HD Exam 2 Flashcards
Endoderm
yellow and the lining of internal organs
Mesoderm
red = bones, muscles
Ectoderm
blue = the nervous system and skin
Neurulation
process of folding the neural tube
neural tube
becomes the CNS
neural crest
becomes the PNS
somites
vertebrae
Neural tube deficits
Spina Bifida
Anencephaly
Encephalocele
folic acid
Spina Bifida
deficit in neural tube closure at the caudal end (lower){bump on spine}
5% prevalence
Leg weakness and paralysis
Orthopedic abnormalities
Bladder and bowel control problems
executive functionAnencephaly:
deficit in neural tube closure at the rostral end (close to brain){no fully developed head}
blind, deaf, unable to feel pain
brainstem but little if no cerebrum
hours to days of life
Encephalocele:
opening on rostral end {bump/opening of the skull}
craniofacial abnormalities or other brain malformations
folic acid
Should be taken before the mother plans to conceive a child
Increase folic acid can help reduce some birth defects like a cleft palate
Folic acid is found in foods such as spinach
Hindbrain
The hindbrain develops into:
- Cerebellum = balance
- Pons = sleep and respiration, relay information
- Medulla = autonomic function: breathing, heart rate and blood pressure
-Together they support vital bodily processes
Midbrain
The midbrain develops into basic relay control of movement and sensory systems:
- Colliculi = vision, hearing
- Ventral tegmental area (VTA) & Substantia nigra = motor control
Forebrain
The forebrain develops into:
- Cerebrum
- Thalamus and hypothalamus
- Limbic system
-Two cerebral hemispheres – perception, awareness, cognition
Cerebral cortex = cortical (4 lobes)
“Higher” cognitive function
Sensory info
PFC!!
-White matter
Corpus callosum
Limbic system
memory, motivation and emotion
- Hippocampus
- Amygdala
Hypothalamus & Thalamus
sensory relay and homeostasis
Striatum
motor and reward systems
Optic vesicles
retina, optic nerves
Neural migration = Radial migration
Neural migration = Radial migration
Radial migration = migration of “baby” neurons move along radial glia from the ventricle zone outwards.
Green is “baby” neurons = neural precursors
Neural precursors migrating across radial glia
First trimester
1- 12 weeks; period of dividing zygote , implantation and bilaminiar embryo (not sucseptible to teratogens) heart, eyes , ears ,limbs , teeth ,palate external genetalia form
Faint brain waves and brain grows half the size of the body
Second trimester
13-27 weeks
Rapid development of the fissures and convolutions on the cerebral hemisphere (complex thinking)
Third trimester
28-41 weeks
Aneuploidy vs. Inherited disorders
Aneuploidy: missing or extra chromosomes
-Trisomy, monosomy
Inherited disorders: caused by gene mutation
- Sickle cell disease, cystic fibrosis, tay-sachs disease
- Both parents are carriers of the gene
Prenatal screening
chances that the fetus has aneuploidy or select inherited disorders
Carrier screening
carrier for an inherent disorder
Prenatal genetic screening = blood tests and ultrasound exams
Prenatal diagnosis tests
can better determine if the fetus actually has the disorder
Amniocentesis
amniotic fluid/cells
Chorionic villus sampling (CVS)
placenta cells
First Screening (10-13 weeks)
Ultrasound screening
Fetal viability, number of fetuses
Placental position, gestational dating
Nuchal translucency screening (looking for thickness of the space behind the neck)
more space behind the neck=down syndrome
-Down syndrome (Trisomy 21; T21), Trisomy 18 (T18)
-Linked to physical defects in heart, abdominal wall, skeleton
Maternal Serum Screening
Double Test” (blood test)
HCG (human chorionic gonadotropin)
too high or too low indicates abnormal changes
Pregnancy hormone
PAPPA (Pregnancy-associated plasma protein A)
(blood test)
Low levels = T21, placenta issues (fetal death, low birth weight, preeclampsia)
Viability
23 weeks vs. 25 weeks
Almost half had severe or moderate disabilities
A point in fetal development at which the fetus may survive outside the womb
Infant can be born at 23 wks and survive with A LOT of medical attention
Survival rates: 23 weeks: 15%
Survival rates: 25 weeks: 80%
Second Screening (15-22 weeks)
Ultrasound screening non-invasive
Physical defects: spine, facial features, abdomen, heart, limbs
Neural tube deficits: Hydrocephalus, anencephaly
Maternal Serum Screening = “Quad Test”
down syndrome, trisomy 18, neural tube deficits
alpha-fetoprotein (AFP)
human chorionic gonadotropin (hCG)
estriol (UE3)
dimeric inhibin A (DIA) Optional!
Physical defects: spine, facial features, abdomen, heart, limbs
Neural tube deficits: Hydrocephalus, anencephaly
AFP (alpha-fetoprotein)
Tested for in maternal serum screening quad test blood test in second trimester
hCG (human chorionic gonadotropin)
Pregnancy hormone tested for in the maternal serum screening
Double blood test in first trimester
Down Syndrome (T21)
81% accuracy without ultrasound
High levels of HCG/inhibitin A
Low levels of AFP/UE3
Trisomy 18
Low levels of HCG/inhibitin A/AFP/UE3
Neural tube defects
High levels of AFP
multiple gestation, or underestimation of gestational age
Vaginal delivery:
Less lung problems in infant -Fluid in lungs, pulmonary hypertension Less likely: -Asthma, food allergies, lactose issues -Postpartum pain Breastfeed quicker, more effective Bonding Anxiety, emotions KNOWN COMPLICATIONS Complications to mom & baby -Physical trauma (tears, bleeding, etc.) Medical complications -High blood pressure, Pre-eclampsia -Gestational diabetes -placenta previa or placental abruption Induction -Prostaglandin, Oxytocin -Rupture membrane ”water breaking”
Cesarean Surgery
C-section Control & Convenience Lower risk of Hemorrhage & injury Major surgery -Complications, anesthesia, blood loss Mother risk: -Heart attacks, blood clots, infection -Hysterectomy, numbness, pain -Later placental problems Baby risk of Lung infections/issues Bonding & breastfeeding
Three Stages of Labor
a. Stage 1 (early labor vs. active labor)
Hours to days
Contractions every 5 min.
Cervix dilates to about 10 cm
b. Stage 2 (birthing/pushing)
Min to hours
Contractions & pushing moves the baby farther down the vagina
Painful contractions, most positive part of labor
Baby is born
c. Stage 3 (placenta)
<20 min
Placenta separates from the uterine wall & is expelled
Estrogen & progesterone levels drop
Apgar Score
0-10
{how good the baby is doing}
Appearance
Pulse
Grimace
Activity
RespirationPostpartum Blues (baby blues){realization of having a baby}
Up to 80% of women
short-lasting change in mood
usually occurs during first 2 weeks after childbirth
experienced by about half of new mothers
symptoms include: crying, sadness, insomnia, irritability, anxiety, and lack of confidence
“baby pinks” – manic episode Ex: Mother would clean the whole house and make dinner up to 3 weeks.
Postpartum depression (15%)
Intense/serious disorder -extreme sadness, exhaustion, sleep disturbances, despair, lack of interest in enjoyable activities, loss of interest in the baby, feelings of guilt develop within 6 months postpartum Lasts months Hormonal changes Social factors -Stress -economic status, fewer resources -social support
Aneuploidy:
a. Nullisomy
b. Monosomy:
c. Trisomy:
change in chromosome number
loss/addition during mitosis/meiosis
a. Loss of homologous chromosomes
21 autosomes
loss of a single chromosome from a pair
One allele copy
addition of a single chromosome to a pair
Three chromosomes
Tay-Sachs Disease (HEX A, damage to nervous system, symptoms)
Tay-Sachs Disease (HEX A, damage to nervous system, symptoms)
single mutation on chromosome 15
HEX A
- breaks down lipids
- Toxic buildup of fat in the brain
Damage to nervous system
-Destruction of nerve cells in the brain and spinal cord
Symptoms
- Loss of motor abilities
- Deaf, blind
- Death at 4-8 years
- Hydrocephalus & lesion
Sickle cell anemia
hemoglobin, symptoms, ethnicity, malaria
SNP on chromosome 11
Affects Hemoglobin (red blood cells) -Crescent-shaped, rigid, fragile
Symptoms (6 months)
- Anemia
- Jaundice
- Abdominal/joint pain = red blood cell obstruction
- Renal/heart failure
Ethnicity
- African-Americans
- Western/central Africa
Malaria
-Heterozygous carriers
Cystic Fibrosis
CFTR gene, symptoms, ethnicity
Mutation on Chromosome 7
CFTR gene
-production of sweat, digestive fluids, and mucus
Symptoms
- No cure
- lung/pancreas dysfunction
- Stressful
- Interferes with other types of development
Ethnicity
- 1 out of 3200 births (Caucasian)
- 1 out of 15,000 (African-American)
Fragile X Syndrome
phenotype, males, autism
Phenotype
-Single codon repeat on X
Males
- 1 out of 2000 males
- More severe in males
Autism
-1/3 similar to autism
(social interactions and delayed speech)
Cat’s Cry Syndrome
phenotype
Phenotype:
-Poor eye control, asymmetrical faces, short stature
Prader-Willi Syndrome
distinct phenotypical phases, treatment
-Prenatal-2 years: slow growth:poor muscle tone, small hands, and small feet
-2-5 years: physical weakness
Treatment
-(no cure) growth hormones, parent/education counseling, diet/nutrition, academic/social programs,cognitive behavioral therapy
Taste, smell
Evident in newborns
Well-developed by 1 year of age
Vision
Develops with brain
3-4 months = brightness, focus, primary colors
9 months = see small objects
1 year = track objects
Gross/fine motor control
Gross/fine motor control -> emerges by year 2
- Crawling, walking, grasping, etc…
- Coordination of movements, explore environment
Years 2-6 -> play years
- Basic motor, perceptual, social, emotional skills
- Enhance strength
Synaptic plasticity
ability of synapses to strengthen or weaken over time, in response to increases or decreases in their activity
Language
Newborns
Head orientation to mother’s voice
Vocalizations
12-18 months
true words
imitations
Teratogens
interrupt normal physiological development
-Chemicals, metals, radiation, viruses, bacteria, drugs, maternal stresses
main endpoints of teratogenic action
Death of embryo/fetus
Birth defects/malformations
Fetal growth deficiency, premature births
Postnatal functional issues
-Cognitive, social, behavioral, emotional
Target access
direct and indirect routes
Direct = through maternal tissue
Indirect = through maternal blood
