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Obstetrics > Fetal abnormalities > Flashcards

Fetal abnormalities Flashcards

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

A

Multifactorial

3-5%

22
Q

Inheritance pattern - endometriosis

A

Multifactorial

3-5%

23
Q

Inheritance pattern - trisomy 21

A

Chromosomal errors

1%

24
Q

Inheritance pattern - Turner’s Syndrome

A

Chromosomal errors

1%

25
Q

SGA, 2 vessel cord, short sternum, overlapping clenched fingers, rocker bottom feet

A

Trisomy 18 (Edwards)

26
Q

Recurrence rate of Trisomy 18 (Edwards)

A

1 in 3,500

27
Q

Survival rate of Trisomy 18 (Edwards)

A

<10% survive to 1 year

28
Q

SGA, facial clefts, ocular anomalies, polydactactly

A

Trisomy 13 (Patau)

29
Q

Survival rate of Trisomy 13 (Patau)

A

1 in 5,000

30
Q

Survival rate of Trisomy 13

A

<3% survive to 3 years

31
Q

High pitched cry “cat cry,” epicanthal fold, mental retardation

A

5 P (Cri-Du-Chat)

32
Q

Recurrence rate of Cri-Du-Chat

A

1 in 20,000

33
Q

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

A

Turner’s Syndrome

34
Q

Recurrence rate of Turner’s Syndrome

A

1 in 3,500

35
Q

Survival rate of Turner’s syndrome

A

<10% survive to 1 year

36
Q

What conditions are associated with high msAFP?

A 
Open NTD (omphalocele, gastroschisis)
Congenital nephrosis
Cystic hygroma
Twins
Fetal death
Osteogenesis imperfecta
37
Q

What conditions are associated with low msAFP?

A 
Chromosomal trisomies (13, 18, 21)
Gestational trophoblastic dz
Fetal death
Overestiated gestational age
Increased maternal wt
38
Q

Associated with high or low msAFP? - open NTD

A

High

39
Q

Associated with high or low msAFP? - Congential nephrosis

A

High

40
Q

Associated with high or low msAFP? - Cystic hygroma

A

High

41
Q

Associated with high or low msAFP? - Twins

A

High

42
Q

Associated with high or low msAFP? - fetal death

A

High

43
Q

Associated with high or low msAFP? - osteogenesis imperfecta

A

High

44
Q

Associated with high or low msAFP? - Chromosomal trisomies (13, 18, 21)

A

Low

45
Q

Associated with high or low msAFP? - Gestational trophoblastic dz

A

Low

46
Q

Associated with high or low msAFP? - fetal death

A

Low

47
Q

Associated with high or low msAFP? - overestimated gestational age

A

Low

48
Q

Associated with high or low msAFP? - increased maternal wt

A

Low

49
Q

Lymphatic lesion in the left posterior triangle of the neck

A

Cystic hygroma

50
Q

What conditions is cystic hygroma associated with?

A

Fetal hydrops
Turner’s Syndrome (45X)
Noonan syndrome

Obstetrics (13 decks)

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