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MOD > Congenital Anomalies (10) > Flashcards

Congenital Anomalies (10) Flashcards

1
Q

Most common cause of infant death in the united states?

A

Congenital anomalies

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2
Q

Neonatal period

A

0-4 weeks of life

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3
Q

Infancy

A

First year of life

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4
Q

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

A

1-4 years of age period

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5
Q

What are the 4 stages/time frames of development?

A

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

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6
Q

The chances of survival of infants increases with?

A

Each passing week

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7
Q

Disease

A

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

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8
Q

Disorder

A

Abnormality of function

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9
Q

Neoplasm

A

New or abnormal growth

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10
Q

Syndrome

A

Set of symptoms that occur together

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11
Q

What is a congenital anomaly?

A

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

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12
Q

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

A

Heart and Kidney defects

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13
Q

What are the 5 types of congenital anomalies?

A
  1. Malformation
  2. Disruption
  3. Deformation
  4. Sequence
  5. Malformation Syndrome
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14
Q

Malformation

A

Intrinsic error in the developmental process

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15
Q

Intrinsic error in the developmental process

A

Malformation

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16
Q

What usually causes Malformations?

A

Multifactorial

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17
Q

What is an example of a Malformation?

A

Polydactyly

Cleft lip

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18
Q

Disruption

A

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

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19
Q

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

A

Disruption

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20
Q

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

A

NO

- Not heritable

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21
Q

What is an example of a Disruption?

A

Amniotic bands that encircle or compress fetus

22
Q

Deformations

A

Localized or generalized compression of the fetus by abnormal biomechanical forces

23
Q

Localized or generalized compression of the fetus by abnormal biomechanical forces

A

Deformations

24
Q

What factors can all contribute to deformations?

A

Maternal
Fetal
Placental

25
Q

What is an example of a Deformation?

A

Uterine constraint

26
Q

Sequences

A

Cascade of anomalies triggered by 1 initial aberration

27
Q

Cascade of anomalies triggered by 1 initial aberration

A

Sequences

28
Q

What is an example of a sequence?

A

Oligohydramnios (potter) sequence

29
Q

What is the oligohydramnios sequence?

A
  • Oligohydramnios
  • Fetal compression
    = Pulmonary hypoplasia, altered facies, defects of hands and feet
30
Q

Malformation Syndrome

A

Constellation of anomalies that canNOT be explained by 1 initiating aberration

31
Q

Constellation of anomalies that canNOT be explained by 1 initiating aberration

A

Malformation Syndrome

32
Q

What usually causes a malformation syndrome?

A

Viral infection

33
Q

Agenesis

A

Complete absence of organ and primordium

34
Q

Aplasia

A

Absence of organ due to failure of growth from existing primordium

35
Q

Atresia

A

Absence of an opening to an organ

36
Q

Dysplasia

A

Abnormal organization of cells

37
Q

4 causes of congenital anomalies and %?

A
  1. UNKNOWN - 40-60%
  2. Multifactorial - 25%
  3. Genetic - 10%
  4. Environmental - 10%
38
Q

Genetic causes of congenital anomalies?

A
  1. Chromosomal aberrations

2. Mendelian Inheritance

39
Q

Environmental causes of congenital anomalies?

A

Maternal, placental infections
Maternal disease
Drugs and chemicals

40
Q

Teratogen

A

Can causes congenital malformation

41
Q

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

A

TIMING

42
Q

What are the 2 phases of Intrauterine Development?

A
  1. Early Embryonic Period - first 9 weeks

2. Fetal period - 9 weeks to birth

43
Q

When is the Early Embryonic Period?

A

0-9 weeks of pregnancy

44
Q

When is the Fetal Period?

A

9 weeks to birth of child

45
Q

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

A

Early Embryonic Period - 0-9 weeks gestation

46
Q

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

A

4-5 weeks gestation

47
Q

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

A 
CNS
Heart
Limbs
Eyes and ears
Genitalia
48
Q

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

A

Fetal Period - 9 weeks to birth

49
Q

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

A

Growth restrictions or injury

50
Q

What factors contribute to infant mortality in the US?

A

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

MOD (68 decks)

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