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Obstetrics > Fetal abnormalities > Flashcards

Fetal abnormalities Flashcards

(50 cards)

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1
Q

Inheritance pattern - Marfan’s

A

Autosomal Dominant

Recurrence rate 50%

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2
Q

Inheritance pattern - Neurofibromatosis

A

Autosomal Dominant

Recurrence rate 50%

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3
Q

Inheritance pattern - Huntingtons Chorea

A

Autosomal Dominant

Recurrence rate 50%

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4
Q

Inheritance pattern - von Willebrand’s disease

A

Autosomal Dominant

Recurrence rate 50%

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5
Q

Inheritance pattern - Polycystic kidney disease with adult onset

A

Autosomal Dominant

Recurrence rate 50%

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6
Q

Inheritance pattern - PKU

A

Autosomal Recessive

Recurrence rate 25%

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7
Q

Inheritance pattern - congenital adrenal hyperplasia

A

Autosomal Recessive

Recurrence rate 25%

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8
Q

Inheritance pattern - Thalassemia

A

Autosomal Recessive

Recurrence rate 25%

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9
Q

Inheritance pattern - Cystic fibrosis

A

Autosomal Recessive

Recurrence rate 25%

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10
Q

Inheritance pattern - Galactomsemia

A

Autosomal Recessive

Recurrence rate 25%

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11
Q

Inheritance pattern - metabolic disorders (tay sachs or mucopolsaccaridosis)

A

Autosomal Recessive

Recurrence rate 25%

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12
Q

Inheritance pattern - diabetes insipidus

A

Sex linked

Recurrence rate 50%

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13
Q

Inheritance pattern - hemophilia

A

Sex linked

Recurrence rate 50%

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14
Q

Inheritance pattern - muscular dystrophy

A

Sex linked

Recurrence rate 50%

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15
Q

Inheritance pattern - placental sulfatase deficiency

A

Sex linked

Recurrence rate 50%

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16
Q

Inheritance pattern - Testicular feminization

A

Sex linked

Recurrence rate 50%

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17
Q

Inheritance pattern - neural tube defect

A

Multifactorial

3-5%

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18
Q

Inheritance pattern - Anencephaly

A

Multifactorial

3-5%

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19
Q

Inheritance pattern - Spina bifida

A

Multifactorial

3-5%

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20
Q

Inheritance pattern - congenital heart disease

A

Multifactorial

3-5%

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21
Q

Inheritance pattern - mullerian agenesis

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A

Multifactorial

3-5%

22
Q

Inheritance pattern - endometriosis

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A

Multifactorial

3-5%

23
Q

Inheritance pattern - trisomy 21

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A

Chromosomal errors

1%

24
Q

Inheritance pattern - Turner’s Syndrome

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A

Chromosomal errors

1%

25
SGA, 2 vessel cord, short sternum, overlapping clenched fingers, rocker bottom feet
Trisomy 18 (Edwards)
26
Recurrence rate of Trisomy 18 (Edwards)
1 in 3,500
27
Survival rate of Trisomy 18 (Edwards)
<10% survive to 1 year
28
SGA, facial clefts, ocular anomalies, polydactactly
Trisomy 13 (Patau)
29
Survival rate of Trisomy 13 (Patau)
1 in 5,000
30
Survival rate of Trisomy 13
<3% survive to 3 years
31
High pitched cry "cat cry," epicanthal fold, mental retardation
5 P (Cri-Du-Chat)
32
Recurrence rate of Cri-Du-Chat
1 in 20,000
33
Short stature, web neck (cystic hygroma), pigmented nevi, low posterior hairline, trouble hearing (high arched palate), normal IQ, wide space nipples, increased carrying walk (Omar's walk), shield chest, streak gonads, coarctation of the aorta, renal anomalies
Turner's Syndrome
34
Recurrence rate of Turner's Syndrome
1 in 3,500
35
Survival rate of Turner's syndrome
<10% survive to 1 year
36
What conditions are associated with high msAFP?
``` Open NTD (omphalocele, gastroschisis) Congenital nephrosis Cystic hygroma Twins Fetal death Osteogenesis imperfecta ```
37
What conditions are associated with low msAFP?
``` Chromosomal trisomies (13, 18, 21) Gestational trophoblastic dz Fetal death Overestiated gestational age Increased maternal wt ```
38
Associated with high or low msAFP? - open NTD
High
39
Associated with high or low msAFP? - Congential nephrosis
High
40
Associated with high or low msAFP? - Cystic hygroma
High
41
Associated with high or low msAFP? - Twins
High
42
Associated with high or low msAFP? - fetal death
High
43
Associated with high or low msAFP? - osteogenesis imperfecta
High
44
Associated with high or low msAFP? - Chromosomal trisomies (13, 18, 21)
Low
45
Associated with high or low msAFP? - Gestational trophoblastic dz
Low
46
Associated with high or low msAFP? - fetal death
Low
47
Associated with high or low msAFP? - overestimated gestational age
Low
48
Associated with high or low msAFP? - increased maternal wt
Low
49
Lymphatic lesion in the left posterior triangle of the neck
Cystic hygroma
50
What conditions is cystic hygroma associated with?
Fetal hydrops Turner's Syndrome (45X) Noonan syndrome

Obstetrics (13 decks)

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