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Ob / Gyn 2 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

Aneuploidy

A

State of having an abnormal number of chromosomes

- 1 extra or 1 less

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2
Q

Trisomy

A

One extra complete or partial chromosome

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3
Q

If you have trisomy how many chromosomes will you have

A

47

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4
Q

Triploidy

A

A complete extra set of chromosomes

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5
Q

What is triploidy a form of

A

Polyploidy

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6
Q

How many chromosomes will you have if you have triploidy

A

69

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7
Q

Turners syndrome

A

Missing an x or y from the paternal side

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8
Q

What is turners syndrome called

A

Monosomy

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9
Q

How many chromosomes do you have if you have turners syndrome

A

45xo

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10
Q

What is the meotic error that causes aneuploidy called

A

Non-disjunction

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11
Q

What is non-disjunction

A

When the chromosome pair fails to separate during meiosis

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12
Q

What does the sperm to oocyte have 2 copies of or no copies of? And it is instead of one copy in what state?

A

A particular chromosome

-haploid

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13
Q

Once fertilization occurs the zygote will have how many chromosomes if it has aneuploidy

A

45 or 47

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14
Q

What is the most common live born chromosome abnormality

A

Trisomy 21

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15
Q

What is the most common chromosome abnormality among spontaneously aborted fetuses

A

Turner’s syndrome

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16
Q

Trisomy 18 and 13 are more severe than

A

Trisomy 21

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17
Q

What other kind trisomies are rarely seen because of the lethal result and early pregnancy loss

A

Autosomal

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18
Q

What is another name for trisomy 21

A

Down syndrome

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19
Q

What is the major cause of increased mortality in trisomy 21 infants

A

Cardiac abnormalities

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20
Q

Trisomy 21 people will have decreased what, and does the severity vary?

A

Intelligence and yes

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21
Q

Is trisomy 21 considered lethal

A

No

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22
Q

What kind of test for trisomy 21 has a 60% detection rate

A

Triple screen

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23
Q

What is the sonographic appearance of trisomy 21

A
  • thick nuchal fold
  • heart defects
  • mild renal dilatation >/5mm
  • Duodenal atresia or TE fistula
  • shortened long bones
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24
Q

Pelviectasis is also called

A

Pyelectosis

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25
Q

What are the less specific sonographic appearance of T21

A 
Cystic hydroma
Non immune hydrops
Clinodactyly
Echogenic bowel
Omphalocele
Mild ventriculomegaly 
Sandal foot toes
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26
Q

What will the triple screen test show for T21

A

MSAFP decreased
B hCG increased
UE3 decreased

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27
Q

What will the triple screen show for T18

A

MSAFP decreased
B hCG decreased
UE3 decreased

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28
Q

What will the triple screen show for T13

A

Nothing, as it cannot be predicted with the triple screen

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29
Q

What values are tested in the quad screen

A

AFP
UE3
B hCG
Inhibin A

30
Q

What is UE3

A

Unconjugated estriol

31
Q

An increase in Inhibin A is suggestive of what

A

Down syndrome

32
Q

What are the biochemical markers at 1st trimester screen

A

B-hCG

PAPP-A

33
Q

What is PAPP-A

A

Pregnancy associated plasma protein

34
Q

What will the biochemical markers be at first trimester screen if the fetus has T21

A

B-hCG increased

PAPP-A decreased

35
Q

What is another name for T18

A

Edwards syndrome

36
Q

Trisomy 18 is almost always

A

Lethal or a very poor prognosis

37
Q

Survivors of T18 will have profound what

A

Mental retardation

38
Q

Why does T18 have a poor prognosis

A

Because of the heart and GI abnormalities

39
Q

T18 is the 2nd most common what

A

Chromosomal abnormality seen at birth

40
Q

What is T18 associated with

41
Q

What is the sonographic appearance of T18

A 
Early onset of SYMMETRIC IUGR w/ polyhydramnios 
Clenched fists and/or clinodactyly 
Club feet and/or rocker bottom feet 
CPC’s 
Heart defects
42
Q

What is the most common heart defect seen in a fetus that has T18

43
Q

What are the less specific sonographic appearances of T18

A 
Cleft lip and/or palate
Omphalocele
Diaphragmatic hernia 
Single umbilical artery 
STRAWBERRY SHAPED HEAD 
Radial ray syndrome 
Micrognathia 
Cystic hygroma 
Enlarged cisterna magna
44
Q

What is radial ray syndrome

A

A absent radius resulting in a clubbed hand

45
Q

What is another name for trisomy 13

A

Patau syndrome

46
Q

What is the prognosis for T13

A

Lethal or very poor

47
Q

What will survivors of T13 have

A

Profound mental retardation

48
Q

T13 is the 3rd most common what

A

Chromosomal abnormality seen at birth

49
Q

A mother with advanced maternal age will have a increased risk for having a fetus with

50
Q

What is the sonographic appearance of T13

A

Midline defects

-holoprosencephaly

51
Q

What is holoprosencephaly

A

Severe abnormality of the forebrain cleavage

52
Q

Holoprosencephaly is the fusion of

A

The cerebral hemispheres and thalami

53
Q

What are the 3 classifications for holoprosencephaly

A

Lobar
Semilobar
Alobar

54
Q

Alobar holoprosencephaly is when

A

There is little or no cortical mantle
Single horseshoe shaped ventricle
Fused thalami
Absent 3rd ventricle and falx

55
Q

What is semilobar holoprosencephaly

A

Single horseshoe shaped ventricle with brain mantle
Incomplete fusion of the thalami
Absent falx and 3rd ventricle

56
Q

What is lobar holoprosencephaly

A

Fused anterior horns, that are squared off
Incomplete falx
3rd ventricle may be seen

57
Q

What are the sonographic features of T13

A 
Cleft lip and/or palate 
-unilateral/ bilateral/ midline
Eyes
-micropthalmia 
-hypotelorism 
-Cyclopia
Abesent nose or nose replaced with proboscis 
Omphalocele 
Microcephaly 
IUGR
58
Q

What are the less specific sonographic features

A 
Polydactyly
Clinodactyly 
Club feet
Rocker bottom feet
Cystic hygroma
Severe heart defects 
Polycystic kidneys 
Enlarged cisterna magna
59
Q

Triploidy is

A

Rare and usually lethal

Partial molar pregnancy

60
Q

Triploidy is not

A

Associated with maternal age

61
Q

Parental triploidy will

A

Hal=EV half miscarry
Large hydropic placenta
Small symmetrical IUGR
Increased hCG

62
Q

Maternal triploidy will have

A

More live births
Small placenta
Asymmetric IUGR
2nd trimester low hCG due to small placenta

63
Q

What is the sonographic appearance of triploidy

A 
Holoprosencephaly 
Agenesis of the corpus callosum 
Meningomyelocele
Arnold chiari malformation 
Ventriculomegaly 
Heart defects
Facial clefts
Syndactyly
Club feet
Cystic hygroma 
Omphalocele
64
Q

Triploidy will have what kind of placenta

A

Thick with cystic areas

65
Q

Turner’s syndrome patients are all what

66
Q

Is maternal age a factor for turners syndrome

67
Q

Turners syndrome are missing one what

A

Sex chromosome

68
Q

Turners syndrome is the most common

A

Chromosomal abnormality in spontaneous aborted fetuses

69
Q

If a turners syndrome fetus lives what will they have

A

Few life threatening anomalies

Normal intellect

70
Q

What is the sonographic appearance of turners syndrome

A 
Cystic hydrops
Hydrops 
Heart defects 
Renal agenesis 
Horseshoe kidney 
Pelvic kidney
71
Q

What is most common heart defect in a turners syndrome fetus

A

Coarctation of the aorta

Ob / Gyn 2 (8 decks)

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