Chapter 33: Patterns of Fetal Anomalies

Question 1

serum protein produced by the fetal yolk sac and liver that aids in the detection of neural tube defects, ventral wall defects, skin disorders, and in rare cases, nephrosis

Answer 1

AFP

Question 2

any substance measured in a laboratory such as AFP, inhibin A, or hCG

Answer 2

analyte

Question 3

abnormal number of chromosomes

Answer 3

aneuploidy

Question 4

normal number of chromosomes in a cell

Answer 4

haploid

Question 5

testing for maternal levels of AFP, unconjugated estriol, hCG, and inhibin A

Answer 5

quadruple screen

Question 6

hormone secreted by immature placenta

Answer 6

hCG

Question 7

protein secreted by the corpus luteum and placenta

Answer 7

inhibin A

Question 8

arrangement of chromosomes by type, size, and morphology to determine normalcy

Answer 8

karyotype

Question 9

presence of two different types of cell genotypes (karyotype) in an individual

Answer 9

mosaicism

Question 10

division of a cell resulting in the normal haploid number

Answer 10

mitosis

Question 11

division of a cell resulting in which there is a reduction, by half, in the normal haploid number of chromosomes

Answer 11

meiosis

Question 12

triad of hypertension, fluid retention (edema), and proteinuria occurring after 20 weeks’ gestation

Answer 12

preeclampsia

Question 13

placental syncytiotrophoblastic hormone found in the maternal bloodstream

Answer 13

PAPP-A

Question 14

involving several different factors

Answer 14

multifactorial

Question 15

testing for maternal levels of AFP, uE3, and hCG

Answer 15

triple screen

Question 16

hormone produced by the syncytiotrophoblast

Answer 16

unconjugated estriol

Question 17

A pattern of multiple anomalies seen in numerous individuals not related to a single causative factor or pathology is a(n):

Answer 17

association

Question 18

Structural abnormalities in the chromosomes are most often a result of breakage resulting from:

Answer 18

chemical agents

Question 19

The definition of a part of a chromosome rearranging within itself is:

Answer 19

inversion

Question 20

The transmission of the genetic code from parents to offspring is:

Answer 20

inheritance

Question 21

Cardiac defects, neural tube defects, and facial clefting are examples of:

Answer 21

multifactorial inheritance

Question 22

Increases in hCG and decreases in PAPP-A, along with increased nuchal translucency (NT) measurements, have been associated with:

Answer 22

Trisomy 21

Question 23

Second trimester biochemical screening should be performed between:

Answer 23

15 and 20 weeks

Question 24

Select the choice that is not associated with diagnosing aneuploidy.
a. chorionic villus sampling
b. qualitative hCG
c. amniocentesis
d. umbilical blood sampling

Answer 24

b

Question 25

The most apparent ultrasound finding with Alcardi syndrome is:

Answer 25

agenesis of the corpus callosum

Question 26

Entanglement of fetal structures or the obvious disruption of a fetal part by amniotic sheets is:

Answer 26

amniotic band sequence

Question 27

Trisomy 21, the most common pattern of malformation in man, results in intellectual disabilities, neonatal hypotonia, characteristic facial deformities, and frequently:

Answer 27

heart anomalies

Question 28

Trisomy 13 (Patau syndrome): a. is frequently related to advanced maternal age b. demonstrates no cranial anomalies c. includes a short umbilical cord d. involves the vertebrae with severe kyphoscoliosis

Answer 28

a

Question 29

An anomaly, either single or multiple, in which the structure or tissue is abnormal from the beginning, such as clefting of the lip is a(n):

Answer 29

malformation

Question 30

The five findings- macroglossia, anterior wall defects, hypoglycemia at birth, macrosomia, and hemihyperplasia- suggest a diagnosis of:

Answer 30

Beckwith-Wiedemann syndrome

Question 31

VACTERL syndrome: a. is a collection of fetal anomalies b. is best diagnosed with inhibin A c. is determined with amniocentesis d. requires multiple anomalies including hip dysplasia

Answer 31

a

Question 32

The characteristics of renal dysplasia, limb anomalies, and encephalocele describe the rare syndrome:

Answer 32

Meckel-Gruber syndrome

Question 33

Turner syndrome relates to: a. oligohydramnios owing to inadequate uring production b. the absence of a sex chromosome c. limb amputation d. hand anomalies

Answer 33

b

Question 34

An anomaly in which the structure of tissue lacks the normal organization of cells is a(n):

Answer 34

dysplasia

Question 35

A syndrome that is separated into two subgroups with one having craniofacial defects and one having a short cord, anal atresia, lumbosacral meningocele, and urogenital malformations is:

Answer 35

limb body wall complex

Question 36

A condition that provides no known lab values and is konwn as the cardiac-limb syndrome is:

Answer 36

Holt-Oram syndrome

Question 37

Turner syndrome is known as ______ and only affects the _____ gender.

Answer 37

monosomy X female

Question 38

Turner syndrome results from the absence of one of the two ____ chromosomes.

Answer 38

sex

Question 39

Trisomy 13 is also known as _____. Trisomy 21 is known as ______ and Trisomy 18 is known as ______.

Answer 39

Patau syndrome Down syndrome Edward syndrome

Question 40

Having one extra chromosome in a set or missing a chromosome from a set are examples of ______

Answer 40

aneuploidy

Question 41

In a trisomy 21 fetus, a first-trimester ultrasound examination often displays a missing _____ bone.

Answer 41

middle phalanx

Question 42

Two environmental teratogens that mimic genetic defects are ____ and ____

Answer 42

infection drugs

Question 43

A well-known and reliable screening test that evaluates the risk to the general population for aneuploidy is _____

Answer 43

prenatal screening

Question 44

______ is the main characteristic of Apert syndrome that results in changes of head and face shape

Answer 44

agenesis of the corpus callosum

Question 45

Trisomy 18 is also known as _____ and occurs mostly in the _____ gender.

Answer 45

Edward female

Question 46

Defects of the sacrum, lumbar vertebrae, and sacral agenesis are anomalies related to ______. Extreme temperature, x-rays, and lithium are known to induce this malformation.

Answer 46

caudal regression syndrome

Question 47

Also known as cardiac-limb syndrome, ______ is characterized by anomalies of the upper limbs and the heart.

Answer 47

Holt-Oram Syndrome

Question 48

The classic sonographic finding of Turner syndrome is a ______

Answer 48

cystic hygroma

Question 49

A fetus that demonstrates hypertelorism, downward slanting eyes, and posteriorly rotated and low-set ears, has _____ syndrome. The short stature, neck webbing, and cardiac anomalies compare to Turner syndrome.

Answer 49

Noonan

Question 50

The presence of a complete extra set of chromosomes is called _____

Answer 50

triploidy

Question 51

______ band sequence, or ______ band syndrome, begins with the rupture of the amnion and subsequently results in the entrapment of fetal parts.

Answer 51

amniotic; amniotic

Question 52

When a mother carries a gene that expresses itself in a male child, this is considered an ___ linked chromosome.

Answer 52

X

Question 53

A pattern of the anomalies colobomatous malformation, heart defects, atresia choanae, retardation (mental and growth deficiencies), genital hypoplasia, and ear anomalies equates to ______ syndrome.

Answer 53

CHARGE

Question 54

Cystic hygroma is common to Turner syndrome and Noonan syndrome; however, the identification of a _____ genitalia differentiates Noonan syndrome from Turner syndrome.

Answer 54

male

Question 55

Agenesis of the corpus callosum, dysgenesis of the corpus callosum, cortical malformations, brain asymmetry, microcephaly, choroid plexus cysts, porencephalic cysts, choroid plexus papilloma, Dandy-Walker malformation, and brain calcifications indicate _____ syndrome.

Answer 55

Aicardi

Question 56

Most triploidy pregnancies are owing to two ______ fertilizing one egg or from an extra chromosome set from the mother.

Answer 56

sperm