Congenital Anomalies (10)

Question 1

Most common cause of infant death in the united states?

Answer 1

Congenital anomalies

Question 2

Neonatal period

Answer 2

0-4 weeks of life

Question 3

Infancy

Answer 3

First year of life

Question 4

When do malignant neoplasms begin to be a significant cause of death?

Answer 4

1-4 years of age period

Question 5

What are the 4 stages/time frames of development?

Answer 5

Neonatal = 0-4 weeks of life
Infancy = First year of life
1-4 years of age
5-14 years of age

Question 6

The chances of survival of infants increases with?

Answer 6

Each passing week

Question 7

Disease

Answer 7

Any deviation from normal structure or function manifested by characteristic symptoms and signs

Question 8

Disorder

Answer 8

Abnormality of function

Question 9

Neoplasm

Answer 9

New or abnormal growth

Question 10

Syndrome

Answer 10

Set of symptoms that occur together

Question 11

What is a congenital anomaly?

Answer 11

Anatomic defect present at birth, even if it does not manifest itself until later in life

Question 12

What are examples of congenital anomalies that may not manifest until later in life?

Answer 12

Heart and Kidney defects

Question 13

What are the 5 types of congenital anomalies?

Answer 13

1. Malformation
2. Disruption
3. Deformation
4. Sequence
5. Malformation Syndrome

Question 14

Malformation

Answer 14

Intrinsic error in the developmental process

Question 15

Intrinsic error in the developmental process

Answer 15

Malformation

Question 16

What usually causes Malformations?

Answer 16

Multifactorial

Question 17

What is an example of a Malformation?

Answer 17

Polydactyly

Cleft lip

Question 18

Disruption

Answer 18

Destruction of an organ or body region that was normal in development previously

Question 19

Destruction of an organ or body region that was normal in development previously

Answer 19

Disruption

Question 20

With Disruptions, is there an increased risk of recurrence for it to happen again with the next pregnancy?

Answer 20

NO

- Not heritable

Question 21

What is an example of a Disruption?

Answer 21

Amniotic bands that encircle or compress fetus

Question 22

Deformations

Answer 22

Localized or generalized compression of the fetus by abnormal biomechanical forces

Question 23

Localized or generalized compression of the fetus by abnormal biomechanical forces

Answer 23

Deformations

Question 24

What factors can all contribute to deformations?

Answer 24

Maternal
Fetal
Placental

Question 25

What is an example of a Deformation?

Answer 25

Uterine constraint

Question 26

Sequences

Answer 26

Cascade of anomalies triggered by 1 initial aberration

Question 27

Cascade of anomalies triggered by 1 initial aberration

Answer 27

Sequences

Question 28

What is an example of a sequence?

Answer 28

Oligohydramnios (potter) sequence

Question 29

What is the oligohydramnios sequence?

Answer 29

- Oligohydramnios - Fetal compression = Pulmonary hypoplasia, altered facies, defects of hands and feet

Question 30

Malformation Syndrome

Answer 30

Constellation of anomalies that canNOT be explained by 1 initiating aberration

Question 31

Constellation of anomalies that canNOT be explained by 1 initiating aberration

Answer 31

Malformation Syndrome

Question 32

What usually causes a malformation syndrome?

Answer 32

Viral infection

Question 33

Agenesis

Answer 33

Complete absence of organ and primordium

Question 34

Aplasia

Answer 34

Absence of organ due to failure of growth from existing primordium

Question 35

Atresia

Answer 35

Absence of an opening to an organ

Question 36

Dysplasia

Answer 36

Abnormal organization of cells

Question 37

4 causes of congenital anomalies and %?

Answer 37

1. UNKNOWN - 40-60% 2. Multifactorial - 25% 3. Genetic - 10% 4. Environmental - 10%

Question 38

Genetic causes of congenital anomalies?

Answer 38

1. Chromosomal aberrations | 2. Mendelian Inheritance

Question 39

Environmental causes of congenital anomalies?

Answer 39

Maternal, placental infections Maternal disease Drugs and chemicals

Question 40

Teratogen

Answer 40

Can causes congenital malformation

Question 41

The ____ of the prenatal teratogenic insult has important impact on the occurrence and type of congenital anomaly

Answer 41

TIMING

Question 42

What are the 2 phases of Intrauterine Development?

Answer 42

1. Early Embryonic Period - first 9 weeks | 2. Fetal period - 9 weeks to birth

Question 43

When is the Early Embryonic Period?

Answer 43

0-9 weeks of pregnancy

Question 44

When is the Fetal Period?

Answer 44

9 weeks to birth of child

Question 45

In what Intrauterine phase of development is the fetus EXTREMELY susceptible to teratogenesis (formation of anomalies)?

Answer 45

Early Embryonic Period - 0-9 weeks gestation

Question 46

At what point in the Early Embryonic Period is the fetus at the highest point of susceptibility to anomaly formation?

Answer 46

4-5 weeks gestation

Question 47

During the Early Embryonic Period, what systems of the body are very susceptible to teratogenesis?

Answer 47

``` CNS Heart Limbs Eyes and ears Genitalia ```

Question 48

In what Intrauterine phase of development is the fetus not really susceptible to teratogenesis?

Answer 48

Fetal Period - 9 weeks to birth

Question 49

In the Fetal Period of intrauterine development, what is the fetus now more susceptible to?

Answer 49

Growth restrictions or injury

Question 50

What factors contribute to infant mortality in the US?

Answer 50

Maternal age (<20 and >40), socioeconomic status, and increased risk for African Americans