Ch. 8 & 9 Quiz Flashcards

1
Q

What is the difference between genetics and genomics?

A

Genetics is the study of single genes and what effect they have. Genomics is a study of the function and interaction of all genes in a genome.

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2
Q

What percentage of miscarriage are estimated to chromosomal in origin?

A

62%

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3
Q

What is Tay-Sachs disease and what ethnic groups are more prone to it?

A

Overgrowth of fats. Jews, certain Canadians/Cajuns, Amish

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4
Q

What is Talassemia and what ethnic groups are more prone to it?

A

Blood hemoglobin disorder. Mediterranean, Middle Eastern, Central Asian

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5
Q

What type of disease is PKU and what ethnic groups are more prone to it?

A

Metabolic - can’t break down phenylalanine. Irish/Scottish, Scandinavian, Iceland, Polish

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6
Q

What type of disease is Cystic Fibrosis and what ethnic groups are more prone to it?

A

Chronic lung, thick mucous. Whites, Jews, Hispanics

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7
Q

What is the relevance of genetics to nursing?

A

Facilitates referral for specialized services.

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8
Q

Name 2 prenatal genetic tests.

A

CVS and aminocentesis.

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9
Q

Name 2 types of maternal genetic screenings.

A

AFP and triple marker.

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10
Q

What cancers can be screened for?

A

Breast & ovarian (Brca1-Brca2), Huntingtons & Alzeimers

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11
Q

What is the difference between recessive and dominant genes?

A

For a dominant trait to be expressed, it only takes 1 gene (remember we have 2 of each). For recessive trait to appear, both genes must support that trait.

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12
Q

What is the difference between genotype and phenotype?

A

Genotype is the genetic makeup of an organism, phenotype is the outward manifestations of the organisms genetics. (i.e., what it looks like)

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13
Q

What is a Karyotype?

A

It is a picture of a genetic profile.

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14
Q

What birth defects does folic acid prevent?

A

Neural tube defects.

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15
Q

What does congenital mean?

A

Present at birth.

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16
Q

What are teratogens?

A

Any agent that can impede or halt the development of an embryo or fetus. Drugs, chemicals, infections, radiation, diabetes and PKU in the mother.

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17
Q

What does homologous mean in regard to genetics?

A

It refers to chromosome pairs.

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18
Q

What is an autosome?

A

Non-sex chromosomes.

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19
Q

What are Loci?

A

Loci is plural for locus and is the specific location of a gene or DNA sequence on a chromosome.

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20
Q

What are alleles?

A

A single gene of the pair that forms a trait.

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21
Q

What is meant by homozygous? Heterozygous?

A

Having identical alleles for a single trait. Having different alleles for a single trait.

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22
Q

What abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders? Name 2.

A

Chromosome abnormalities. Turners syndrome (monosamy x) and Klingenfelters syndrome (Trisomy xxy).

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23
Q

What is chromosome translocation and what causes it? What syndrome?

A

Exchange of material between chromosomes. Caused by drugs/viruses/radiation. Cri du chat.

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24
Q

Name some uni-factorial defects.

A

Marfran’s, Treacher Collins, Dwarfism.

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25
Q

What is the difference between autosomal dominant and autosomal recessive?

A

In an autosomal dominant, it only takes 1 defective gene to produce the defect, in recessive it takes 2.

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26
Q

Which type of defect inheritance is more severe in males?

A

X-linked dominant inheritance. X-linked means it is on the X chromosome. Females transmit to offspring 50% of the time.

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27
Q

What is a multifactorial method of transmission? Give examples.

A

Most common. Combination of genetic and environmental factors. Cleft lip/palate, neural tube defects, heart, pyloric stenosis.

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28
Q

When does implantation of an egg usually occur?

A

6 days after fertilization.

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29
Q

What are the time frames for pre-embryonic, embryonic, and fetal stages?

A

Through 15th day, day 15-8 weeks (40 days), 9th week until birth.

30
Q

Which fetal stage is most critical?

A

Embryonic.

31
Q

Which germ layer forms the yolk sac of a 3 week old embryo?

A

Endoderm.

32
Q

What attaches the embryo to the uterus?

A

Chorionic villi.

33
Q

On average, how long is a pregnancy?

A

10 lunar or 9 calendar months. 40 weeks.

34
Q

How many veins & arteries are in the umbilical cord?

A

1 vein and 2 arteries.

35
Q

When is the placenta complete?

A

By 12 weeks.

36
Q

What does the placenta do?

A

Provides metabolic exchange between the mother and fetus.

37
Q

What is detected in maternal serum 8-10 days after fertilization? What does it do?

A

hCG. Preserves the corpus luteum which ensures supply of estrogen and progesterone to maintain the pregnancy until placenta can take over.

38
Q

What do progesterone and estrogen do during pregnacy?

A

Progesterone maintains the endometrium. Estrogen stimulates uterine growth.

39
Q

What position should be avoided when pregnant? Why?

A

Supine position. Can impede blood flow to the uterus (uterine perfusion), and lead to IUGR (intrauterine growth restriction) or SGA (small for gestational age).

40
Q

An L/S ratio of _____ at _____ weeks shows fetal lung maturity.

A

2:1. 35 weeks. Lecithin starts at 21 weeks and increases after 24 weeks. Sphingomyelin is constant.

41
Q

What is considered a normal fetal HR range?

A

120-160 bpm.

42
Q

How does fetal hemoglobin levels concentration compare to mom’s? It’s oxygen carrying capacity?

A

50% higher. 20%-30% higher.

43
Q

When is the hematopoietic system formed?

A

6 weeks.

44
Q

When does the fetus start swallowing amniotic fluid?

A

20 weeks.

45
Q

When is the GI system mature?

A

36 weeks.

46
Q

When do the kidneys form? Function?

A

5 weeks. 9 weeks.

47
Q

What forms a major part of the amniotic fluid volume?

A

Urine.

48
Q

When can the baby hear sound?

A

24 weeks.

49
Q

When are the eyes formed?

A

28 weeks.

50
Q

When do muscles begin to contract?

A

7 weeks.

51
Q

What is lanugo?

A

Fine protective hair that appears at about 5 months and usually falls off before birth.

52
Q

What ethnic group has the largest incidence of dizygotic twins? Smallest?

A

African Americans. Asians.

53
Q

Do you know the difference between monozygotic twins and dizygotic twins?

A

Mono - 1 egg splits. Di - 2 eggs are fertilized.

54
Q

How long is gestation?

A

280 days after LMP or 266 days after conception.

55
Q

When a zygote divides into 16 divisions it is called a _____?

A

Morula.

56
Q

How long after ovulation does fertilization occur? Where?

A

24 hours. Fallopian tube.

57
Q

How many births in the US are considered high risk?

A

1 in 8.

58
Q

For the mother, high risk status arbitrarily extends through _____ (30 days after childbirth).

A

Puerperium. Complications usually resolve within 1 month of birth.

59
Q

What is PPROM?

A

Preterm, premature rupture of membrane.

60
Q

What is oligohydraminos? Polyhydraminos?

A

Lack of amniotic fluid. Too much amniotic fluid.

61
Q

What are the 3 leading causes of Maternal mortality in the US?

A

Pregnancy induced hypertension, pulmonary embolism, hemorrhage.

62
Q

What age factors are related to maternal deaths?

A

< 20 or > 35.

63
Q

What other factors relate to elevated maternal deaths?

A

Lack of prenatal care, low education, unmarried, nonwhite (African Americans 3x higher).

64
Q

What is the healthy birth goal?

A

< 3.3 deaths per 1,000,000 live births.

65
Q

What is the AFP test used for?

A

Alpha Fetal Protein is used to detect neural tube, and other fetal defects.

66
Q

What is BPP?

A

Biophysical profile. Test to determine if baby needs to be delivered ASAP. 2 points each for amniotic fluid volume, fetal movement, breathing, muscle tone, reactive NST. Score

67
Q

What is amniocentesis used to detect?

A

Genetic disorders, lung maturity, hemolytic disease.

68
Q

What is PUBS?

A

Percutaneous umbilical blood sampling. (Under ultrasound) Done 1-2cm from placental insertion point. 1-4mL of blood removed.

69
Q

What is tested because it reflects the genetic makeup of the fetus?

A

Chorionic villi. Go in through vagina.

70
Q

What test identifies Downs Syndrome 60% of the time?

A

Triple marker test.