Module 1 Unit 2 - Genetic and Congenital Disorders

Question 1

How is CF inherited

Answer 1

Autosomal Recessive

Question 2

How is Huntington’s Disease Inherited

Answer 2

Autosomal Dominant - # of CAG repeats increases severity and decreases life expectancy.

Question 3

How is hemophilia inherited?

Answer 3

X-linked Recessive

Question 4

How does cleft palate develop?

Answer 4

Multifactorial inheritance

Question 5

When is a fetus most vulnerable to teratogens?

Answer 5

Days 15-60 after conception (most of first trimester which goes to week 12)

Question 6

3 ways teratogens can cause birth defects

Answer 6

1. Direct exposure of pregnant female or fetus.
2. Exposure of soon to be pregnant female to agent with slow clearance rate.
3. Environmental agent causing mutagenic effects to reproductive cells permanently before conception.

Question 7

Teratogen: Alcohol

Answer 7

Mircocephaly, heart defects

Question 8

Teratogen: Cocaine

Answer 8

Vascular Disruption

Question 9

Teratogen: Valproate

Answer 9

Mandibular and ear anomalies

Question 10

Teratogen: Vitamin A - Retinol

Answer 10

Spina Bifida
Spontaneous Abortion
Cardiovascular defects

Question 11

Teratogenic infection: Rubella

Answer 11

Microcephaly, Heart Defect

Question 12

Teratogenic infection: Toxoplasmosis

Answer 12

Hydrocephalus

Question 13

Teratogenic infection: Varicella

Answer 13

Limb Defects

Question 14

Diabetes potential birth defects.

Answer 14

Heart Defects, Neural Tube Defects.

Question 15

Phenylketonuria potential birth defects.

Answer 15

Microcephaly, Heart Defects

Question 16

Characteristic features of Fetal Alcohol Syndrome

Answer 16

Small Palpebral Fissures (eye openings)
Thin Vermilion border (upper lip)
Elongated and flattened midface and philtrum (groove in the upper lip)

Question 17

Cocaine use in pregnancy

Answer 17

Fetal Vasoconstriction
Stimulation of uterine contractions
Maternal Hypertension
Decreased uteroplacental blood flow

Question 18

Folic Acid deficiency

Answer 18

Spina Bifida, Anencephaly, Encephalocele

Question 19

TORCH is an acronym for infections most commonly associated with fetal anomalies. What does it stand for?

Answer 19

Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpes

Question 20

Elevated AFP

Answer 20

Neural tube defects

Question 21

Significantly elevated hCG

Answer 21

Downs syndrome

Question 22

Significantly elevated PAPP-A

Answer 22

Down’s Syndrome