Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

PSIO 469 Exam 03 > Lecture 19: Birth Defects > Flashcards

Lecture 19: Birth Defects Flashcards

1
Q

What is a “birth defect?”

A

abnormality or structure, function or metabolism present at birth that results in physical or mental disabilities or death

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is a “congenital” effect?

A

a physical anomaly which is recognizable at birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are some single gene defects?

5

A
  • Tay-Sachs
  • Achondroplasia
  • Cystic Fibrosis
  • Hemophilia
  • Duchenne Muscular Dystrophy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are chromosomal defects?

A

too many or two few chromosomes (aneuploidy), or with one or more chromosomes that are broken or rearranged

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are some examples of chromosomal defects?

A
  • Trisomy 21 (down syndrome)
  • Trisomy 18 or 13
  • Missing or extra chromosomes (e.g., Turner syndrome)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are some environmental factors of birth defects?

A
  • Teratogens
  • Alcohol
  • Drugs/ Medication
  • Infetions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How much folic acid should a pregnant woman take?

A

between 400 micrograms to 4mg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

When does Neural Tube Formation takes place?

A

15-28 days of development, from fertilization

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What happens during “Anencephaly?”

A
  • Upper part of neural tube does not close all the way

- Baby is born without parts of brain and skull

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What happens during “Spina Bifida?”

A
  • It can happen anywhere along spine where lower part of neural tube does not close all the way
  • Causes physical and mental disabilities that range from mild to severe
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Folic acid is necessary for DNA____, DNA_____ and DNA_____ and it acts as a co-factor in ______reactions

A

synthesis, repair, methylation

biological

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Folic acid is important for rapid ____ and _____

A

division; growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How can birth defects be diagnosed BEFORE birth?

4

A
  • Blood tests
  • Ultrasound
  • Chorionic Villus Sampling
  • Amniocentesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What does Cell-free fetal DNA accomplish?

A
  • most reliable for sex determination

- Use to diagnose Trisomy 21 and 18 and single gene defects of parental origin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the 2 types of blood tests done in First-Trimester ultra-screen?

A
  • Pregnancy-associated Plasma Protein A (PAPP-A)

Human Chorionic Gonadotropin (hCG)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the type of blood tests done in Second trimester? Quad Screen?

A
  • Alpha-Fetoprotein (AFP)

- hCG, Estriol and possibly inhibin

17
Q

What does the 1st Trimester US accomplish?

6

A
  • Dates of pregnancy
  • detects HB
  • Detects Fetal movement
  • Determines the # of fetuses and identify placental structures
  • Diagnose ectopic or miscarriage
  • Nuchal Translucency Screen
18
Q

What does the 2nd Trimester US accomplish?

8

A
  • Examine fetal anatomy for presence of abnormalities
  • Check amount of amniotic fluid
  • Examine blood flow patterns
  • Observe fetal behavior and activity
  • Examine Placenta
  • Measure length of cervix
  • Monitor fetal growth
  • Discover sex of fetus around 14 weeks
19
Q

What does the 3rd Trimester US accomplish?

4

A
  • Monitor Fetal Growth
  • Check amount of amniotic fluid
  • Determine position of fetus
  • Assess placenta
20
Q

What does Chorionic Villus Sampling (CVS) do? What does it not do?

A
  • Takes sample of placental tissue under ultrasound, and tests for chromosomal abnormalities and other genetic defects.
  • Does not provide information on neural tube defects
21
Q

What does an Amniocentesis discover? what does it show?

A
  • Amniotic fluid contains cells shed by the fetus and AFP

- Provides neural tube defects, chromosomal abnormalities and other genetic defects

22
Q

What are some arguments in favor of parental screening?

5

A
  • Pursue potential interventions that may exist
  • Being planning for a child with special needs
  • Start addressing anticipated lifestyle changes
  • Identify support groups and resources
  • Make decisions about carrying child to term
23
Q

What are some arguments against parental screening?

3

A
  • parents should accept of results regardless of outcome
  • Making decisions about carrying child to term is not an option due to personal, moral or religious reasons
  • Testing may pose risk of harming developing baby
24
Q

What is Phenylketonuria (PKU)?

A
  • Babies cannot process phenylalanine

- can build up in blood stream causing brain damage and mental retardation

PSIO 469 Exam 03 (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions