Ch. 55 Test

Question 1

_____ refers to having extra fingers or toes

Answer 1

polydactyly

Question 2

______ is a protein made in the fetal liver that enters the amniotic fluid through fetal urination and is absorbed into the maternal blood stream across the fetal membranes

Answer 2

AFP

Question 3

_____ occurs due to abnormal drainage of the lymphatic system

Answer 3

cystic hygroma

Question 4

_____ is an abnormally small chin

Answer 4

micrognathia

Question 5

______ is a procedure that involves removal of amniotic fluid from the uterus with a needle through the maternal abdomen

Answer 5

amniocentesis

Question 6

______ is an anterior abdominal wall defect in which abdominal contents are herniated into the base of the umbilical cord

Answer 6

omphalocele

Question 7

______ is a dilation of the fetal abdomen due to severe fetal hydronephrosis and ascites. The baby also has hypoplastic lungs and oligohydramnios

Answer 7

prune belly syndrome

Question 8

____ is a procedure that involves aspiration from the trophoblastic tissue that forms the placenta

Answer 8

chorionic villous sampling

Question 9

_____ is a procedure in which a tiny camera is inserted into the uterus to image the fetus

Answer 9

embryoscopy

Question 10

_____ is a description of the chromosomal makeup of an idividual

Answer 10

karyotype

Question 11

______ is a series of screening tests for fetal defects that is more accurate than just checking single biochemical marker

Answer 11

triple screen

Question 12

______ is a glycoprotein from fetal trophoblastic tissues that can be used to screen for fetal abnormalities

Answer 12

PAPP-A

Question 13

______ refers to any abnormal number of chromosomes

Answer 13

aneuploidy

Question 14

_____ chromosomal disorders require a pair of defective genes to be present for the abnormality to be manifested

Answer 14

autosomal recessive

Question 15

Chromosomal disorders are manifested when a single defective gene is present

Answer 15

autosomal dominant

Question 16

_____ disorders require the interaction of one or more abnormal genes and environmental factors for them to be manifested

Answer 16

multifactorial

Question 17

______ is the occurrence of a gene mutation or chromosomal abnormality in a portion of a person’s cells

Answer 17

mosaicism

Question 18

______ disorders are inherited by male fetuses from their mothers

Answer 18

x-linked

Question 19

_____ is an abnormal fluid collection in the posterior fetal neck seen in the late first trimester

Answer 19

nuchal translucency

Question 20

Trisomy _____ is also known as down syndrome

Answer 20

21

Question 21

______ is having three copies of a particular chromosome

Answer 21

trisomy

Question 22

Trisomy _____ is also know as edward’s syndrome

Answer 22

18

Question 23

Trisomy ______ is also known as patau’s syndrome

Answer 23

13

Question 24

______ is an abnormal curvature to the sole of the foot with prominent heels and supination of the foot, that is associated with trisomy 13

Answer 24

rocker-bottom foot

Question 25

Trisomy _____ is the most common chromosomal trisomy

Answer 25

21

Question 26

Trisomy _____ occurs in 1 of 10,000 live births

Answer 26

13

Question 27

_____ is a condition in which a fetus has three complete sets of chromosomes

Answer 27

triploidy

Question 28

_____ is an abnormality resulting from abnormal cleavage of the forebrain which features fused thalami, absent 3rd ventricle, and absence of the cavum septum pellucidum

Answer 28

holoprosencephaly

Question 29

_____ is another name for clubfoot

Answer 29

talipes

Question 30

____ refers to webbing of the fingers or toes

Answer 30

syndactyly

Question 31

_____ is an open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac

Answer 31

meningomyelocele

Question 32

______ is a genetic abnormality characterized by the absence of an X or Y chromosome (45X)

Answer 32

turner's syndrome

Question 33

Children with _____ generally are of normal intelligence

Answer 33

turner's syndrome

Question 34

Which of the following is most likely to have a fetus that survives beyond the first year

Answer 34

down's syndrome

Question 35

Which of the following is always lethal in its pure form

Answer 35

triploidy

Question 36

Most fetuses with turner's syndrome will

Answer 36

spontaneously abort

Question 37

Most fetuses with triploidy will

Answer 37

spontaneously abort in the 1st trimester

Question 38

Which of the following is generally characterized by cystic hydroma

Answer 38

Turner's syndrome

Question 39

Which of the following is more likely to survive the first year of life

Answer 39

trisomy 21

Question 40

Define phenotype

Answer 40

physical appearance of an individual

Question 41

Define simean crease

Answer 41

single palm crease, seen with trisomy 21

Question 42

Define cliniodactyly

Answer 42

inward curving of 5th finger

Question 43

What are the indications for an amniocentesis

Answer 43

advanced maternal age, history parent/previous child with chromosomal anomaly, abnormal AFP (high or low), abnormal triple/quad screen, anomaly detected on screening sonogram

Question 44

What anomalies are associated with Trisomy 21

Answer 44

thickened nuchal fold, epicanthal folds, flattened/absent nasal bridge, duodenal atresia, short femurs, small ears, protruding tongue, polly, pilat ages, decreased AFP, eif

Question 45

What anomalies are associated with Trisomy 18

Answer 45

dolicocephaly, microcephaly, choroid plexus cyst, micrognathia, cleft palate, clenched hands, club foot, rocker-bottom feet, IUGR, NIH, poly, single umbilical artery, cardiac anomalies

Question 46

What anomalies are associated with Trisomy 13

Answer 46

holoprosencephaly, agenesis of corpus collosum, hypothyroidism, proboscis, cyclops, cleft palate, micrognathia, club foot, microcephaly, single nostril

Question 47

Triploidy

Answer 47

VSD, omphalocele, holoprosencephaly, dandy walker malformation, micrognathia, cryptorchidism, ambiguous genitalia