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DMST 315 OBGYN 3 > Module 6: Chromosome Abnormalities > Flashcards

Module 6: Chromosome Abnormalities Flashcards

(134 cards)

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1
Q

What is aneuploidy?

A

A state of having an abnormal number of chromosomes
1 extra or 1 less

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2
Q

What does having aneuploidy generally mean?

A

bad set

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3
Q

What is triosomy?

A

One extra complete or partial chromosome (47xy)

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4
Q

What is triploidy?

A

A complete extra set of chromosomes (69xxy, a form of polyploidy)

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5
Q

What is Turner’s syndrome?

A

45xo, missing a x or y from paternal side (sperm).

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6
Q

What is another name for turners syndrome?

A

Monosomy

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7
Q

What is the meiosis error that causes aneuploidy called?

A

Non-disjunction

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8
Q

What happens during non-disjunction?

A

A chromosome pair failed to separate during meiosis

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9
Q

The sperm has which 2 pairings with aneuploidy?

A
  1. 2 copies of a particular chromosome 46 + 1 = 47
  2. No copies of a particular chromosome 46 - 1 = 45
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10
Q

What is a haploid state?

A

Having a equal pairing of chromosome,
23 + 23 = 46

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11
Q

In terms of aneuploidy, once fertilization occurs the zygote either has what?

A

45 or 47 chromosomes, rather than 46

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12
Q

Approximately how many live born infants have a chromosome abnormalities?

A

1 in 160

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13
Q

What is the most common live born chromosome abnormality?

A

T21 : 1 in 800 births

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14
Q

Most common chromosome abnormality amount spontaneously aborted fetus is what?

A

Turner’s syndrome 45xo

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15
Q

What is more severe then T21?

A

T18 and T13

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16
Q

Which chromosomal abnormalities is considered lethal?

A

T13 and T18

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17
Q

Other autosomal trisomies besides T13 an T18 are how commonly seen? And how lethal are they?

A
  1. Rarely seen
  2. Lethal results
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18
Q

What is mosaicism?

A

When some individuals have some chromosomes that are euploidy and the other chromosomes are normal.

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19
Q

What kind of abnormalities does mosaicism individuals have?

A

Milder form of chromosomal abnormalities

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20
Q

Is T21 considered lethal?

A

No

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21
Q

What abnormalities are the major cause of mortality in infancy?

A

Cardiac

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22
Q

In T21 babies, what is the ratio of cardiac and gastric anomalies seen with T21?

A

1/2 have cardiac and gastric anomalies?

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23
Q

What increases the incidence of T21?

A

Increases with increasing maternal age (LMA >35 years)

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24
Q

Quad screen has a what rate detection rate of T21?

A

80%

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25
What are some T21 sonographic appearances? 9
1. Thick nuchal fold >6mm 2. Absent or hypoplastic nasal bone 3. Heart defects (AVSD, VSD, ASD) 4. Echogenic focus in one or both ventricles 5. Mild renal dilatation 6. Duodenal atresia or tracheoesophageal fistula 7. Shorted long bones 8. Club feet/ rocker bottom feet 9. Radial ray
26
What are some things we see with mild renal dilatation in T21?
Pelvic tasks also known as pyelectosis >5mm
27
What is the duodenal artesia sign?
Double bubble
28
What is the sign for tracheoesophageal fistula?
Increased AFI
29
What is a Atrioventricular canal defect of AV canal? 3
1. Single central valve with 5 leaflets 2. No mitral or tricuspid between the atria and ventricles 3. VSD
30
What are less specific sonographic appearances of T21? 8
1. Cystic hygroma 2. Non immune hydrops 3. Clinodactyly 4. Echogenic bowel 5. Omphalocele 6. Mild Ventriculomegaly 7. Sandal gap toes 8. Single umbilical artery
31
Soft markers suggest what?
A fetus could have a chromosomal abnormality
32
Do soft markers harm a fetus?
No
33
Seen alone, are soft markers considered an added risk?
No
34
If soft markers are seen with other soft markers, does it imply a risk of Chromosomal abnormalities?
No
35
What are some structural defects of the head in terms of T21? 5
1. Holoprosencephaly 2. Cleft lip/ palate 3. Micrognathia 4. Low set ears/ small ears 5. Macroglossia (enlarged tongue)
36
Can the triple screen maternal blood test detect T13?
Not predicted with triple screen
37
Label the triple screen maternal blood test?
38
What are three things we look for in triple screen- maternal testing?
1. Alpha fetoprotein 2. Human chorionic gonadotropin 3. Estriol
39
What does the quad screen look like for T21?
1. MSAFP decreased 2. B- hCG increased 3. UE3 decreased 4. Inhibin A increased
40
Increased Inhibin A is suggestive of what?
T21
41
No change in Inhibin A is suggestive of what?
T18
42
When are biochemical markers at 1st trimester screen looked with maternal testing? (Not weeks but the exam type?)
Nuchal translucency u/s
43
What is PAPP-A?
Pregnancy associated plasma protein A
44
What is B-hCG and PAPP-A look like for T21?
1. b-hCG increased 2. PAPP-A decreased
45
What is the prognosis of T18 or Edwards syndrome? 3
1. Almost always lethal or very poor prognosis? 2. 50% die in 1st two months of life 3. 90% die in the 1st year of life
46
Survivors of T18 babies generally have what?
Profound intellectual disabilities
47
Why does T18 babies have such a poor prognosis?
Heart and GI abnormalities
48
What is the 2nd most common chromosome abnormalities at birth?
T18 or Edwards syndrome
49
What is the occurrence rate of T18?
1 in every 3000 - 5000 births
50
What is T18 associated with?
LMA
51
What does the Triple screen markers look like for T18 babies?
All markers are low
52
What are some things seen sonographically with T18? 5
1. Early onset of symmetric IUGR with polyhydraminos 2. **Clenched fist and/ or clinodactyly** 3. Club feet and/or rocker bottom feet 4. **Choroid plexus (CPCs)** 5. Heart defects
53
What is symmetric IUGR with Polyhydraminos?
Symmetric meaning head and body are small
54
What is the most common heart defects of T18?
Large VSD
55
What are some less common sonographic appearances of T18? 10
1. Cleft lip and/ or palate 2. **Omphalocele** 3. Diaphragmatic hernia 4. Single umbilical artery 5. **strawberry shaped head** 6. Radial ray syndrome 7. Micrognathia 8. Cystic hygromas 9. Enlarged cisterna magna 10. Umbilical cysts
56
What does strawberry shaped head usually have?
Enlarged cisterna magna
57
Radio ray syndrome is what?
An absent radius resulting in a clubbed hand
58
What is the prognosis for T13? 3
1. Lethal or very poor prognosis? 2. 70% are stillborn 3. 85% die in 1st year
59
What is another name for T18?
Edwards syndrome
60
What is another name for T13?
Patau syndrome
61
Survivors of T13 or pataus syndrome generally have what?
Intellectual disability
62
What is the 3rd most common chromosome abnormality at birth?
T13
63
How many live briths are affected with T13?
1 in 5000 to 10000 births
64
What increases the risk of T13?
Advanced maternal age
65
Does triple screen detect T13?
No
66
What are some sonographic features of T13? 6
1. Holoprosencephaly 2. Cleft lip and/or palate 3. Eyes 4. Absent nose or nose replaced with proboscis 5. Omphalocele 6. Microcephaly or IUGR
67
What are some less specific sonographic features of T13? 8
1. Polydactyly 2. Clinodactyly 3. Club feet 4. Rocker bottom feet 5. Cystic hygroma 6. Severe heart defects 7. Polycystic kidneys 8. Enlarged cisterna magna
68
What are some midline Holoprosencephaly abnormalities? 4
1. Severe abnormality of the forebrain cleavage 2. Cerebrum or prosencephalon 3. Brain does not divide 4. **Fusion** of the cerebral hemispheres and thalami
69
Wha rare 3 classifications of Midline Holoprosencephaly?
1. Lobar (mild) 2. Semilobar 3. Alobar (severe)
70
What is the most severe Version of Holoprosencephaly?
A labor
71
What does Alobar holoprosencepahly look like? (How does the cortical mantle look, what is the division of the cerebral cortex, what is the shape of the ventricles, what is the status of the thalami and 3 ventricle, and what about the Falx)
1. Little or no cortical mantle 2. No division of cerebral cortex in hemispheres 3. Single horseshoe shaped ventricle 4. Fused thalami and absent 3rd ventricle 5. Falx is absent
72
What is a semilobar holoprocencephaly? 4 (shape of the ventricle, brain mantle, thalami, and Falx and 3rd ventricle)
1. Single horseshoe shaped ventricle 2. Some brain mantle 3. Incomplete fusion of the thalami 4. Absent Falx and 3rd ventricle
73
What is a lobar Holoprosencephaly? (Appearance of the anterior horns, Falx, ventricle) 3
1. Fused anterior horns that appears squared off 2. Incomplete Falx 3. A 3rd ventricle may be seen
74
What is Triploidy?
Having 3 complete chromosome sites
75
What is the fertilization ratio of Triploidy? 2
1. 60% fertilized with 2 sperm 2. 40% fertilization of a diploid egg
76
When we have fertilization with 2 sperm we have what?
Paternal or diandry
77
What do we think of when we have fertilzation of a diploid?
Maternal or digny
78
How common is triploidy?
Rare and usually lethal
79
What is bHCG like with Triploidy?
Markedly high (8x)
80
Is triploidy associated with maternal age?
No
81
Triploidy is considered what type of pregnancy?
Molar pregnancy
82
Paternal Triploidy is called what?
Dyspermy
83
How many individuals are Dyspermy in terms of Triploidy?
90%
84
What is the miscarriage rate for Dyspermy babies?
Over half
85
What do we see with Dyspermy babies? 3
1. Large hydropic placenta 2. Small symmetrical IUGR 3. Increased hCG
86
How many triploidy cases are digyny?
10%
87
What does this fetus represent?
T21 baby
88
What does this image demonstrate?
Nuchal fold
89
What does this image demonstrate?
Sonographic appearance of T21 AVSD
90
What does this image represent?
AVSD or atrioventricular canal defect
91
What does this image represent?
Sonographic Appearance of T21
92
What does this image demonstrate?
Pelviectasis
93
What does this image demonstrate?
Double bleb sign or duodenal atresia
94
What does this image represent?
Shortened femur or humerus
95
What does these images represent?
Cystic hygromas
96
What does these images represent?
Non immune hydrops
97
What does this image represent?
Clinodactyly 5th finger
98
What does this image represent?
Echogenic bowel
99
What does this image demonstrate?
Omphalocele
100
What does this image demonstrate?
Omphalocele later in pregnancy
101
What does his image represent?
Hydrocephalus
102
What does this image represent?
Sandal gap toes
103
What does these images represent?
Normal vs hypoplastic nasal bone
104
What does these images represent?
Normal Choroid vs CPC
105
What does these images represent?
Hand open vs Abnormal
106
What does this image represent?
Strawberry shaped head and brachycephaly
107
What does these images represent?
Club feet and rocker bottom
108
What does this image represent?
Normal radius vs radial ray syndrome
109
What does this image represent?
Holoprosencephaly increasing in severity 1. Normal 2. Lobar 3. Semilobar 4. Alobar
110
What does these images represent?
Variants of the ventricle shapes in Alobar holoprosencephaly, from 1. Pancake 2. Cup 3. Ball
111
What does this image represent?
Alobar holoprosencephaly
112
What does this image represent?
Lobar Holoprosencephaly
113
What does these images represent?
Abnormal faces of holoprosencephaly
114
What does these images represent?
Microphthalmia
115
What does these images represent?
Cyclops and median cleft lip
116
In terms of maternal- mother Triploidy, what are the S/S? 2
1. Asymmetric IUGR 2. Small placenta
117
What does the hCG look like with Maternal Triploidy during 2nd trimester?
2nd trimester is low due to small placenta
118
What is the sonographic appearance of the placenta with Triploidy? 2
1. Large placenta with cysts (only when fertilized with two sperm) *termed partial mole* 2. Small placenta with maternal Triploidy
119
What is the sonographic appearance of Triploidy? 10
1. Holoprosencephaly 2. Agenesis of the corpus callosum 3. Meningomyelocele 4. Arnold chiari malformation, and Ventriculomegaly 5. Heart defects 6. Facial clefts 7. Syndactyly 8. Club feat 9. Cystic hygroma 10. Omphalocele
120
Which demographic are the turners babies?
Females
121
Why are turners babies sterile?
They don’t have ovaries
122
Is maternal age a factor of Turner’s syndrome?
No
123
What is the prognosis of live tuners births?
Live born 45xo have few life threatening anomalies and normal intellect
124
What is the therapeutic abortion rate for turners?
95%
125
What is the sonographic appearance of Turner’s syndrome babies? 5
1. Cystic hygroma 2. Hydrops 3. Short limbs 4. Heart defects 5. Renal abnormalities
126
What are some heart defects of turners?
Coarctation of the aorta
127
What are some renal abnormalities of turners? 3
1. Agenesis 2. Horseshoe kidney 3. Pelvic kidney
128
What does Noonans syndrome get compared to?
Compared to tuners because of similar characteristics
129
Which genders are affected by noonans?
Males and females
130
What are some things that we see with Noonan syndrome? 3
1. Short stature 2. Neck webbing 3. Cardiac anomalies
131
What is the sonographic appearance to Noonan syndrome? 3
1. Similar to tuners but identifying a male fetus indicates Noonan’s 2. Cervical lymphatic drainage abnormalities producing a cystic hygroma 3. Cardiac defects
132
What does this image represent?
Turner’s syndrome
133
What does this image represent?
Cystic hygroma
134
What does this image represent?
Turner’s syndrome baby

DMST 315 OBGYN 3 (21 decks)

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