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OB 2 > Patterns of Fetal Anomalies > Flashcards

Patterns of Fetal Anomalies Flashcards

1
Q

A pattern of multiple anomalies related to a single causative factor or pathology

A

Syndrome

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2
Q

T or F? Trisomy is considered an association

A

False: It is considered a syndrome because trisomy’s have multiple anomalies associated with that one syndrome

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3
Q

A pattern of multiple anomalies not related to a single causative factor or pathology

A

Association

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4
Q

Is a 2V cord known as an association or sequence?

A

Association

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5
Q

A pattern of multiple anomalies that results from an initial single anomaly

A

Sequence

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6
Q

Is pulmonary hypoplasia considered an association or sequence?

A

Sequence

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7
Q

What is it called when the tissue in an anomaly is abnormal from the start?

A

Malformation

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8
Q

What is it called when tissue is acted upon by an outside force resulting in an abnormal shape or position?

A

Deformation

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9
Q

An anomaly where the structure breaks down due to some form of insult

A

Disruption

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10
Q

When structure of tissue lacks its normal cell organization?

A

Dysplasia

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11
Q

Are germ cells haploid or diploid?

A

Haploid

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12
Q

How many autosomes and sex cells are in a haploid cell?

A

22 autosomes and 1 sex chromosome

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13
Q

Are somatic cells haploid or diploid?

A

Diploid

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14
Q

How many autosomes and sex cells are in a diploid/somatic cell?

A

(23 pairs of chromosomes) 22 pairs of autosomes and 2 sex chromosomes

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15
Q

What type of cell goes through mitosis?

A

Somatic

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16
Q

How many daughter cells occur due to mitosis?

A

2

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17
Q

What type of cell goes through meiosis?

A

Germ / haploid

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18
Q

How many daughter cells occur due to meiosis?

A

4

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19
Q

What is the term used for changes in number of chromosomes present?

A

Heteroploidy

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20
Q

What is the term for integral multiples of the haploid number of chromosomes and all cells are affected equally?

A

Euploidy

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21
Q

Is tripoloidy an example of heteroploidy, aneuploidy, or euploidy?

A

Euploidy

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22
Q

What is the term for either having one less or one extra chromosome?

A

Aneuploidy

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23
Q

Is trisomy an example of heteroploidy, euploidy, or aneuploidy?

A

Aneuploidy

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24
Q

T or F? Multifactorial inheritance is due to both genetic and non-genetic conditions?

A

TRUE

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25
Q

What are the risk factors for chromosomal abnormalities?

A
  1. Increased maternal age
  2. Previous pregnancy with chromosomal abnormalities
  3. Previous early pregnancy loss
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26
Q

What is responsible for decongigating estriol?

A

Placenta

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27
Q

What organs synthesize estriol?

A

Adrenal gland and liver

28
Q

What levels are elevated and decreased in Trisomy 21 in second trimester?

A

Elevated = hCG and Inhibin A

Decreased = MSAFP and uE3

29
Q

What is the classic sonographic feature of BWS?

A

Macroglossia
Macrosomia
Hemi-hyperplasia

30
Q

In what abnormality can facial nevus flammeus be seen?

A

BWS

31
Q

Meckel-gruber’s classic findings include?

A
  1. Echogenic kidneys due to polycystic disease
  2. Limb anomalies - polydactyly
  3. Encephalocele
32
Q

What syndrome is also known as Monosomy X?

A

Turner Syndrome

33
Q

What is the chromosomal makeup of turner syndrome?

A

45 (XO)

34
Q

T or F? Turner syndrome mostly affects males

A

False: Only affects females and due to missing chromosome from paternal contribution

35
Q

What is the classic sonographic finding of Turner syndrome?

A

Cystic hygroma

36
Q

Malformations associated with potter sequence traces its cause to what?

A

Oliogohydramnios

37
Q

What is the term for abnormal facial features in potter sequences?

A

Potter facies

38
Q

What is diandry?

A

When two sperms fertilize one egg

39
Q

What is digyny?

A

An extra chromosome set from the mother

40
Q

What SF is seen in the first trimester with Triploidy?

A

NT thickening

41
Q

In triploidy, when an extra chromosome is given by the father, what two things occur (partial hydatidiform mole) ?

A

Large placenta
symmetric IUGR

42
Q

In triploidy, when the extra chromosomes come from the mother, what two things occur?

A

Small placenta
Asymmetric IUGR

43
Q

What are the most common sonographic findings in triploidy?

A
  1. Ventriculomegaly
  2. Syndactyly of the third and fourth digit
44
Q

What is mosaic trisomy 13?

A

When he or she has the extra chromosome in some but not all of their cells

45
Q

T or F? Most trisomy babies survive until birth

A

True

46
Q

Common findings in Patau syndrome?

A
  1. Holoprosencephaly
  2. Facial defects
  3. Clubfeet
  4. Omphalocele
47
Q

Survivors of Trisomy 13 may suffer from?

A
  1. Hypotonia or hypertonia
  2. Seizures
48
Q

What is the second most common trisomy?

A

Trisomy 18 and more common in females

49
Q

Screening values seen in Trisomy 18

A

Low triple screen values: hCG, MSAFP, and uE3

50
Q

Every organ system may have identifiable sonographic features in what abnormality?

A

Trisomy 18

51
Q

What abnormality is related to “strawberry skull”?

A

Trisomy 18

52
Q

T or F? NT thickening is greater in Trisomy 18 than 21

A

True

53
Q

Sonographic features of Trisomy 18

A
  1. Strawberry skull
  2. Increased NT
  3. Clenched hands
  4. ASD and VSD
54
Q

Abnormal hand posturing, growth restriction, and polyhydraminos is indicative of what abnormality and in what trimester are these seen?

A

Trisomy 18 - 3rd trimester

55
Q

T or F? Maternal disjunction accounts for most cases of trisomy 21

A

FALSE: maternal NONdisjunction accounts for most cases

56
Q

First trimester features seen in Trisomy 21?

A
  1. Increased NT
  2. Reversed ductus venosus flow
  3. TR
  4. Absent or hypoplastic nasal bone
57
Q

T or F? VACTERL association is thought to be “X” linked

A

TRUE

58
Q

Multiple defects in VACTERL association are usually due to what factors? (hint: environmental)

A

Environmental:
1. progesterone-estrogen
2. BCP
3. Lead exposure
4. Maternal diabetes

59
Q

Oligohydramnios is used interchangeably with what abnormality?

A

Potter sequence

60
Q

In the first trimester, what levels are increased or decreased in Triploidy?

A

Elevated = hCG, NT, MSAFP

Low = PAPP-A

61
Q

In second trimester, what levels are increased or decreased in Triploidy?

A

Low hCG, uE3, and AFP

62
Q

In the first trimester, what values are elevated or decreased in Trisomy 21?

A

Elevated = NT, hCG

Decreased = PAPP-A

63
Q

In what syndrome does second trimester triple screen not provide benefit but quadruple screen does?

A

Trisomy 13 (Patau)

64
Q

What values are increased or decreased in Trisomy 18?

A

Triple screen values are all LOW
-hCG
-uE3
-MSAFP

65
Q

In Trisomy 21, the median life span is 49 years. Mortality is most often associated with what?

A

Cardiac defects

OB 2 (20 decks)

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