Mod 2 Flashcards

1
Q

Errors resulting in Chromosomal abnormalities can occur in what?

A

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.

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2
Q

What is a karyotype?

A

karyotype-A picture of a cell’s chromosomes, arranged from largest to smallest pairs.

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3
Q

Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of newborns?

A

0.6%

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4
Q

Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of still births?

A

6%

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5
Q

Chromosomal abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders in what % of spontaneous abortions?

A

60%

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6
Q

explain autosomal abnormality

A

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)

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7
Q

A cell with the correct or normal number of chromosomes within the cell is called?

A

euploid cell

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8
Q

what is a gamete?

A

Reproductive cell; in the female an ovum and in the male a spermatozoon.

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9
Q

what is monosomy?

A

it is the production of the union between a normal gamete and a gamete that is missing a chromosome

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10
Q

How many chromosome do monosomic individuals have?

A

45 chromosomes in each of their cells

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11
Q

How many chromosome do trisomic individuals have?

A

47 chromosomes in most or all of their cells

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12
Q

when does the vast majority of trisomies occur?

A

during oogenesis

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13
Q

what is oogenesis?

A

Formation of gametes (ova) in the female.

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14
Q

what is the most common trisomy abnormality?

A

Down syndrome

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15
Q

what is translocation?

A

Attachment of all or part of a chromosome to another chromosome.

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16
Q

what causes translocation?

A

exposure to certain drugs, viruses and radiation ( often for no reason)

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17
Q

What does GTPAL stand for?

A
  • 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
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18
Q

How often will traditional prenatal care require?

A

Initial visit in the first trimester then monthly visit through week 28 after that ever 2 weeks until 36 weeks

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19
Q

What does amniotic fluid do?

A

Maintains environmental temperature
Helps muscular skeletal growth
Cushions the baby
Serves as oral fluid and repository for waste

20
Q

Some one who has produced children with a genetic disease is what kind of estimated risk?

A

Reoccurrence risk

21
Q

Someone who has not had child but is a known estimated risk for genetic diseases is what kind of risk?

A

Occurrence risk

22
Q

What are signs of pregnancy?

A
  1. Presumptive- amenorrhea, breast changes, fatigue, N/V
  2. Probable- observed by an examiner, hegar’s sign, ballottement, pregnancy test
  3. Positive- FHT, sonogram, palpating fetal movement
23
Q

Hemoglobin

A

Non pregnant 12-16

Pregnant >11

24
Q

Hematocrit

A

Non pregnant 37-47

Pregnant > 33

25
Q

WBC

A

Non pregnant 5,000- 10,000

Pregnant 5,000-15,000

26
Q

Bladder capacity

A

Non pregnant 1300

Pregnant 1500

27
Q

how much weight should a woman of normal wt gain during pregnancy?

A

25-35 lbs

28
Q

how much weight should an under-weight woman gain during pregnancy?

A

20-40 lbs

29
Q

how much weight should an obese woman gain during pregnancy?

A

15-25 lbs

30
Q

why is an ultrasound used?

A

monitor fetal growth
check the amount of amniotic fluid
check the placenta location

31
Q

what type of fetal monitoring is the most reliable indicator of fetal death?

A

BPP

32
Q

What is a risk of MSAFP?

A

preterm labor

33
Q

How is MSAFP done?

A

by amniocentesis

34
Q

What is MSAFP used to detect?

A

High levels which are associated with neural tube defects like Spinal Bifida
Low levels are associated with Down syndrome or other trisomy’s

35
Q

When is PUBS done?

A

second or third trimester because the cord is usually stationary

36
Q

what side of the placenta is smooth?

A

fetal (amniotic) surface

37
Q

what side of the placenta has cotyledon and groves?

A

maternal (uterine surface)

38
Q

when is the maternal-placenta-embryonic circulation in place?

A

by the 17th day, when the embryonic heart starts beating

39
Q

what is the early function of the placenta?

A

to produce hormones

  • protein hormone- (hCG)
  • protein hormone- hCS and hPL
  • steroid hormone- progesterone
  • steroid hormone- estrogen
40
Q

primary lung and urethral buds appear at what week of gestation?

A

6 weeks

41
Q

the vagina is open or the testes are in position for descent into the scrotum at what week gestation?

A

16 weeks

42
Q

when does vernix caseosa and lanugo appear during gestation?

A

20 weeks

43
Q

At what gestation does subcutaneous fat begins to collect?

A

30 to 31 weeks

44
Q

What is a key finding from the Human Genome Project?

A

approximately 20,000 to 25,000 genes make up the genome

45
Q

The presence of surface-active phospholipids in the amniotic fluid is an indication of what?

A

lung maturity