Congentital and Childhood Disorders

Question 1

What trimester is the most critical for development?

Answer 1

First trimester

Question 2

What occurs in the first trimester?

Answer 2

• Cell differentiation

- Brain, spinal cord, organ development, arms legs, eyes, and genital development

Question 3

What controls embryonic development?

Answer 3

DNA

Question 4

What occurs in the 2nd trimester?

Answer 4

• Rapid growth
• Differentiation
• Maturation of body tissues and organs

Question 5

What occurs in the third trimester?

Answer 5

• Nervous system begins regulating the body tissues and organs
• Respiratory system matures
• Sexual development is completed

Question 6

Excessive mutation can cause…

Answer 6

Spontaneous Abortion

Question 7

When and what are the important nutrients needed for development and when are they essential

Answer 7

• Folic acid

- Essential during the first trimester

Question 8

If you lack folic acid, what are its effects?

Answer 8

Effects the neural tube and can lead to spina bifida

Question 9

This is any agent capable of causing a congential fetal abnormaility

Answer 9

Teratogen

Question 10

What are the common tetatogens?

Answer 10

• Alcohol (MOST COMMON)
• Drugs
• Viral infections
• Toxins

Question 11

This is any abnormality present at birth

Answer 11

Congential Defect

Question 12

When do most birth defects occur and why?

Answer 12

Occur in the embryonic period (the first 8 weeks) because this is when the fetus is most vulnerable

Question 13

What are common causes of birth defcts?

Answer 13

• Mechanical factors
• Genetic Factors
• Environmental factors
• Multifactorial

Question 14

This is caused by maternal mechanical factors that distort the fetus

Answer 14

Congential Deformations

Question 15

These are fetal defects due to genetic factors that interfere with the process of cell division

Answer 15

Congential malformations

Question 16

What is an example of mechanical defect

Answer 16

Club Foot

Question 17

Describe club foot

Answer 17

• Twisting inward or outward of the foot so that the sole is not on the ground
• Due to malformation of the uterus
• Multiple pregnancies
• Decreased amniotic fluid

Question 18

What is the most common chemical/drug that effects the fetus? and how does it work?

Answer 18

Alcohol

• Alcohol is water soluble so it crosses the placenta and causes a negative effect
• Results in fetal alcohol syndrome

Question 19

What are the effects of fetal alcohol syndrome?

Answer 19

• Thin upper lip
• Wide set eyes
• Intrauterine growth restriction
• Short eye syndrome
• Mental deficiency

Question 20

What are the classes of drugs for pregnant women, what are their significance, and what is an example?

Answer 20

Classes of drugs= A, B, C, X

• Classes are descriptive for whether they are safe for pregnant women
• C drugs= mostly haven’t been tested yet
• Coumadin= teratogenic

Question 21

Again, what is folic acid and B12 important for?

Answer 21

Development of the nueral tube (incases the spinal cord)

Question 22

What are the 3 types of Spina bifida?

Answer 22

• Spina bifida occulta
• Spina bifida with meningocele
• Spina bifida with myelomeningocele

Question 23

Describe spina bifida occulta?

Answer 23

• Mild
• Small Non closure of vertebral arch
• S&S= dimple, tuft of hair, hyperpigmentation in the lower lumbar region

Question 24

Describe spina bifida with meningocele

Answer 24

• The meninges and CSF protrude through the deficit
• Large deficit
• Causes a cystic nature

Question 25

Describe spina bifida with myelomeningocele

Answer 25

- When the spinal cord, meninges, and CSF protrude through the deficit - Huge deficit in the vertebral arch - Causes extreme harm - Can lead to paraylzation - Can become incontinent because the nerves that go to the bladder don't work

Question 26

What is vitamin A used for in development

Answer 26

Formation of... - Heart - Limbs - Eyes - Ears

Question 27

How does ionizing radiation cause birth defects?

Answer 27

Effects the germ cells of the mother (ova) or the developing fetus and result in damaging DNA -Damaged germ cells=defective baby

Question 28

What is the name of the group that is the most common cause of microbe related teratogens

Answer 28

``` TORCH teratogens T=Toxoplasmosis O=Other (syphilis, hep B, AIDS) R=rubella C=cytomegalovirus H=Herpes ```

Question 29

What are S&S of TORCH syndrome?

Answer 29

``` -Small skull Mental retardation -Cataracts -Heart problems -Liver problems (hemorrhages and jaundice) ```

Question 30

How can TORCH problems be transferred?

Answer 30

- Transplacentally | - When the uterus exits the vagina during birth

Question 31

What does a nucleotide contain? | -

Answer 31

- Sugar - Phosphate - Base

Question 32

This is the sequence of nucleotide bases that code for DNA

Answer 32

-Genetic code

Question 33

T/F- The majority of DNA is noncoding

Answer 33

True

Question 34

T/F- Most genetic disorders are multifactorial?

Answer 34

True

Question 35

How many chromosomes do humans have?

Answer 35

46 - 22 autosomes - 1 pairs of sex chromosomes

Question 36

This is a set of chromosomes

Answer 36

Karyotype

Question 37

This is your genetic makeup

Answer 37

Genotype

Question 38

This is your physical appearance

Answer 38

Phenotype

Question 39

What are the 3 categories of genetic problems?

Answer 39

- Monogenic - Polygenic - Cytogenic

Question 40

Describe monogenic (genetic problems)

Answer 40

-Passed down from parent to child -Either autosomal ressessive/dominant Ex. Sickle Cell disease

Question 41

Describe polygenic (genetic problems)

Answer 41

-Multi gene influence as they interact with environmental factors (like obesity) Ex. Type 2 diabetes, CAD, physical traits

Question 42

Describe cytogenic (genetic problems)

Answer 42

-Large scale abnormalities of chromosomes caused by extra or absent WHOLE chromosomes or structural dislocations -Most are not inheritable!!!!!! -Most are this type -Arise downstream, so they DO NOT EXIST IN THE ORIGINAL GERM CELL Ex. Downs Syndrome

Question 43

T/F- DNA mutation that occurs in the ova or the sperm are the only genetic mutations that can be transmitted to the offspring

Answer 43

TRUE

Question 44

If the defective gene always expressed

Answer 44

Not necessarily

Question 45

How many defective genes do you need for an autosomal recessive disease?

Answer 45

2 | -if you only have 1 gene, you are a carrier

Question 46

How many defective genes do you need for an autosomal dominant disease?

Answer 46

1