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DNA molecules
contain genetic code; make up genes
genes
segments of DNA that encode specific traits/characteristics
alleles
different versions of genes
46 chromosomes
collections of genes
zygote
new cell formed by process of conception
multiple births
rare in humans
identical twins
single fertilized egg splits into 2 individuals
fraternal twins
2 eggs fertilized by 2 sperm cells
sex chromosomes
determine sex of developing individual
the sex chromosomes are called either X or Y
androgens
cause male genitals to develop
gonads
testes in males and ovaries in females
dominant trait
“wins” against recessive trait
recessive trait
must inherit copies from both parents to be expressed
x-linked genes
located only on x chromosome / means males are more susceptible to x-linked disorders; no other x chromosome
hemophilia
blood disorder produced by X-linked genes
homozygous
same info from both parents
heterozygous
different info from both parents
genotype
inherited genes
phenotype
expression of genes
polygenic Inheritance
skin and eye color
Multi-factorial Inheritance
2 kids – same genetic heritance for height.
Poor nutrition, sickness = shorter
Well-fed, healthy = taller
reaction range
range of possibilities set up bygenes; environment determines final outcome
autosomal disorders
are caused by genes located on the autosomes / most recessive disorders are diagnosed in infancy or early childhood.
phenylketonuria (PKU) (autosomal disorders)
may lead to developmental disorders as toxins build up in baby’s brain
huntington’s disease (autosomal disorders)
brain deterioration – psychological and motor functions
tay-sachs disease (autosomal disorders)
fatty proteins cause problems w/vision, hearing,movement, mental dev (no treatment, infantile form always fatal)
sickle-cell anemia (autosomal disorders)
red blood cells are sticky and stiff; can block blood flow
sex-linked disorders
genes that cause sex-linked disorders are found on the X and Y chromosomes.
fragile - x syndrome
“fragile” or damaged spot on X chromosome
chromosomal errors
a variety of problems can be caused when a child has too many or too few chromosomes
trisomies
condition in which a child has three copies of a specific autosome
trisomy 21 / down syndrome
3 chromosomes at the 21st pair
sex-chromosome anomalies
klinefelter syndrome - males w/extra X chromosome - XXY
turner syndrome - need hormones at puberty to develop breasts,menstruate
XYY - boys with an extra Y chromosome (XYY) are taller than average and have large teeth.
Genetic Counseling
helping people cope w/issues caused byinherited disorders
Ultrasound sonography
high-frequency sound waves used to produce image of embryo
Can detect large abnormalities
Chorionic villus sampling
samples of hairlike materialsurrounding embryo; can be through cervix or abdominal wall
Amniocentesis
needle that gathers small sample of fetalcells
Slight risks associated with 2 and 3
fertilization
sperm and ovum unite in fallopian tubes
Risky journey back to uterus – 50-60% don’t make it.
ectopic pregancy
fertilized egg implants in fallopian tubes. Must be removed
stages of prenatal development - 1. germinal stage
first two weeks of gestation, from conception to implantation, constitute the germinal stage
Blastocyst
hollow sphere of cells w/2 layers
implantation
buried in uterine wall
placenta
allows oxygen, nutrients, etc., to passb/w baby and mother
umbilical cord
connects individual to placenta
yolk sac
produces blood cells until individual’scells take over
amnion
fluid-filled sac that contains individual
stages of prenatal development - 2. embryonic stage
begins when implantation is complete, at about the end of the second week of pregnancy
ectoderm
outer layer; skin, nervoussystem
endoderm
inner layer; viscera
mesoderm
middle layer; muscle and bone
neural tube
will give rise to the brain and spinal cord
stages of prenatal development - 3. embryonic stage
Final stage
neural proliferation
increase in paceof neural dev
infertility
inability to conceive after 12-18 months of trying
causes of infertility…
age of parents
previous use of birth control, drugs, cigs, STIS
low sperm count
failure to release egg during ovulation - hormonal imbalance, damage, stress
anatomical issues
artificial insemination
sperm placed in vagina by doctor ($1,000/attempt)
in vitro fertilization
eggs are removed and combined w/sperm in lab ($12,000 - $20,000/attempt)
teratogens (prenatal env)
(greek - monster making) environmental agent that produces or increases risk of birth defects
mothers diet
maternal malnutrition puts both the mother’s and the fetus’s health at risk
mother’s age
too young or too old increases risks / strain on body; increased issues getting pregnant w/age; increased risks of birth defects w/age
illnesses
rubella/german disease (blindness, deafness, heart defects, and brain abnormalities) or HIV(virus may cross the placenta and enter the fetus’s bloodstream, or the infant may contract the virus in the birth canal)
prescription and over the counter drugs
just because a medication is prescribed or available over the counter does NOT mean it is safe to take while pregnant
consult your doctor about ALL medications
illegal drugs
marijuana - risk of learning disabilities if Mom smoked heavily
heroin
tobacco
alcohol
FASD
small size overall, smaller brains, heart defects, facial abnormalities, dev delays (most common non-inherited form of dev delays in US)
FAE
some, tho not all problems associated w/mother drinking smaller amounts of alcohol during pregnancy
father’s affect the prenatal environment
secondhand smoke can affect mother’s health
alcohol and illegal drugs can lead to chromosomal damage at conception
stress may produce an unhealthy environment for mother
sperm damage may result from exposure to environmental toxins in workplace
labor (stage 1) - dilation
opening of the cervix
labor (stage 1) - effacement
thinning/flattening of the cervix
active phase
egins when the cervix is three to four centimeters dilated and continues until dilation reaches about eight centimeters
transition
last 2 cm of cervical dilation. most painful. (mom may vomit and shake uncontrollably - upsetting, but expected)
stage 2 - episiotomy
incision in pernineum to increase opening of vagina
stage 3 afterbirth
umbilical cord and placenta are expelled
lamaze birthing techniques
learn how to deal positively w/pain and to relax at onset of a contraction
bradley method
“husband-coached childbirth“ (childbirth should be as natural as possible and involves NO medication or medical interventions)
hypnobirthing
involves a self-hypnosis during delivery produces peace and calm and reduces pain
water birthing
giving birth in pool of water / weightlessness is thought to reduce discomfort
birth attendants (obstetricians)
MDs w/special training in labor delivery
certified nurse - midwives - registered nurses
special birth training
certified midwives
special training, but not nurses
doulas
emotional support; no medical training
drugs during delivery (epidural aneshesia)
numb below waist
walking epidural
smaller needle; continuous delivery of medication; more movement
preterm infants (birth complications)
born less than 38 weeks gestation; risk of illness, death
low birth weight infants (birth complications)
less than 5.5 pounds; usually early
small-for-gestational age infants (birth complications)
weight 90%or less of average of infants of same gestational age
respiratory distress syndromes (birth complications)
lack surfactant that keeps air sacs fully inflated
very-low-birthweight infants (birth complications)
weight less than 2.23 lbs, or have gestated less than 30 weeks
age of viability (birth complications)
can live outside womb; earliest is about 22 weeks (less than 50/50 chance at 25 weeks)
causes of preterm and low birthweight
about ½ - unknown, multiple births, young mothers (under 15), too closely spaced births, general health and nutrition of mom
postmature infants
not born 2 weeks after due date
postmature infants problems
fetus is too big, birth complications placenta starts to fail, may inhale feces,
cesarean delivery
surgical birth
why to have a c-section
breech or transverse presentation, fetal distress, labor fails to progress
stillbirth
delivery of infant who has died
infant mortality
death of infant in first year of life
impact
may experience prolonged grief / loss often minimized by others / don’t say things like ‘“You can have another baby“