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Ob / Gyn 2 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

(71 cards)

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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
What are the less specific sonographic appearance of T21
``` Cystic hydroma Non immune hydrops Clinodactyly Echogenic bowel Omphalocele Mild ventriculomegaly Sandal foot toes ```
26
What will the triple screen test show for T21
MSAFP decreased B hCG increased UE3 decreased
27
What will the triple screen show for T18
MSAFP decreased B hCG decreased UE3 decreased
28
What will the triple screen show for T13
Nothing, as it cannot be predicted with the triple screen
29
What values are tested in the quad screen
AFP UE3 B hCG Inhibin A
30
What is UE3
Unconjugated estriol
31
An increase in Inhibin A is suggestive of what
Down syndrome
32
What are the biochemical markers at 1st trimester screen
B-hCG | PAPP-A
33
What is PAPP-A
Pregnancy associated plasma protein
34
What will the biochemical markers be at first trimester screen if the fetus has T21
B-hCG increased | PAPP-A decreased
35
What is another name for T18
Edwards syndrome
36
Trisomy 18 is almost always
Lethal or a very poor prognosis
37
Survivors of T18 will have profound what
Mental retardation
38
Why does T18 have a poor prognosis
Because of the heart and GI abnormalities
39
T18 is the 2nd most common what
Chromosomal abnormality seen at birth
40
What is T18 associated with
LMA
41
What is the sonographic appearance of T18
``` Early onset of SYMMETRIC IUGR w/ polyhydramnios Clenched fists and/or clinodactyly Club feet and/or rocker bottom feet CPC’s Heart defects ```
42
What is the most common heart defect seen in a fetus that has T18
Large VSD
43
What are the less specific sonographic appearances of T18
``` Cleft lip and/or palate Omphalocele Diaphragmatic hernia Single umbilical artery STRAWBERRY SHAPED HEAD Radial ray syndrome Micrognathia Cystic hygroma Enlarged cisterna magna ```
44
What is radial ray syndrome
A absent radius resulting in a clubbed hand
45
What is another name for trisomy 13
Patau syndrome
46
What is the prognosis for T13
Lethal or very poor
47
What will survivors of T13 have
Profound mental retardation
48
T13 is the 3rd most common what
Chromosomal abnormality seen at birth
49
A mother with advanced maternal age will have a increased risk for having a fetus with
T13
50
What is the sonographic appearance of T13
Midline defects | -holoprosencephaly
51
What is holoprosencephaly
Severe abnormality of the forebrain cleavage
52
Holoprosencephaly is the fusion of
The cerebral hemispheres and thalami
53
What are the 3 classifications for holoprosencephaly
Lobar Semilobar Alobar
54
Alobar holoprosencephaly is when
There is little or no cortical mantle Single horseshoe shaped ventricle Fused thalami Absent 3rd ventricle and falx
55
What is semilobar holoprosencephaly
Single horseshoe shaped ventricle with brain mantle Incomplete fusion of the thalami Absent falx and 3rd ventricle
56
What is lobar holoprosencephaly
Fused anterior horns, that are squared off Incomplete falx 3rd ventricle may be seen
57
What are the sonographic features of T13
``` Cleft lip and/or palate -unilateral/ bilateral/ midline Eyes -micropthalmia -hypotelorism -Cyclopia Abesent nose or nose replaced with proboscis Omphalocele Microcephaly IUGR ```
58
What are the less specific sonographic features
``` Polydactyly Clinodactyly Club feet Rocker bottom feet Cystic hygroma Severe heart defects Polycystic kidneys Enlarged cisterna magna ```
59
Triploidy is
Rare and usually lethal | Partial molar pregnancy
60
Triploidy is not
Associated with maternal age
61
Parental triploidy will
Hal=EV half miscarry Large hydropic placenta Small symmetrical IUGR Increased hCG
62
Maternal triploidy will have
More live births Small placenta Asymmetric IUGR 2nd trimester low hCG due to small placenta
63
What is the sonographic appearance of triploidy
``` Holoprosencephaly Agenesis of the corpus callosum Meningomyelocele Arnold chiari malformation Ventriculomegaly Heart defects Facial clefts Syndactyly Club feet Cystic hygroma Omphalocele ```
64
Triploidy will have what kind of placenta
Thick with cystic areas
65
Turner’s syndrome patients are all what
Female
66
Is maternal age a factor for turners syndrome
No
67
Turners syndrome are missing one what
Sex chromosome
68
Turners syndrome is the most common
Chromosomal abnormality in spontaneous aborted fetuses
69
If a turners syndrome fetus lives what will they have
Few life threatening anomalies | Normal intellect
70
What is the sonographic appearance of turners syndrome
``` Cystic hydrops Hydrops Heart defects Renal agenesis Horseshoe kidney Pelvic kidney ```
71
What is most common heart defect in a turners syndrome fetus
Coarctation of the aorta

Ob / Gyn 2 (8 decks)

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