Chapter 30 Chromosomal Abnormalities

Question 1

Echogenic small bowel is most often associated with:

Answer 1

Down syndrome

Question 2

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

Answer 2

Klinefelter syndrome

Question 3

Webbed fingers or toes are termed:

Answer 3

Syndactyly

Question 4

Cyclopia would most likely be associated with:

Answer 4

Trisomy 13
Patau syndrome

Question 5

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

Answer 5

Trisomy 13
Patau syndrome

Question 6

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

Answer 6

Down syndrome

Question 7

The triple screen typically includes (3):

Answer 7

• Alpha-fetoprotein
• Estriol
• hCG

Question 8

Normal diploid cells have:

Answer 8

46 chromosomes

Question 9

Another name for patau syndrome is:

Answer 9

Trisomy 13

Question 10

Rounded head shape is referred to as:

Answer 10

Brachycephaly

Question 11

With what syndrome is brachycephaly most often associated with?

Answer 11

Down syndrome

Question 12

Advanced maternal age is considered to be:

Answer 12

> 35 years of age

Question 13

With what procedure is placental tissue obtained?

Answer 13

CVS

Question 14

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

Answer 14

Clinodactyly

Question 15

Pelvocaliectasis refers to:

Answer 15

Dilation of the renal pelvis and calices

Question 16

A strawberry-shaped skull is associated with:

Answer 16

Edwards syndrome
(18)

Question 17

Monosomy X refers to:

Answer 17

Turner syndrome

Question 18

The term for small eyes is:

Answer 18

Microphthalmia

Question 19

Fusion of the orbits and holoprosencephaly are associated with:

Answer 19

Patau syndrome

Question 20

What is macroglossia most often associated with?

Answer 20

Trisomy 21 (Down Syndrome)

Question 21

What is another name for the most common chromosomal abnormality?

Answer 21

Down syndrome

Question 22

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

Answer 22

Triploidy

Question 23

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

Answer 23

Triploidy

Question 24

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

Answer 24

Turner syndrome

Question 25

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

Answer 25

CVS

Question 26

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

Answer 26

Trisomy 13 (Patau Syndrome)

Question 27

A structural abnormality that results from an abnormal development describes:

Answer 27

Malformation

Question 28

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

Answer 28

Sandal gap

Question 29

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

Answer 29

Turner syndrome

Question 30

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

Answer 30

Chorionic villi

Question 31

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

Answer 31

Decreased hCG, alpha-fetoprotein, and estriol

Question 32

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

Answer 32

Trisomy 21

Question 33

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

Answer 33

Trisomy 18 Edward’s syndrome

Question 34

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

Answer 34

Triploidy

Question 35

Fetuses with edward syndrome have an extra ______

Answer 35

Chromosome 18

Question 36

Advanced maternal age is considered to be:

Answer 36

35+ years

Question 37

Fetuses with _____have an extra chromosome 21

Answer 37

Down syndrome

Question 38

______is the most common chromosomal abnormality

Answer 38

Down syndrome

Question 39

The fetus with ______ has an extra chromosome 13

Answer 39

Patau syndrome

Question 40

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

Answer 40

Trioloidy

Question 41

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

Answer 41

Nonimmune hydrops

Question 42

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

Answer 42

Klinefelter syndrome

Question 43

The normal cell has ____chromosomes

Answer 43

46

Question 44

AFP is produced in the:

Answer 44

Yolk sac and fetal liver

Question 45

Estriol and hCG are produced by the:

Answer 45

Placenta

Question 46

______is when the fetus has only one sex chromosome

Answer 46

Turner syndrome (monosomy X)

Question 47

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

Answer 47

Aneuploidy

Question 48

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

Answer 48

Edwards syndrome

Question 49

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

Answer 49

Fetal karyotyping

Question 50

Maternal serum screening results of Patau syndrome

Answer 50

1. Not always beneficial and depends upon the anomaly present

Question 51

Maternal serum screening results of triploidy

Answer 51

1. Elevated hCG in the presence of a molar pregnancy

Question 52

First trimester sonographic findings of triploidy

Answer 52

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

Question 53

Maternal serum screening results of down syndrome

Answer 53

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

Question 54

Maternal serum screening results of edward syndrome

Answer 54

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

Question 55

Maternal serum screening results of turner syndrome

Answer 55

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

Question 56

Sonographic findings turner syndrome

Answer 56

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

Question 57

Sonographic findings edwards syndrome

Answer 57

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

Question 58

Sonographic findings of Patau syndrome (13):

Answer 58

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

Question 59

Second and third trimester sonographic findings of triploidy

Answer 59

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