Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

ARRT (Ob/gyn US) > Chapter 30 Chromosomal Abnormalities > Flashcards

Chapter 30 Chromosomal Abnormalities Flashcards

You may prefer our related Brainscape-certified flashcards:
U.S. Geography flashcards
1
Q

Echogenic small bowel is most often associated with:

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

_______is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males?

A

Klinefelter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Webbed fingers or toes are termed:

A

Syndactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Cyclopia would most likely be associated with:

A

Trisomy 13
Patau syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?

A

Trisomy 13
Patau syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

The triple screen typically includes (3):

A
  • Alpha-fetoprotein
  • Estriol
  • hCG
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Normal diploid cells have:

A

46 chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Another name for patau syndrome is:

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Rounded head shape is referred to as:

A

Brachycephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

With what syndrome is brachycephaly most often associated with?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Advanced maternal age is considered to be:

A

> 35 years of age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

With what procedure is placental tissue obtained?

A

CVS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The bending of the fifth digit toward the fourth digit is called:

A

Clinodactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Pelvocaliectasis refers to:

A

Dilation of the renal pelvis and calices

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

A strawberry-shaped skull is associated with:

A

Edwards syndrome
(18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Monosomy X refers to:

A

Turner syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

The term for small eyes is:

A

Microphthalmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Fusion of the orbits and holoprosencephaly are associated with:

A

Patau syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is macroglossia most often associated with?

A

Trisomy 21 (Down Syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is another name for the most common chromosomal abnormality?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Theca lutein cysts would most likely be linked with a molar pregnancy and ______

A

Triploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

A molar pregnancy, omphhalocele and small, low-set ears are found often with:

A

Triploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Webbing of the neck and short stature is found in infertile female patients with a history of:

A

Turner syndrome

25
Q

The earliest invasive fetal karyotyping technique that can be performed is:

A

CVS

26
Q

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of:

A

Trisomy 13
(Patau Syndrome)

27
Q

A structural abnormality that results from an abnormal development describes:

A

Malformation

28
Q

A large space between the first and second toes is termed:

A

Sandal gap

29
Q

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:

A

Turner syndrome

30
Q

What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?

A

Chorionic villi

31
Q

The maternal serum screening of a mother with a fetus with trisomy 18 will reveal:

A

Decreased hCG, alpha-fetoprotein, and estriol

32
Q

Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for:

A

Trisomy 21

33
Q

Bilateral choroid plexus cysts, micrognathia and rockerbottom feet are sonographic findings of a 27 week fetus with omphalocele:

A

Trisomy 18
Edward’s syndrome

34
Q

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth has:

A

Triploidy

35
Q

Fetuses with edward syndrome have an extra ______

A

Chromosome 18

36
Q

Advanced maternal age is considered to be:

A

35+ years

37
Q

Fetuses with _____have an extra chromosome 21

A

Down syndrome

38
Q

______is the most common chromosomal abnormality

A

Down syndrome

39
Q

The fetus with ______ has an extra chromosome 13

A

Patau syndrome

40
Q

______is a chromosomal abnormality in which the fetus has 69 chromosomes instead of the normal 46

A

Trioloidy

41
Q

______is the buildup of fluid within at least two fetal body cavities

A

Nonimmune hydrops

42
Q

_______is a male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms and gynecomastia

A

Klinefelter syndrome

43
Q

The normal cell has ____chromosomes

A

46

44
Q

AFP is produced in the:

A

Yolk sac and fetal liver

45
Q

Estriol and hCG are produced by the:

A

Placenta

46
Q

______is when the fetus has only one sex chromosome

A

Turner syndrome (monosomy X)

47
Q

______is a condition in which there are an abnormal number of whole chromosomes

A

Aneuploidy

48
Q

______is a specific type of aneuploid in which there is an additional copy of the chromosome 18

A

Edwards syndrome

49
Q

______is an analysis of fetal chromosomes and is frequently recommended for women who are considered to be of advanced maternal age

A

Fetal karyotyping

50
Q

Maternal serum screening results of Patau syndrome

A
  1. Not always beneficial and depends upon the anomaly present
51
Q

Maternal serum screening results of triploidy

A
  1. Elevated hCG in the presence of a molar pregnancy
52
Q

First trimester sonographic findings of triploidy

A
  1. Cystic spaces seen within an enlarged placenta (molar pregnancy)
  2. Fetal demise
  3. Bilateral ovarian theca lutein cysts
53
Q

Maternal serum screening results of down syndrome

A
  1. Low MSAFP
  2. Low estriol
  3. High hCG
  4. Low PAPP-A
  5. High inhibin A
54
Q

Maternal serum screening results of edward syndrome

A
  1. Low AFP
  2. Low estriol
  3. Low hCG
  4. Low inhibin A
  5. Low PAPP-A
55
Q

Maternal serum screening results of turner syndrome

A
  1. Low estriol
  2. Low AFP
  3. Low hCG (with hydrops)
  4. Low inhibin A ( with hydrops)
  5. Low PAPP-A
56
Q

Sonographic findings turner syndrome

A
  1. Increased NT
  2. Cystic hygroma
  3. Renal anomalies(horse-shoe kidney and renal agenesis)
  4. Cardiac defects
  5. Nonimmune hydrops
  6. Female
57
Q

Sonographic findings edwards syndrome

A
  1. Strawberry shaped skull
  2. Choroid plexus cyst
  3. Micrognathia
  4. Rockerbottom feet
  5. Omphalocele
  6. Clenched fists
  7. Single umbilical artery
58
Q

Sonographic findings of Patau syndrome (13):

A
  1. Microcephaly
  2. Polydactyly
  3. Holoprosencephaly
  4. Ventriculomegaly
  5. Hydrocephalus
  6. Agenesis of the corpus callosum
  7. Small, low-set ears
  8. Facial anomalies
  9. Cardiac defects
  10. Omphalocele
  11. Nonimmune hydrops
  12. Renal anomalies
  13. Clubfoot
59
Q

Second and third trimester sonographic findings of triploidy

A
  1. Holoprosencephaly
  2. Dandy-walker malformation
  3. Agenesis of the corpus callosum
  4. Hydrocephalus
  5. Facial abnormalities
  6. Small, low set ears
  7. Cardiac defects
  8. Renal anomalies
  9. IUGR
  10. Omphalocele
  11. Syndactyly
  12. Single umbilical artery
  13. Clubfeet

ARRT (Ob/gyn US) (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions