Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Penny - OB CH > Chapter 30- Chromosomal Abnormalities > Flashcards

Chapter 30- Chromosomal Abnormalities Flashcards

1
Q

A surgical procedure in which amniotic fluid is extracted for genetic testing or removed when there is an accumulation of an excessive amount of fluid around the fetus

A

Amniocentesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Inflammation of the amniotic sac secondary to infection

A

Amnionitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

A condition of having an abnormal number of chromosomes

A

Anueploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

A structural feature that differs from the norm

A

Anomaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Fiingerlike projections of gestational tissue that attach to the decidualized endometrium and allow transfer of nutrients from the mother to the fetus

A

Chorionic Villi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Prenatal test used that obtains placental tissue for chromosomal analysis

A

Chorionic Villi Sampling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Cysts located within the lateral ventricles of the brain, specifically in the choriod plexus

A

Choroid plexus cyst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

An error in either the number or structure of chromosomes

A

Chromosomal Abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

The cellular structures that contain genes

A

Chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

The bending of the fifth finger toward the fourth finger

A

Clinodactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Prenatal test that obtains fetal blood for chromosomal analysis; also referred to as percutaneous umbilical cord sampling

A

Cordocentesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Fusion of the orbits

A

Cyclopia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

An analysis of fetal chromosomes; reveals the morphology and number of chromosomes

A

Fetal Karotyping

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The increased volume of cerebrospinal fluid within the ventricular system

A

Hydrocephalus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Incomplete or arrested development of a structure

A

Hypoplastic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

A structural abnormality that results from an abnormal development

A

Malformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Small eyes

A

Microphtalmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Also referred to as gestational trophoblastic disease; associated with an abnormal proliferation of the trophoblastic cells, enlargement of the placenta, and elevated levels of human chorionic gonadotropin

A

Molar pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

The form and structure of an organism

A

Morphology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Fetal hydrops caused by congenital fetal anomalies and infections

A

Nonimmune hydros

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

The posterior part or name of the neck

A

Nuchal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

A mass found in the neck that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue

A

Nuchal cystic hygroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

A collection of solid tissue at the back of the fetal neck

A

Nuchal fold

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

The anechoic space along the posterior aspect of the fetal neck

A

Nuchal translucency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Imperfect or abnormal development of the ovaries

A

Ovarian dysgenisis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

A protein that is produced by the placenta and that can be monitored during pregnancy

A

Pregnancy associated Plasma Protein A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Abnormal curved shape of the sole of the feet

A

Rockerbottom feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

A large space between the first and second toes

A

Sandal gap

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

A birth defect in which there is incomplete closure of the spine

A

Spina BFida

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

The loss of a pregnancy before 20 gestational weeks

A

Spontaneous abortion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

A buildup of fluid under the skin

A

Subcutaneous Edema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Webbed fingers or toes

A

Syndactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

A group of clinically observable findings that exist together and allow for classification

A

Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

A cell having three copies of an individual chromosome

A

Trisomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau Syndrome; often associated with holoprosencephaly

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Chromosomal aberration in which there is a third chromosome 18, also referred to as Edwards Syndrome

A

Trisomy 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Chromosomal aberration in which there is a third chromosome 21; also referred to as Down Syndrome

A

Trisomy 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

The cells that surround the gestation that produce human chorionic gonadotropin

A

Trophoblastic Cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X

A

Turner syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

A cell having the normal pair of each chromosome (46)

A

Diploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

A cell having only one member of each pair of chromosomes

A

Haploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

A cell having only one of an individual chromosome

A

Monosomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

A situation in which some cells have an abnormal number of chromosomes whereas others do not

A

Mosaic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

A cell having three times the normal haploid number (69(

A

Triploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

the normal cell has ___ chromosomes or __ pair of ____

A

46
2 pairs of 23

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

a condition in which there are an abnormal number of whole chromosomes:

A

aneuploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

an example of a specific type of aneuploid in which there is an additional copy of the chromosome 18:

A

Edwards syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

the three laboratory values that typically comprise the triple screen are maternal serum:

A

alpha-fetoprotein, estriol, and hCG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

AFP is produced by:
Estriol and hCG is produced by:

A

yolk sac and fetal liver
placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

the triple screen has a ____ detection rate

A

60%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

the most common cause of abnormal serum screening test is:

A

incorrect dating of the pregnancy

52
Q

this blood test can reveal gender and also detect chromosomal anomalies; trisomies 21, 18, and 13 and sex chromosome abnormalities as early as 9 weeks:

A

materniT 21Plus

53
Q

advanced maternal age is considered to be ___ years of age or older

A

35

54
Q

is an analysis of fetal chromosomes and is frequently recommended for women who are considered to be of advanced maternal age:

A

fetal karyotyping

55
Q

during pregnancy, a sample of _________. __________ or _______ can be used for fetal karyotyping

A

maternal blood, amniotic fluid or tissue from the placenta

56
Q

there are three main procedures used to obtain material for fetal karyotyping:

A

chorionic villi sampling (CVS)
amniocentesis
cordocentesis

57
Q

with CVS, a small amount of _________ is obtained for chromosomal testing

A

chorionic villi

58
Q

________ used for genetic testing by sampling the amniotic fluid, 15-20 weeks

A

amniocenteses

59
Q

fetal blood sampling- performed 17 weeks transabdominally through the umbilical vein:

A

cordocentesis also known as percutaneous umbilical cord sampling (PUBS)

60
Q

cordocentesis (PUBS) has been associated with:

A

fetal bradycardia and hemorrhage at the sampling site
(carries a higher fetal loss rate comparison to amniocentesis)

61
Q

PUBS allows for rapid detection of ____________. 48-72 hours for analysis

A

chromosomal anomalies

62
Q

the most common chromosomal abnormality that occurs in 1 in 500 to 800 pregnancies:

A

Down syndrome (trisomy 21)

63
Q

various sonographic features of down syndrome include:

A

duodenal atresia, thickened nuchal translucency in the first trimester

increased nuchal fold thickened, pyelectasis, and absent nasal bones in the second trimester

64
Q

maternal serum screening results of down syndrome:

A
  1. low MSAFP
  2. low estriol
  3. high hCG
  4. high inhibin A
  5. low PAPP-A
65
Q

sonographic findings of down syndrome: (16)

A
  1. absent nasal bone (hypoplastic nose)
  2. brachycephaly- (shorter skull
  3. clinodactyly- (abnormal appearance of fingers)
  4. duodenal atresia
  5. echogenic intracardiac focus- (calcium in heart)
  6. hyperechoic bowel
  7. macroglossia- (large tongue)
  8. mild ventriculomegaly
  9. nonimmune hydrops
  10. nuchal thickening ≥ 6mm 15-21weeks
  11. thickened nuchal translucency
  12. pericardial effusion- (extra fluid in the space around heart)
  13. pyelectasis- (dilation of renal pelvis)
  14. shortened limbs
  15. ventricular septal defects (VSD)
  16. widened pelvic angles
66
Q

the second most common chromosomal abnormality- majority of fetuses diagnosed die before birth or shortly after:

A

edwards syndrome (trisomy 18)

67
Q

various sonographic features of edwards syndrome include: (7)

A

strawberry-shaped skull, choroid plexus cysts, micrognathia, rockerbottom feet, omphalocele, clenched fists, and single umbilical artery

68
Q

maternal serum screening results of edwards syndrome: (5)

A
  1. low/high AFP
  2. low/high estriol
  3. low/high hCG
  4. low/high inhibin A
  5. low/high PAPP-A
69
Q

sonographic findings of edwards syndrome: (18)

A
  1. strawberry shaped skull
  2. agenesis of the corpus callosum
  3. choroid plexus cyst
  4. hypoplastic cerebellum- (small cerebellum)
  5. enlarged cisterna magna
  6. hydrocephalus
  7. micrognathia- (small lower jaw)
  8. small, low-set ears
  9. esophageal atresia
  10. spina bifida
  11. clenched hands, overlapping index finger, fixed wrist
  12. cardiac defects- (VSD tetrology of fallot)
  13. omphalocele
  14. nonimmune hydrops
  15. diaphragmatic hernia
  16. renal anomalies
  17. single umbilical artery
  18. feet abnormalities (rockerbottom feet, clubfeet)
70
Q

fatal condition, holoprosencephaly and abnormal facies are common findings with:

A

patio syndrome (trisomy 13)

71
Q

various sonographic features of patau syndrome include: (5)

A

central nervous system aberrations, cyclopia, facial clefting, heart defects, and polydactyly

72
Q

maternal serum screening results of patau syndrome: (1)

A

not always beneficial and depends upon the anomaly present

73
Q

sonographic findings of patau syndrome: (14)

A
  1. mirocephaly
  2. polydactyly- (extra fingers/toes)
  3. holoprosencephaly- (failure of the forebrain to develop normally)
  4. ventriculomegaly
  5. hydrocephalus
  6. agenesis of corpus callosum
  7. small, low set ears
  8. facial anomalies (cyclopia, cleft lip, cleft palate, microphthalmia, hypotelorism)
  9. cardiac defects (hypoplastic left heart & echogenic intracardiac focus)
  10. omphalocele
  11. nonimmune hydrops
  12. renal anomalies (hydronephrosis, echogenic enlarged kidneys)
  13. single umbilical artery
  14. clubfeet
74
Q

a chromosomal abnormality in which the fetus has 69 chromosomes instead of the normal 46:

A

triploidy

75
Q

sonographic features of triploidy include:

A

(4)smal low-set ears, cardiac defects, syndactyly, and intrauterine growth restriction

76
Q

maternal serum screening results of triploidy: (1)

A

elevated hcg in the presence of a molar pregnancy

77
Q

first trimester sonographic findings of triploidy: (3)

A
  1. cystic spaced seen within an enlarged placenta (molar pregnancy)
  2. fetal demise
  3. bilateral ovarian theca lutein cysts
78
Q

second and third trimester sonographic findings of triploidy: (13)

A
  1. holoprosencephaly- (failure of forebrain to develop normally)
  2. dandy-walker malformations
  3. agenesis of the corpus callosum
  4. hydrocephalus
  5. facial abnormalities (microphthalmia and micrognathia)
  6. small, low-set ears
  7. cardiac defects
  8. renal anomalies
  9. intrauterine growth restriction (small abdomen)
  10. omphalocele
  11. syndactyly- (webbed 3rd and 4th fingers)
  12. single umbilical artery
  13. clubfeet
79
Q

a disorder found in females that may also referred to as 45,X or monosomy X because most often the paternal sex chromosome is missing:

A

Turner syndrome

80
Q

a fetus with turner syndrome presents with a:

A

nuchal cystic hygroma and nonimmune hydrops

81
Q

nonimmune hydrops is the buildup of fluid within two fetal body cavities. therefore, ____, _________, ________, and ________ are all common findings with turner syndrome

A

ascites, pleural effusion, pericardial effusion, and subcutaneous edema

82
Q

turner syndrome is an often fatal condition that leads to ________ in the first or second trimester

A

spontaneous abortion

83
Q

common anomalies in people who survive turner syndrome:

A

ovarian dysgenesis, webbed neck, short stature, motor deficits, hearing loss, and renal anomalies

84
Q

maternal serum screening results of turner syndrome:
1. low/high estriol
2. low/high AFP
3. low/high hCG (with hydrops)
4. low/high inhibin (with hydrops)
5. low/high PAPP-A

A
  1. low/high estriol
  2. low/high AFP
  3. low/high hCG (with hydrops)
  4. low/high inhibin (with hydrops)
  5. low/high PAPP-A
85
Q

sonographic findings of turner syndrome: (5)

A
  1. increased nuchal translucency
  2. cystic hygroma
  3. renal anomalies (horseshoe kidneys & renal agenesis)
  4. cardiac defects (coarctation of the aorta)
  5. nonimmune hydrops
86
Q

male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms, and gynecomastia:

A

klinefelter syndrome

87
Q

normal diploid cells have:
a. 46 chromosomes
b. 23 chromosomes
c. 21 chromosomes
d. 69 chromosomes

A

a

88
Q

a 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. these laboratory findings are most consistent with:
a. edwards syndrome
b. patau syndrome
c. triploidy
d. down syndrome

A

d

89
Q

the triple screen typically includes:
a. alpha-fetoprotein, estriol, and hCG
b. alpha-fetoprotein, amniotic fluid index, and hCG
c. alpha-fetoprotein, estriol, and PAPP-A
d. PAPP-A, inhibin A, and hCG

A

a

90
Q

another name for patau syndrome is:
a. trisomy 21
b. trisomy 16
c. trisomy 18
d. trisomy 13

A

`d

91
Q

Rounded head shape is referred to as:
A. Dolichocephaly
B. Brachycephaly
C. Cebocephaly
D. Craniosynostosi

A

b

92
Q

theca lutein cyst would most likely be linked with a molar pregnancy and:
a. down syndrome
b. intrauterine growth restriction
c. triploidy
d. monosomy X

A

c

93
Q

with which of the following syndromes is brachycephaly associated most often?
a. edwards syndrome
b. patau syndrome
c. down syndroms
d. turner syndrome

A

c

94
Q

advanced maternal age is considered to be:
a. > 25 years of ahe
b. > 30 years of age
c. > 35 years of age
d. > 32 years of age

A

c

95
Q

which of the following is a sex chromosome anomaly?
a. edwards syndrome
b. trisomy 13
c. down syndrome
d. 45,X

A

d

96
Q

a molar pregnancy, omphalocele, and a small, low set ears are found most often with:
a. trisomy 21
b. trisomy 18
c. trisomy 13
d. triploidy

A

d

97
Q

with what procedure is placental tissue obtained?
a. amniocentesis
b. cordocentesis
c. CVS
d. trophoblastic resection techniqu

A

c

98
Q

The bending of the fifth digit toward the fourth digit is called:
A. Syndactyly
B. clinodactyly
C. polydactyly
D. Stabodactylyq

A

b

99
Q

webbing of the neck and short stature is found in infertile female patients with a history of:
a. trisomy 21
b. triploidy
c. trisomy 13
d. turner syndrome

A

d

100
Q

pelvocalicectasis refers to:
a. dilation of the renal pelvis and calices
b. enlargement of the fetal pelvis
c. ectopic location of the kidney within the pelvis
d. dilation of the ureter within the pelvis

A

a

101
Q

the earliest invasive fetal karyotyping technique that can be performed is ?
a) amniocentesis
b) cordocentesis
c) CVS
d) PUBS

A

C

102
Q

A strawberry shaped skull is associated with ?
a) edwards
b) turners
c) downs
d) pataus

A

A

103
Q

Cleft lip, hypoteleroism, and micropthalmia are all sonographic features of ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turner syndrome

A

B

104
Q

Monosomy X refers to ?
a) edwards
b) pataus
c) downs
d) turners

A

D

105
Q

What are the finger like projections of gestational tissue that attach to the decidualized endometrium?
a) decidua capsularis
b) decidua vera
c) chorionic villi
d) placental substance

A

C

106
Q

A 22 week fetus with clinodactyly an echogenic intracardiac focus and hyperechoic bowel is noted during a screening obstetrical sonogram. These findings are most consistent with ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) monosomy X

A

A

107
Q

The term small eyes is ?
a) micropthalmia
b) micrognathia
c) microcephaly
d) microglossia

A

A

108
Q

The maternal serum screening of a mother with a fetus with trisomy 18 will reveal ?
a) decreased hCG, elevated afp, and normal estriol
b) increased hCG, AFP and estriol
c) increased AFP, increased hCG, and decreased estriol
d) decreased hCG AFP aND estriol

A

D

109
Q

Fusion of the orbits and holoprosencephaly are associated with ?
a) edwards syndrome
b) turner syndrome
c) down syndrome
d) patau syndrome

A

D

110
Q

A structural abnormality that results from an abnormal development describes?
a) syndrome
b) chromosomal deviation
c) malformation
d) congenital misrepresentation

A

C

111
Q

Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for ?
a) trisomy 21
b) trisomy 13
c) triploidy
d) trisomy 18

A

A

112
Q

A large space between the first and second toes is termed?
a) polydactyly
b) clubfoot
c) ulnaration
d) sandal gap

A

D

113
Q

Bilateral choroid plexus cyst micrognathai and rocker bottom feet are sono finds of a 27 week fetus with an omphalocele, these findings are most consistent with ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) triploidy

A

C

114
Q

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turners syndrome

A

D

115
Q

What is macroglossia most often associated with ?
a) trisomy 21
b) trisomy 18
c) trisomy 13
d) triploidy

A

A

116
Q

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and IUGR most likely has?
a) trisomy 21
b) trisomy 18
c) triploidy
d) turner syndrome

A

C

117
Q

What is another name for the most common chromosomal abnormality?
a) edwards
b) triploidy
c) downs
d) turners

A

C

118
Q

Widened pelvic angles and duodenal atresia are most consistent with the sono markers for ?
a) triploidy
b) patau
c) downs
d) edwards

A

C

119
Q

Sonograhically you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely ?
a) trisomy 8
b) trisomy 21
c) trisomy 18
d) trisomy 13

A

D

120
Q

Which protein is not produced by the developing placenta ?
a) AFP
b) hCG
c) estriol
d) PAPPA

A

A

121
Q

Which of the following lab findings would not be consistent with trisomy 21?
a) high AFP
b) low estriol
c) high hCG
d) low PAPPA

A

A

122
Q

Cyclopia would most likely be associated with ?
a) trisomy 8
b) trisomy 21
c) triomy 18
d) trisomy 13

A

D

123
Q

Webbed fingers or toes are termed?
a) clinodactyly
b) syndactyly
c) polydactyly
d) whren syndrome

A

B

124
Q

Which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males?
a) downs
b) edwards
c) klinefelters
d) turners

A

C

125
Q

Which of the following is not consistent with the diagnosis of nonimmune hydrops?
a) hypoplastic mandible
b) pleural effusion
c) ascites
d) subcutaneous edema

A

A

126
Q

Echogenic small bowel is most often associated with ?
a) downs
b) edwards
c) pataus
d) turners

A

A

Penny - OB CH (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions