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OB 2 > Chapter 33: Patterns of Fetal Anomalies > Flashcards

Chapter 33: Patterns of Fetal Anomalies Flashcards

1
Q

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

A

AFP

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2
Q

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

A

analyte

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3
Q

abnormal number of chromosomes

A

aneuploidy

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4
Q

normal number of chromosomes in a cell

A

haploid

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5
Q

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

A

quadruple screen

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6
Q

hormone secreted by immature placenta

A

hCG

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7
Q

protein secreted by the corpus luteum and placenta

A

inhibin A

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8
Q

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

A

karyotype

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9
Q

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

A

mosaicism

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10
Q

division of a cell resulting in the normal haploid number

A

mitosis

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11
Q

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

A

meiosis

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12
Q

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

A

preeclampsia

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13
Q

placental syncytiotrophoblastic hormone found in the maternal bloodstream

A

PAPP-A

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14
Q

involving several different factors

A

multifactorial

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15
Q

testing for maternal levels of AFP, uE3, and hCG

A

triple screen

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16
Q

hormone produced by the syncytiotrophoblast

A

unconjugated estriol

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17
Q

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

A

association

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18
Q

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

A

chemical agents

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19
Q

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

A

inversion

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20
Q

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

A

inheritance

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21
Q

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

A

multifactorial inheritance

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22
Q

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

A

Trisomy 21

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23
Q

Second trimester biochemical screening should be performed between:

A

15 and 20 weeks

24
Q

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

A

b

25
Q

The most apparent ultrasound finding with Alcardi syndrome is:

A

agenesis of the corpus callosum

26
Q

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

A

amniotic band sequence

27
Q

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

A

heart anomalies

28
Q

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

A

a

29
Q

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):

A

malformation

30
Q

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

A

Beckwith-Wiedemann syndrome

31
Q

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

A

a

32
Q

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

A

Meckel-Gruber syndrome

33
Q

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

A

b

34
Q

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

A

dysplasia

35
Q

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:

A

limb body wall complex

36
Q

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

A

Holt-Oram syndrome

37
Q

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

A

monosomy X
female

38
Q

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

A

sex

39
Q

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

A

Patau syndrome
Down syndrome
Edward syndrome

40
Q

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

A

aneuploidy

41
Q

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

A

middle phalanx

42
Q

Two environmental teratogens that mimic genetic defects are ____ and ____

A

infection
drugs

43
Q

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

A

prenatal screening

44
Q

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

A

agenesis of the corpus callosum

45
Q

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

A

Edward
female

46
Q

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.

A

caudal regression syndrome

47
Q

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

A

Holt-Oram Syndrome

48
Q

The classic sonographic finding of Turner syndrome is a ______

A

cystic hygroma

49
Q

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.

A

Noonan

50
Q

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

A

triploidy

51
Q

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

A

amniotic; amniotic

52
Q

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

A

X

53
Q

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

A

CHARGE

54
Q

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

A

male

55
Q

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.

A

Aicardi

56
Q

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

A

sperm

57
Q
A

OB 2 (17 decks)

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