Mod 2 Flashcards
Errors resulting in Chromosomal abnormalities can occur in what?
mitosis-(somatic cell) Cell division in body cells other than the gametes.
meiosis-(sex cells) Reduction cell division in gametes that halves the number of chromosomes in each cell.
What is a karyotype?
karyotype-A picture of a cell’s chromosomes, arranged from largest to smallest pairs.
Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of newborns?
0.6%
Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of still births?
6%
Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of spontaneous abortions?
60%
explain autosomal abnormality
Abnormalities of chromosome number or structures of autosome chromosome (pair 1- 22) they result from unequal distribution of genetic material during the gamete formation (Down syndrome)
A cell with the correct or normal number of chromosomes within the cell is called?
euploid cell
what is a gamete?
Reproductive cell; in the female an ovum and in the male a spermatozoon.
what is monosomy?
it is the production of the union between a normal gamete and a gamete that is missing a chromosome
How many chromosome do monosomic individuals have?
45 chromosomes in each of their cells
How many chromosome do trisomic individuals have?
47 chromosomes in most or all of their cells
when does the vast majority of trisomies occur?
during oogenesis
what is oogenesis?
Formation of gametes (ova) in the female.
what is the most common trisomy abnormality?
Down syndrome
what is translocation?
Attachment of all or part of a chromosome to another chromosome.
what causes translocation?
exposure to certain drugs, viruses and radiation ( often for no reason)
What does GTPAL stand for?
- Gravita- number of pregnancies
- Term- term birth that’s are -carried past 37 weeks
- Preterm- preterm births delivered between 20 and 37 weeks
- Abortion/miscarriages- before 20 weeks SAB- spontaneous abortion EAB elected abortion
- Living-children at this time
How often will traditional prenatal care require?
Initial visit in the first trimester then monthly visit through week 28 after that ever 2 weeks until 36 weeks
What does amniotic fluid do?
Maintains environmental temperature
Helps muscular skeletal growth
Cushions the baby
Serves as oral fluid and repository for waste
Some one who has produced children with a genetic disease is what kind of estimated risk?
Reoccurrence risk
Someone who has not had child but is a known estimated risk for genetic diseases is what kind of risk?
Occurrence risk
What are signs of pregnancy?
- Presumptive- amenorrhea, breast changes, fatigue, N/V
- Probable- observed by an examiner, hegar’s sign, ballottement, pregnancy test
- Positive- FHT, sonogram, palpating fetal movement
Hemoglobin
Non pregnant 12-16
Pregnant >11
Hematocrit
Non pregnant 37-47
Pregnant > 33
WBC
Non pregnant 5,000- 10,000
Pregnant 5,000-15,000
Bladder capacity
Non pregnant 1300
Pregnant 1500
how much weight should a woman of normal wt gain during pregnancy?
25-35 lbs
how much weight should an under-weight woman gain during pregnancy?
20-40 lbs
how much weight should an obese woman gain during pregnancy?
15-25 lbs
why is an ultrasound used?
monitor fetal growth
check the amount of amniotic fluid
check the placenta location
what type of fetal monitoring is the most reliable indicator of fetal death?
BPP
What is a risk of MSAFP?
preterm labor
How is MSAFP done?
by amniocentesis
What is MSAFP used to detect?
High levels which are associated with neural tube defects like Spinal Bifida
Low levels are associated with Down syndrome or other trisomy’s
When is PUBS done?
second or third trimester because the cord is usually stationary
what side of the placenta is smooth?
fetal (amniotic) surface
what side of the placenta has cotyledon and groves?
maternal (uterine surface)
when is the maternal-placenta-embryonic circulation in place?
by the 17th day, when the embryonic heart starts beating
what is the early function of the placenta?
to produce hormones
- protein hormone- (hCG)
- protein hormone- hCS and hPL
- steroid hormone- progesterone
- steroid hormone- estrogen
primary lung and urethral buds appear at what week of gestation?
6 weeks
the vagina is open or the testes are in position for descent into the scrotum at what week gestation?
16 weeks
when does vernix caseosa and lanugo appear during gestation?
20 weeks
At what gestation does subcutaneous fat begins to collect?
30 to 31 weeks
What is a key finding from the Human Genome Project?
approximately 20,000 to 25,000 genes make up the genome
The presence of surface-active phospholipids in the amniotic fluid is an indication of what?
lung maturity
