Ch. 8 & 9 Quiz

Question 1

What is the difference between genetics and genomics?

Answer 1

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.

Question 2

What percentage of miscarriage are estimated to chromosomal in origin?

Answer 2

62%

Question 3

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

Answer 3

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

Question 4

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

Answer 4

Blood hemoglobin disorder. Mediterranean, Middle Eastern, Central Asian

Question 5

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

Answer 5

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

Question 6

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

Answer 6

Chronic lung, thick mucous. Whites, Jews, Hispanics

Question 7

What is the relevance of genetics to nursing?

Answer 7

Facilitates referral for specialized services.

Question 8

Name 2 prenatal genetic tests.

Answer 8

CVS and aminocentesis.

Question 9

Name 2 types of maternal genetic screenings.

Answer 9

AFP and triple marker.

Question 10

What cancers can be screened for?

Answer 10

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

Question 11

What is the difference between recessive and dominant genes?

Answer 11

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.

Question 12

What is the difference between genotype and phenotype?

Answer 12

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

Question 13

What is a Karyotype?

Answer 13

It is a picture of a genetic profile.

Question 14

What birth defects does folic acid prevent?

Answer 14

Neural tube defects.

Question 15

What does congenital mean?

Answer 15

Present at birth.

Question 16

What are teratogens?

Answer 16

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

Question 17

What does homologous mean in regard to genetics?

Answer 17

It refers to chromosome pairs.

Question 18

What is an autosome?

Answer 18

Non-sex chromosomes.

Question 19

What are Loci?

Answer 19

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

Question 20

What are alleles?

Answer 20

A single gene of the pair that forms a trait.

Question 21

What is meant by homozygous? Heterozygous?

Answer 21

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

Question 22

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

Answer 22

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

Question 23

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

Answer 23

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

Question 24

Name some uni-factorial defects.

Answer 24

Marfran’s, Treacher Collins, Dwarfism.

Question 25

What is the difference between autosomal dominant and autosomal recessive?

Answer 25

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

Question 26

Which type of defect inheritance is more severe in males?

Answer 26

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

Question 27

What is a multifactorial method of transmission? Give examples.

Answer 27

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

Question 28

When does implantation of an egg usually occur?

Answer 28

6 days after fertilization.

Question 29

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

Answer 29

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

Question 30

Which fetal stage is most critical?

Answer 30

Embryonic.

Question 31

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

Answer 31

Endoderm.

Question 32

What attaches the embryo to the uterus?

Answer 32

Chorionic villi.

Question 33

On average, how long is a pregnancy?

Answer 33

10 lunar or 9 calendar months. 40 weeks.

Question 34

How many veins & arteries are in the umbilical cord?

Answer 34

1 vein and 2 arteries.

Question 35

When is the placenta complete?

Answer 35

By 12 weeks.

Question 36

What does the placenta do?

Answer 36

Provides metabolic exchange between the mother and fetus.

Question 37

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

Answer 37

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

Question 38

What do progesterone and estrogen do during pregnacy?

Answer 38

Progesterone maintains the endometrium. Estrogen stimulates uterine growth.

Question 39

What position should be avoided when pregnant? Why?

Answer 39

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

Question 40

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

Answer 40

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

Question 41

What is considered a normal fetal HR range?

Answer 41

120-160 bpm.

Question 42

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

Answer 42

50% higher. 20%-30% higher.

Question 43

When is the hematopoietic system formed?

Answer 43

6 weeks.

Question 44

When does the fetus start swallowing amniotic fluid?

Answer 44

20 weeks.

Question 45

When is the GI system mature?

Answer 45

36 weeks.

Question 46

When do the kidneys form? Function?

Answer 46

5 weeks. 9 weeks.

Question 47

What forms a major part of the amniotic fluid volume?

Answer 47

Urine.

Question 48

When can the baby hear sound?

Answer 48

24 weeks.

Question 49

When are the eyes formed?

Answer 49

28 weeks.

Question 50

When do muscles begin to contract?

Answer 50

7 weeks.

Question 51

What is lanugo?

Answer 51

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

Question 52

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

Answer 52

African Americans. Asians.

Question 53

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

Answer 53

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

Question 54

How long is gestation?

Answer 54

280 days after LMP or 266 days after conception.

Question 55

When a zygote divides into 16 divisions it is called a \_\_\_\_\_?

Answer 55

Morula.

Question 56

How long after ovulation does fertilization occur? Where?

Answer 56

24 hours. Fallopian tube.

Question 57

How many births in the US are considered high risk?

Answer 57

1 in 8.

Question 58

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

Answer 58

Puerperium. Complications usually resolve within 1 month of birth.

Question 59

What is PPROM?

Answer 59

Preterm, premature rupture of membrane.

Question 60

What is oligohydraminos? Polyhydraminos?

Answer 60

Lack of amniotic fluid. Too much amniotic fluid.

Question 61

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

Answer 61

Pregnancy induced hypertension, pulmonary embolism, hemorrhage.

Question 62

What age factors are related to maternal deaths?

Answer 62

\< 20 or \> 35.

Question 63

What other factors relate to elevated maternal deaths?

Answer 63

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

Question 64

What is the healthy birth goal?

Answer 64

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

Question 65

What is the AFP test used for?

Answer 65

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

Question 66

What is BPP?

Answer 66

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

Question 67

What is amniocentesis used to detect?

Answer 67

Genetic disorders, lung maturity, hemolytic disease.

Question 68

What is PUBS?

Answer 68

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

Question 69

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

Answer 69

Chorionic villi. Go in through vagina.

Question 70

What test identifies Downs Syndrome 60% of the time?

Answer 70

Triple marker test.