Maternity 6-2 Flashcards
AUTOSOMES - how many?
22 pairs of AUTOSOMES (any chromosome not a sex hormone)
how many sex chromosomes
1 pair of sex chromosomes
chromosome
how you get your genes from your parents. located in nucleus.
genes are a
portion of DNA
GENOTYPE
GENOTYPE = the genetic makeup of an individual when discussing a specific gene pair (can also be used to refer to an individual’s entire genetic makeup)
PHENOTYPE
PHENOTYPE = the observable expression of an individual’s genotype, such as physical features, a biochemical or molecular trait, or a psychological trait.
DOMINANT
DOMINANT = expressed (or phenotypically apparent) when only one copy of an allele is associated with the trait present.
RECESSIVE
RECESSIVE = expressed only when two copies of the alleles associated with the trait are present.
Karyotype (number forms the size of kary)
Pictorial analysis of number, form, and size of an individual’s chromosomes
Commonly uses white blood cells and fetal cells in amniotic fluid. used to test for diseases. what’s individual to you.
how do we get chromosomal abnormalities? (3 things)
Inherited
Spontaneous
Acquired
abnormality of chromosomal number (somi is abnormal)
Monosomies (just one); trisomy’s (one extra, 3)
Polyploidy
abnormality of chromosome structure (dit structure)
Deletions
Inversions
Translocations
sex chrome abnormality
ambiguous gender at birth
Deviations (poly ane is a deviant)
Polyploidy
Aneuploidy
Aneuploidy is the phenomenon in which a cell can have one or a couple of chromosomes missing or present in surplus. On the other hand, polyploidy refers to the presence of extra complete sets of chromosomes
Polyploidy (poly is an incompatible exact copy)
Polyploidy – the deviations is an exact multiple of the haploid number of a set of chromosomes. 3 sets of chromosomes. ( incompatible with life)
Aneuploidy (ana is not exactly a trisomy)
the deviation is not an exact multiple of the haploid set. This is Monosomies and trisomy’s. Trisomy the most common.
chromosome abnormality - how common (666 is abnormal)
Incidence :
0.6 % in newborns
6% in stillbirths
60% in spontaneous abortions
trisomies most
common
chromosomal abnormality structure - translocation
exchange of chromosomal material, can occur in any chromosome.
Autosomal Dominant Inheritance
Only one copy of the variant (the bad one) allele is needed for phenotypic expression.
Heterozygous
you have a 50% chance of passing it on a variant.
Vertical Transmission
the transfer of genetic material is from parents to offspring
Autosomal Recessive Inheritance (you can’t see recessive)
2 carriers of variant, they don’t express it. 25% of offspring are affected, 25% are unaffected, and 50% are carriers.
punnet squares
will be on the test
x-linked inheritence (no X for males)
Mimics autosomal dominant except no male-to-male transmission. (male doesn’t pass on X to male)
multifactoral inheritance - ex.
when more than 1 factor causes a trait or health problem. ex - cleft palate and spinal bifida
Causes of Human Anomalies (the environment is infectious)
environment, maternal conditions (alcoholism - it actually changes your dna), infectious agents, mechanical problems
Genetic Evaluation and Counseling
Genetic counseling: The process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing it, and the options open to them in management and family planning in order to prevent, avoid, or ameliorate it
Variety of reasons an individual should be referred to genetic counseling (see Box 10.2)
Ideal time: before conception
Nursing Roles and Responsibilities - beginnings
Beginning the preconception counseling process and referring for further genetic information
Nursing Roles and Responsibilities - taking (taking the history)
taking a family history
Nursing Roles and Responsibilities - scheduling
schedule genetic testing
Nursing Roles and Responsibilities - explaining
Explaining the purposes, risks/benefits of all screening and diagnostic tests (see Laboratory and Diagnostic Tests 10.1)
Nursing Roles and Responsibilities - answering
Answering questions and addressing concerns
review slide
36
INFERTILITY - definition (don’t forget viability)
Failure to achieve a successful pregnancy after 12 months or more of appropriate, timed, unprotected intercourse or therapeutic donor insemination
OR
Inability to carry pregnancy to viability.
Increase of Infertility - Ovarian disfunction (the ovaries have weight and immune problems)
Advancing age (reduced oocyte quality)
Overweight/ underweight
Immune system disorders
Psychological stress
Increase of Infertility - this has to work for fertility
Normal functioning of an intact hypothalamic-pituitary-gonadal axis
Increase of Infertility - Tubal/Pelvic Pathology (tube ride)
STI’s (scar fallopian tubes)
Fibroids (scarring)
Cervical stenosis (sperm can’t get in)
Endometriosis (bleeding into abdomen)
copy slide
45
Initial Infertility Assessment - what labs?
Complete history and physical exam
Assessment of the reproductive track
Labs - check hormone levels, CBCs, thyroid
Detection of Ovulation - direct proof
Retrieval of an ovum from the uterine tube
Assessment of Cervical Mucus (mucus is spinning)
Low Viscosity
High Spinbarkeit
look at slide
51
hormone analysis - prolactin and thyroid
dx the cause of irregular or absent menstrual cycle
progesterone
to maintain pregnancy
FSH, estradiol
when assisted reproductive technology (ART), used to predict ovarian response to stimulants
Hysterosalpingogram - on what day? (the sapling is invasive)
used to assess infertility. very invasive, uses dye. Day 5 after start of Menstrual cycle.
Late follicular, early proliferative phase
semen analysis - 3 things (count correctly for motility)
sperm count, formed correctly, are they motile
Other Tests
Ultrasound for identification of physical abnormalities in the scrotum, spermatic cord, ejaculatory ducts, seminal vesicles and vas deferens
Genetic Testing
Medical disorders (hypopituitarism, metabolic disease)
Nutritional disorders
Post-Coital Test
Assesses the sperm’s ability to survive in the person’s mucous
Inability to Carry Pregnancy to Viability - what can cause it?
R/O STD/STIs and treat as necessary
Genetic work-up
Assess hormones
Physical assessment for chronic diseases, e.g., diabetes, SLE
Nursing Care - infertility
Nursing Diagnosis
Facilitate grieving process
Prepare for diagnostic procedures
Encourage communication
Patient/client education
Provide information
Dispel myths
Support groups
Assist with increasing fertility
copy slide
62
Prior to fertilization, the ovum and the spermatozoon undergo the process of
meiosis
When ovum and the spermatozoon come together to form the zygote, how many chromosomes?
this forms the zygote. the normal human diploid number of chromosomes (combination of two sets, i.e., 46) is established.
Stages of Fetal Development (just 3 - easy) (7,8)
Pre-embryonic stage, Embryonic stage, Fetal stage
Pre-embryonic stage: where does fertilization occur? and when is morula formed? (morula cleavage)
Fertilized egg know as the zygote (contains 23 chromosomes from female and 23 chromosomes from male), Fertilization takes place in the outer 3rd of the Fallopian tube, Cleavage (mitosis) occurs as zygote makes it way to the uterus, Morula formed after 4 cleavages (16 cells)
stages of fetal development (the morula blasts the trophy)
The Morula divides into specialized cells that will later become fetal structures, The inner layer of cells called the Blastocyst will form the embryo and then the amnion, The outer layer of cells, called the trophoblast will eventually form the placenta
Chorionic Villi develop from (cory is a trophy)
the Trophoblasts
The three embryonic layers of cells formed are: (embryo is eme)
ectoderm, mesoderm, endoderm
Ectoderm (ectoblast my nerves, skin, and glands)
Ectoderm—forms the central nervous system, special senses, skin, and glands.
Mesoderm (messy skeleton circulates pee and reproduces)
Mesoderm—forms the skeletal, urinary, circulatory, and reproductive organs.
Endoderm (endo = inside) (endo breathing for liver pancakes in my stomach)
Endoderm—forms the respiratory system, liver, pancreas, and digestive system.
Embryonic stage - what weeks? (embryo 28 weeks later)
Embryonic stage: end of second week through eighth week
Fetal stage - what weeks?
Fetal stage—end of the eighth week until birth
amniotic fluid and membrane functions - regulates what? and protects from what?
Protection against infection
Amniotic fluid index (indicator of well-being)
Regulates temperature
Protection against injury
Freedom of movement/symmetrical growth
Hormones Produced by the Placenta (the placenta is a SHHEPR)
hCG
Human placental lactogen (hPL) or human chorionic somatomammotropin (hCS) (breastfeeding)
Estrogen
Progesterone
Relaxin
PLACENTAL FUNCTIONING - FETAL WELL BEING
nutritional compromise, growth restriction, respiratory, death
Functions of the Placenta (placenta pie)
making, producing, removing, serving, protecting, inducing
serving (serving face)
Serving as the interface between the mother and fetus
making
Making hormones to control the physiology of the mother
protecting (protect me from my mother)
Protecting the fetus from immune attack by the mother
removing
Removing waste products from the fetus
inducing
Inducing the mother to bring more food to the placenta
producing
Producing hormones that mature into fetal organs
Umbilical Cord (the cord has veins, arteries, and jelly)
- Umbilical Vein
2. Wharton’s Jelly- Umbilical Arteries
how are chromosomes numbered? (the opposite)
Chromosomes are numbered from largest to smallest, 1 to 22, with sex chromosomes designated by X and Y
Inherited chromosomal abnormality ex. (the chromosomes are sickle)
e.g., sickle cell, cystic fibrosis, etc.
spontaneous chromosomal abnormality
occurs spontaneously at the time of conception
acquired chromosomal abnormality (I acquired it from the environment)
environmental
translocation - balanced (just rearrange the balance)
balanced - genes are rearranged.
translocation - unbalanced (the addition is unbalanced)
material is added or subtracted.
autosomal recessive inheritance - what must the parents be?
Both parents must be heterozygous carriers.
autosomal recessive inheritance - percentages
25% offspring may be affected, 50% is a carrier, 25% offspring is unaffected.
environmental etiology of abnormalities - environment
environment, maternal conditions (alcohol, diabetes, smoking, nutrition)
environmental etiology of anamolies - infectious agents
toxoplasmosis, rubella, syphilis, CMV, varicella
environmental etiology of anamolies - mechanical problems (the band is mechanical)
amniotic band constrictions (can restrict growth in legs, etc)
detection of ovulation - over the counter - tests for what hormone? (think, was releases the prisoner)
, Over the counter ovulation detection kits (tests for LH) – 24-36 hours prior to ovulation
detection of ovulation - progesterone? also…
Serum progesterone levels (elevated = ovulation), basil body temp, cervical mucous, ultrasound, imaging
fetal development - Pre-embryonic stage - what weeks? (premie at 2 weeks)
fertilization through second week
fetal development - Embryonic stage (embryo 28 weeks later)
end of the second week through the eighth week
fetal development - Fetal stage
end of the eighth week until birth
fetal development - implantation - and when does it happen?
Implantation- the trophoblast attaches itself to the endometrium (7-10 days after conception)
Blastocyst
Blastocyst will form the embryo and amnion
trophoblast (the only trophy is the placenta)
The outer layer of cells, will eventually form the placenta
embryonic stage (the embryo is the body)
Basic structures of major body organs and main external features
unbalanced translocation - what causes it? (on drugs and unbalanced)
exposure to certain drugs, viruses, and radiation, but cause isn’t always apparent.
autosomal recessive inheritance - what type of transmission? (the horizon recesses)
horizontal transmission
trisomy 21
21st chromosome has 3 chromosomes instead of 2. Downs.
abortion is
less than 20 weeks. stillbirth is over 20 weeks.
environmental anamolies - (the environment is hot)
chemicals, drugs, radiation, hyperthermia
infertility risk for men - what prescriptions?
prescriptions for psorasis and ulcers, cycling, cushings, mumps after puberty, hernia repair, drugs/alcohol
progesterone during ovulation
is elevated - can use a progesterone test to detect ovulation
basal body temp
drops during follicular phase, goes up during luteal phase. increases during ovulation
how to increase fertility - coitus how often?
no alcohol, no hot tubs, no douching, coitus at 36-48 hours, exercise
Pre-embryonic stage - when does it occur? (premie for 2 weeks)
fertilization through second week
trophoblast - when does it attach?
attaches to endometrium 7-10 days after conception
umbilical cord formed from (am I the umbilical)
the amnion
wharton’s jelly
Wharton’s jelly surrounds the vein and arteries to prevent compression
umbilical cord - size
At term, the average umbilical cord is 22-in long and about 1-in wide
hcg (progie loves hgtv)
stimulates the corpus luteum to produce progesterone to maintain the pregnancy
