevents tangling. • Volume is important to fetal well-being • Too much- hydramnios or polyhydramnios (to much) • Too little- oligo (too little) hydramnios (amniotic fluid), something wrong with baby’s kidneys (not excreting enough fluid) • Yolk sac • Becomes primitive digestive system after fourth week. (in the beginning weeks, blood cells and plasma are manufactured there transferred only in beginning, eventually turns into actual digestive system of baby). • Umbilical cord • Supplies the embryo with maternal nutrients and oxygen • Wharton’s jelly ( connective tissue) prevents compression of the blood vessels • Nuchal cord is when the cord is wrapped around the fetal neck • Placenta Structure • Maternal-placental-embryonic circulation by day 17. (embryonic heart starts beating) Placenta serves as metabolic exchange Function • Endocrine gland- early function produces four hormones necessary to maintain the pregnancy and support the fetus. • hCG hormone preserves the function of the ovarian corpus luteum, supplies estrogen and progesterone needed for the pregnancy. • hCs OR HpL stimulates maternal metabolism to supply needed nutrition for fetal growth. It also increases resistance to insulin, facilitates glucose transport across placenta membrane and stimulates breast development for lactation. • Progesterone maintains the endometrium and decreases the contractility of the uterus stimulates maternal metabolism, and development of breast alveoli. • Metabolic function and waste- respiration, nutrition, excretion and storage. Placenta functions as the lungs of the fetus (oxygen diffuses from maternal blood across the placenta membrane and CO2 diffuses in the opposite direction). Waste from the fetus goes from the fetal blood to the placenta to mother’s blood then out through her kidneys. • Nutrient storage- carbs, protein calcium and iron are stored in the placenta. Everything else is passed from the maternal blood into the placenta • Fetal maturation (TABLE 6-1 pg. 143-146) last from 9 weeks until pregnancy ends • Viability- Capability of fetus to survive outside the uterus. However, there are Limitations based on CNS function and oxygenation capability of lungs. • Fetal circulatory system • FHR 110 to 160 beats/min • Hematopoietic system- (the formation of blood occurs in the yolk sac) • Respiratory system- lungs do not function in fetus so there is a gas exchange between mother’s blood and placenta through umbilical • Primary surfactants- lines respiratory tract of fetus. These surfactants can also let HCP know the chance of the fetus being able to breathe outside of placenta • Gastrointestinal system- mature by 36 weeks • Hepatic system- bile forms in 12th week • Renal system- form in the 5th week and begin to function about 9th week Fetal maturation (TABLE 6-1 pg. 143-146) • Neurologic system • Sensory awareness. Fetal responds to sound by 24th week. Fetus can see • Endocrine system- thyroid develop along with head and neck during 3-4 weeks. Adrenal cortex forms 6th week, pancreas forms during 5-8th weeks. • Reproductive system- appear around the 9th week and are fully differentiated by the 12th week • Musculoskeletal system- bones and muscles develop from the mesoderm by 4th week. Cardiac muscle is already beating. Leg and arm movement are visible on U/S but mother doesn’t feel baby move until 16-20 weeks. • Integumentary system- epidermis- • Vernix caseosa- material that protects the skin of the fetus (thick at 24 wks then scant at term) • Lanugo- very fine hairs, appear at 12 weeks on the eyebrows and upper lip, by 20 weeks it covers the entire body. • Immunologic system- 3rd trimester, albumin and globulin are present in the fetus. The ONLY immunoglobulin (Ig) that crosses the placenta, IgG, provides passive acquired immunity to specific bacterial toxins. Multifetal pregnancy • Twins • Monozygotic twins (one egg then it splits) one fertilized ovum, identical twins, same sex, same genotype • Conjoined twins- Siamese twins, physically connected to each other. Early embryo only partial separates to form two individuals • Dizygotic Twins: (two eggs, two sperm, two different humans growing together) not sharing same egg. 2 mature ova that are both fertilized by separate sperm, 2 amnions, 2 chorions and 2 placentas that may be fused. They are not twins just siblings but sometimes called fraternal twins. Other multifetal pregnancies- the occurrence with 3 or more fetuses has increased with the use of fertility drugs and in vitro fertilization Nongenetic Factors Influencing Development • Teratogens- has the greatest effect on the organs and parts of the embryo during its periods of rapid growth and differentiations. • Drugs • Chemicals • Infection • Exposure to radiation • Maternal conditions • Maternal nutrition • Malnutrition- can produce LBW and newborns can be susceptible to infections. Can also affect brain development during latter half of gestation and can result in learning disabilities in the child. Inadequate FOLIC ACID is associated with NTD.