Fetal Syndromes 1

Question 1

Syndrome

Answer 1

Collection of symptoms that are characteristics of a single condition

Question 2

What is the most common reason for loss of pregnancy in the first trimester?

Answer 2

chromosomal abnormalities

Question 3

With autosomal dominant inheritance, what is the chance of the affected parent passing down the abnormal gene?

Answer 3

50%

Question 4

True or False: With autosomal dominant inheritance, 100% of children who inherit the abnormal gene will be affected

Answer 4

True

Question 5

With autosomal recessive inheritance, what is the chance of passing it to the offspring when both parents are affected?

Answer 5

25%

Question 6

Which syndrome is associated with X-linked recessive inheritance?

Answer 6

Turner Syndrome

Question 7

Which gender is more affected by X-linked recessive inheritance?

Answer 7

men

Question 8

Deformations

Answer 8

mechanical forces that alter form, position, or shape

Question 9

What are causes of deformations?

Answer 9

PROM, renal agenesis, oligohydramnios

Question 10

Malformations

Answer 10

normal development is altered

Question 11

Cause of malformations

Answer 11

chromosomal abnormalities

Question 12

Disruptions

Answer 12

something extrinsic affects normal development

Question 13

Cause of disruptions

Answer 13

amniotic bands

Question 14

AFP is best evaluated in maternal serum when?

Answer 14

16-18 weeks

Question 15

AFP is produced by?

Answer 15

yolk sac and fetal liver

Question 16

AFP is associated which defects of?

Answer 16

GI tract and neural tube

Question 17

What is the most common cause of abnormal AFP levels?

Answer 17

incorrect estimation of gestational age

Question 18

hCG is produced by?

Answer 18

trophoblast then placenta

Question 19

hCG is elevated with cases of?

Answer 19

down syndrome

Question 20

Unconjugated estriol is also known as?

Answer 20

uE3

Question 21

uE3 is produced by?

Answer 21

fetus and placenta

Question 22

uE3 is significantly decreased with in cases of?

Answer 22

down syndrome

Question 23

inhibin A is produced by?

Answer 23

placenta

Question 24

The triple marker screening tests levels of?

Answer 24

hCG, estriol, and AFP

Question 25

Unconjugated estriol is seen in which trimester?

Answer 25

first

Question 26

The triple marker serum levels are down syndrome are?

Answer 26

low AFP, low estriol, **high** hCG

Question 27

The triple marker serum levels for turner syndrome are?

Answer 27

decreased AFP, decreased estriol, and **very high** hCG

Question 28

The triple marker serum levels for Edward's syndrome are?

Answer 28

unchanged AFP, **low** estriol, **very low** hCG

Question 29

The triple marker serum levels for Patau's syndrome are?

Answer 29

**increased** AFP, normal estriol, normal hCG

Question 30

CVS is performed when?

Answer 30

10-12 weeks

Question 31

True or False: CVS is not invasive and poses no risks to baby

Answer 31

False; more invasive and can cause pregnancy loss

Question 32

Amniocentesis is performed when?

Answer 32

16-18 weeks

Question 33

Ethmocephaly

Answer 33

extreme hypotelorism, arrhinia, midline proboscis

Question 34

Cebocephaly

Answer 34

flat nose, single nostril, hypotelorism; **monkey-shaped head**

Question 35

Macroglossia is associated with?

Answer 35

down syndrome, beckwith-wiedemann syndrome

Question 36

Clinodactyly

Answer 36

curving of the fifth finger

Question 37

Camptodactyly

Answer 37

abnormal bending of one or more fingers

Question 38

syndactyly

Answer 38

fingers fused together

Question 39

hitchhiker thumb

Answer 39

abnormal backward bending of thumb

Question 40

ectrodactyly

Answer 40

absence of one or more fingers or toes

Question 41

talipomanus

Answer 41

deformity of the hand; club hand

Question 42

Which bone is absent with talipomanus?

Answer 42

radius

Question 43

talipes equinovarus

Answer 43

club foot

Question 44

Rocker bottom foot is also called?

Answer 44

congenital vertical talus

Question 45

Rocker bottom foot

Answer 45

prominent calcaneus and convex rounded bottom foot

Question 46

sandal gap

Answer 46

increased space between great toe and rest of toes