test 5 review

What is the type of anomalies these fall under - select from these (malformations, Deformation, Disruption, Dysplasia)

1. Clefting of the lip or palate is a type of _______

2. amputation of an extremity caused by amniotic bands ________

3. Clubbing of the extremities caused by oligohydramnios ______

1) Malformation

2) Disruption

3) Deformation

_____ pairs of autosomes and _____ sex chromosomes

a. 26, 7

b. 22, 2

c. 34,3

d. 46,4

22, 2

Which inheritance pattern requires only one parent to carry the affected gene for a child to have a 50% chance of inheriting the condition?

1. a) Autosomal recessive

2. b) Autosomal dominant

3. c) X-linked recessive

4. d) Multifactorial

Autosomal dominant

A child has a 25% chance of expressing a specific trait, a 50% chance of being a carrier, and a 25% chance of neither expressing the trait nor being a carrier. What is the most likely inheritance pattern?

1. a) Autosomal dominant

2. b) Autosomal recessive

3. c) X-linked dominant

4. d) Multifactorial

Autosomal recessive

Which of the following is NOT a typical reason for performing CVS?

1. a) Diagnosing chromosomal abnormalities

2. b) Determining fetal blood type

3. c) Assessing for genetic disorders

4. d) Confirming pregnancy

Confirming pregnancy

CVS is typically performed between which gestational weeks?

a) 6-8 weeks

b) 10-13 weeks

c) 16-18 weeks

d) 20-22 week

10-13 weeks

What is the most likely diagnosis based on the sonographic findings in the image shown?

1. Trisomy 21

2. Trisomy 18

3. Trisomy 13

4. Turner syndrome

Trisomy 18

What is the most likely diagnosis based on the sonographic findings in the image shown?

a. Trisomy 21

b. Trisomy 18

c. Trisomy 13

d. Turner syndrome

Trisomy 13

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

a. trisomy 21.

b. trisomy 18

c. triploidy.

d. Turner syndrome

triploidy

Shortening of proximal segment of extremity (humerus or femur)- is called

a. Rhizomelia

b. Amelia

c. Mesomelia

d. Acromelia

Rhizomelia

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

1. polydactyly.

2. clubfoot.

3. ulnaration.

4. sandal gap

sandal gap

Most common genetic skeletal dysplasia

1. Heterozygous achondroplasia

2. Homozygous achondroplasia

3. Short-rib polydactyly syndrome

4. Campomelic dysplasia

Heterozygous achondroplasia

Features are for Thanatophoric dysplasia except

a. Oligoamnios

b. Cloverleaf skull (Kleeblattschadel)

c. Severely shortened limbs

d. Hypoplastic thorax: because of narrow chest

Oligoamnios

What condition is associated with bilateral renal agenesis, oligohydramnios, and fusion of the lower extremities?

a. Sirenomelia

b. Acrenomelia

c. Syringomyelia

d. Schizomelia

Sirenomelia

A protein produced by the yolk sac and fetal liver that is found in excess in the maternal circulation in the presence of a neural tube defect is:
a. Calcium
b. Alpha feto protein
c. Prolactin

Alpha feto protein

The most common nonlethal skeletal dysplasia is:

1. achondrogenesis.

2. achondroplasia.

3. thanatophoric dysplasia.

4. osteogenesis imperfecta

achondroplasia

What is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect?

1. AFP

2. Estriol

3. Folate

4. Pregnancy protein A

Folate

What is the image showing?

a. Tallies equino varus

b. Rocker bottom foot

c. Normal fetal foot

Tallies equino varus

What is the section and what is shown?

a. Sagittal spine

b. Transverse spine

c. Coronal spine

Transverse spine

What is the plane of this spine?

1. Sagittal spine

2. Transverse spine

3. Coronal spine

Sagittal spine

What is the plane of this spine?

1. Sagittal spine

2. Transverse spine

3. Coronal spine

Coronal spine

The condition associated with the absence of the sacrum and coccyx:

1. limb-body wall complex.

2. caudal regression syndrome.

3. thanatophoric dwarfism.

4. heterozygous achondroplasia

caudal regression syndrome.