ABGC > Prenatal > Flashcards

Prenatal Flashcards

(39 cards)

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1
Q

What is associated with high hCG?

A
  • Turner syndrome
  • triploidy
  • T21
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2
Q

What is associated with large NT?

A
  • trisomy
  • skeletal dysplasias
  • Turner syndrome
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3
Q

What is associated with low ue3?

A
  • trisomy

- X-linked ichthyosis

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4
Q

What birth defects is retinoic acid associated with?

A
  • NTDs

- facial

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5
Q

What is the recurrence risk for NTDs after one child?

A

2-3%

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6
Q

What is associated with chiari malformation?

A
  • achondroplasia

- spina bifida

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7
Q

What genetic disorders is cystic hygroma associated with?

A
  • chromosome abnormalities
  • trisomy
  • Turner syndrome
  • Noonan syndrome
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8
Q

What non-genetic factors is cystic hygroma associated with?

A
  • virus

- alcohol

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9
Q

What ultrasound markers are associated most highly with T21?

A
  • duodenal atresia
  • ventriculomegaly
  • intracardiac echogenic focus
  • clinodactyly
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10
Q

What is associated with CPC?

A

T18

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11
Q

What is associated with holoprosencephaly?

A
  • T13
  • triploidy
  • Pallister-Hall
  • Rubinstein-Taybi
  • SLOS
  • Meckel
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12
Q

What is associated with echogenic bowel?

A
  • T21
  • CF
  • infection
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13
Q

What is associated with cleft lip + palate?

A
  • T18
  • T13
  • T21
  • 4p-
  • 22q11
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14
Q

What is the carrier frequency of Sickle cell in the African American population?

A

1/10

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15
Q

What are the diseases with the 4 highest carrier frequencies in the Ashkenazi Jewish population?

A
  • Gaucher: 1/15
  • CF: 1/29
  • Tay-Sachs: 1/30
  • Dysautonomia: 1/32
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16
Q

What is the carrier frequency of CF in the European american population?

17
Q

What are the risks of T21 for a woman at 35, 40, 45?

Study These Flashcards
A

35: 1/300
40: 1/100
45: 1/35

18
Q

What does a T16 result on CVS mean?

19
Q

At what week does the neural tube close?

20
Q

What percentages of individuals with cleft lip also have cleft palate?

21
Q

Order the following in terms of higher to lower incidence of cleft lip +/- palate: Caucasian, Af. American, Asian

Study These Flashcards
A

Asian>Caucasian>Af. American

22
Q

What environmental factors increase risk for cleft lip +/- palate?

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A
  • antiepileptic drugs
  • retinoids
  • gestational diabetes
  • alcohol
  • smoking
23
Q

What percentage of cleft lip + palate cases are isolated?

24
Q

What percentage of cleft lip alone cases are isolated?

25
What is the recurrence risk of CHD with affected parent/sibling?
- parent: 2-6% (higher if mom) | - sibling: 2-3%
26
What is the recurrence risk of schizophrenia with affected parent/sibling?
- parent: 13% | - sibling: 9%
27
What is the recurrence risk of manic depressive disorder with affected parent/sibling?
- parent: 15% | - sibling: 13%
28
What is the recurrence risk of autoimmune disease with affected parent/sibling?
both: 3-5%
29
What is the recurrence risk of cleft lip + palate with affected parent/sibling?
- parent: 4% | - sibling: 2%
30
What is the recurrence risk of isolated cleft lip with affected parent/sibling?
- parent: 3% | - sibling: 2%
31
What percentage of first trimester losses are chromosomally abnormal?
50%
32
Where do the chromosomes come from in a complete mole?
father
33
What is the genetic makeup of a partial mole?
triploid, usually due to dispermy
34
anencephaly
absent parts of brain and skull; type of NTD
35
choroid plexus cyst
a "cyst" in the part of the brain that makes the cerebrospinal fluid which is really a bubble; present in 1-2% of normal fetuses
36
Dandy-Walker
a condition that affects brain development and usually involves hydrocephalus not well characterized genetically; may be caused by environmental factors
37
holoprosencephaly
single-lobed brain structure and severe skull and facial defects
38
spina bifida
failure of spinal to close properly leading to nerve damage and varying degrees of paralysis
39
pentalogy of Cantrell
5 findings: (just 2-3 required for condition_ - deficiency in diaphragm - defect in abdomen above belly button - defect in pericardium of diaphragm - various CHDs - defect in sternum
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