Exam 2 Flashcards
Stages of Embryonic Development
Pre-Embryonic
Embryonic
Fetal
Pre-Embryonic Stage (duration; key developments)
Duration: Conception - Week 3
Key Developments Zygote implants on uterine wall with 3 layers Endoderm Mesoderm Ectoderm
What does the endoderm of the zygote develop into
Respiratory system
Digestive system
Liver
Pancreas
What does the mesoderm of the zygote develop into
Skeleton Connective tissue Cartilage Muscles Circulatory system Lymph system Reproductive system Urinary system
What does the ectoderm of the zygote develop into
Brain
spinal cord
Nervous system
Outer body parts (hair, skin, nails)
Embryonic stage (duration, key developments)
Duration: Weeks 4-8
Developments
Rapid developments –> all basic organs are established by the end of this stage
** Most vulnerable period to any factor that may cause congenital anomalies ** (i.e. alcohol, tobacco)
Fetal stage (duration, key developments for each trimester)
Duration: Week 9-Birth
By 12 weeks gestation (end of T1)
- Some reflexes* present
- Fetal heartbeat can be heard by Doppler (between 10-12 weeks)
- Sex* is distinguishable by appearance
- Kidney* secretions begin
By 24 weeks gestation (end of T2)
- fetal heart tones*
- Lung surfactant* produced (but alveoli not yet formed)
- Liver & pancreas* functioning
- Sleep-wake patterns* established
- Eyelids open*
- Hair forms*
By 40 weeks gestation (end of T3/pregnancy)
- Lung alveoli are formed and considered mature
- testes descend
- subcutaneous fat is deposited
Steps of conception
- ovum (egg) released from ovary and travels down fallopian tube
- sperm meets the ovum at the outer most portion of the fallopian tube = fertilization
- when sperm penetrates ovum, pregancy begins and ovum becomes a zygote
Placenta (what is it, when it forms, functions)
The placenta is the interface/pass-through between the mom and fetus
Begins forming at end of 2nd week
Functions
- supplies nutrients and oxygen
- removes waste products from the fetus to be excreted by the mom
- protects baby from mom’s immune attacks
- produces hormones that mature into fetal organs
Placental hormones & functions
- hCG
- “pregnancy” hormone; the hormone tested for in urine pregnancy tests
- functions: produces progesterone to maintain the uterine lining rather than shedding it
- 2 tests: quantitative (results with amount of hCG to dtmn gestation) and qualitative (yes or no pregnant)
- hPL
- Manages mom and fetus metabolism
- Develops breasts for lactation
- Lowers mom’s insulin sensitivity to increase the number of nutrients available for the fetus
- Estrogen
- Develops breasts, uterus and external genitalia
- Stimulates myometrial contractions during labor
- Progesterone
- Maintains endometrial lining
- Decreases uterine contractility
- Stimulates mom’s metabolism and breast development
- Provides early fetal nourishment during conception phase
- Relaxin
- Maintains the pregnancy
- Softens the cervix before birth
Umbilical cord (development, formed from, functions, contents, size)
Develops with placenta ~end of 2nd week
Formed from amnion (innermost layer of embryo enclosure)
Function: lifeline between mom and embryo
Contents (AVA)
- 1 large vein
- 2 large arteries
- Wharton’s jelly within to prevent compression of blood vessels
Average size
- Length: 22-in
- Width: 1-in
Amniotic fluid (composition, functions)
Fluid surrounding baby in the uterus
Composition = mom’s blood + baby’s urine
- amount of amniotic fluid increases as pregnancy progresses
- ~1L at full term
Functions
- Helps maintain body temp for fetus
- Permits symmetric growth & development
- Cushions the fetus
- Prevents umbilical cord compression
- Promotes fetal movement to enhances musculoskeletal development
Fetal circulation (purpose) and fetal shunts
Fetal lungs are not fully developed so shunting the oxygenated blood from mom away from the lungs and directly to the systemic circulation helps to provide adequate oxygenation in utero
Ductus venosus
- Connects umbilical vein to fetus’ inferior vena cava
Ductus arteriosus
- Connects the fetus’ main pulmonary artery to the aorta
Foramen ovale
- An anatomic opening between the fetus’ right and left atrium
Human genome project (goal)
an international effort to map, sequence and determine the function of all human genes to allow for early detection of anomalies
Genome determines what?
Genome = a person’s genetic blueprint
Determines genotype and phenotype
Genotype
Genes inherited from parents
Phenotype
the observed outward characteristics of the genotype and its interactions with the environment
Genes (definition, makeup, function)
Genes = individual units of heredity of all traits
Made of long segments of DNA that occupy specific locations on a chromosome
Function to determine a particular characteristic of an organism
Karyotype
a pictorial analysis of the number, form and size of chromosomes
22 pairs of autosomes with 1 pair of sex chromosomes
Chromosomes are numbered from largest to smallest (1-22) with sex chromosomes designated by X and Y
XX = female, XY = male
Types of Mendelian/Monogenic Disorders
Autosomal dominant Autosomal recessive X-linked inheritance -- X-linked recessive -- X-linked dominant
Define the following Allele Phenotype Homozygous Heterozygous
Allele - any variations that exist for a gene
Phenotype - the outward characteristics of a gene
Homozygous - inherited genes from mom and dad are the same allele
Heterozygous - different alleles are inherited from parents and the dominant allele is the phenotype
Autosomal dominant disorders (define, chances of impacted offspring, common disorders)
A single gene in a heterozygous state produces the phenotype
If a normal mom and affected dad produce offspring…
- 50% chance unaffected offspring
- 50% chance of heterozygous offspring with disordered phenotype
Common disorders
- Huntington’s
- Polycystic Kidney Disease
Autosomal recessive disorders (define, chances of impacted offspring, common disorders)
2 copies of affected genes in a homozygous state are needed to cause the disorder
Both parents must be heterozygous carriers to produce affected children
If both parents are heterozygous carriers…
- 25% chance of a homozygous “normal” child
- 50% chance of heterozygous carriers
- 25% chance of heterozygous affected genotype –> disordered phenotype
Common disorders
- Cystic Fibrosis
- Phenylketonuria
- Tay-Sachs
- Sickle cell disease
X-Linked Recessive Disorders (define, chances of impacted offspring, common disorders)
Disorders are associated with an abnormal gene on the X chromosome
- Since males have only 1 X chromosome, they are more likely to be affected
– males do not pass along their X
chromosomes, these always come
from mom
- Since females have 2 X chromosomes, they can have hetero- or homozygous chromosomes –> similar to autosomal recessive inheritance
If mom is a carrier and dad has a normal X chromosome…
- 25% chance of normal male
- 25% chance of normal female
- 25% chance of carrier female
- 25% chance of affected male
Common disorders
- Hemophilia
- Color blindness
- DMD