Chapter 30- Chromosomal Abnormalities Flashcards
(126 cards)
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
2
Q
Inflammation of the amniotic sac secondary to infection
A
Amnionitis
3
Q
A condition of having an abnormal number of chromosomes
A
Anueploidy
4
Q
A structural feature that differs from the norm
A
Anomaly
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
6
Q
Prenatal test used that obtains placental tissue for chromosomal analysis
A
Chorionic Villi Sampling
7
Q
Cysts located within the lateral ventricles of the brain, specifically in the choriod plexus
A
Choroid plexus cyst
8
Q
An error in either the number or structure of chromosomes
A
Chromosomal Abnormalities
9
Q
The cellular structures that contain genes
A
Chromosomes
10
Q
The bending of the fifth finger toward the fourth finger
A
Clinodactyly
11
Q
Prenatal test that obtains fetal blood for chromosomal analysis; also referred to as percutaneous umbilical cord sampling
A
Cordocentesis
12
Q
Fusion of the orbits
A
Cyclopia
13
Q
An analysis of fetal chromosomes; reveals the morphology and number of chromosomes
A
Fetal Karotyping
14
Q
The increased volume of cerebrospinal fluid within the ventricular system
A
Hydrocephalus
15
Q
Incomplete or arrested development of a structure
A
Hypoplastic
16
Q
A structural abnormality that results from an abnormal development
A
Malformation
17
Q
Small eyes
A
Microphtalmia
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
19
Q
The form and structure of an organism
A
Morphology
20
Q
Fetal hydrops caused by congenital fetal anomalies and infections
A
Nonimmune hydros
21
Q
The posterior part or name of the neck
A
Nuchal
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
23
Q
A collection of solid tissue at the back of the fetal neck
A
Nuchal fold
24
Q
The anechoic space along the posterior aspect of the fetal neck
A
Nuchal translucency
25
Imperfect or abnormal development of the ovaries
Ovarian dysgenisis
26
A protein that is produced by the placenta and that can be monitored during pregnancy
Pregnancy associated Plasma Protein A
27
Abnormal curved shape of the sole of the feet
Rockerbottom feet
28
A large space between the first and second toes
Sandal gap
29
A birth defect in which there is incomplete closure of the spine
Spina BFida
30
The loss of a pregnancy before 20 gestational weeks
Spontaneous abortion
31
A buildup of fluid under the skin
Subcutaneous Edema
32
Webbed fingers or toes
Syndactyly
33
A group of clinically observable findings that exist together and allow for classification
Syndrome
34
A cell having three copies of an individual chromosome
Trisomy
35
Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau Syndrome; often associated with holoprosencephaly
Trisomy 13
36
Chromosomal aberration in which there is a third chromosome 18, also referred to as Edwards Syndrome
Trisomy 18
37
Chromosomal aberration in which there is a third chromosome 21; also referred to as Down Syndrome
Trisomy 21
38
The cells that surround the gestation that produce human chorionic gonadotropin
Trophoblastic Cells
39
A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Turner syndrome
40
A cell having the normal pair of each chromosome (46)
Diploid
41
A cell having only one member of each pair of chromosomes
Haploid
42
A cell having only one of an individual chromosome
Monosomy
43
A situation in which some cells have an abnormal number of chromosomes whereas others do not
Mosaic
44
A cell having three times the normal haploid number (69(
Triploid
45
the normal cell has ___ chromosomes or __ pair of ____
46
2 pairs of 23
46
a condition in which there are an abnormal number of whole chromosomes:
aneuploidy
47
an example of a specific type of aneuploid in which there is an additional copy of the chromosome 18:
Edwards syndrome
48
the three laboratory values that typically comprise the triple screen are maternal serum:
alpha-fetoprotein, estriol, and hCG
49
AFP is produced by:
Estriol and hCG is produced by:
yolk sac and fetal liver
placenta
50
the triple screen has a ____ detection rate
60%
51
the most common cause of abnormal serum screening test is:
incorrect dating of the pregnancy
52
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:
materniT 21Plus
53
advanced maternal age is considered to be ___ years of age or older
35
54
is an analysis of fetal chromosomes and is frequently recommended for women who are considered to be of advanced maternal age:
fetal karyotyping
55
during pregnancy, a sample of _________. __________ or _______ can be used for fetal karyotyping
maternal blood, amniotic fluid or tissue from the placenta
56
there are three main procedures used to obtain material for fetal karyotyping:
chorionic villi sampling (CVS)
amniocentesis
cordocentesis
57
with CVS, a small amount of _________ is obtained for chromosomal testing
chorionic villi
58
________ used for genetic testing by sampling the amniotic fluid, 15-20 weeks
amniocenteses
59
fetal blood sampling- performed 17 weeks transabdominally through the umbilical vein:
cordocentesis also known as percutaneous umbilical cord sampling (PUBS)
60
cordocentesis (PUBS) has been associated with:
fetal bradycardia and hemorrhage at the sampling site
(carries a higher fetal loss rate comparison to amniocentesis)
61
PUBS allows for rapid detection of ____________. 48-72 hours for analysis
chromosomal anomalies
62
the most common chromosomal abnormality that occurs in 1 in 500 to 800 pregnancies:
Down syndrome (trisomy 21)
63
various sonographic features of down syndrome include:
duodenal atresia, thickened nuchal translucency in the first trimester
increased nuchal fold thickened, pyelectasis, and absent nasal bones in the second trimester
64
maternal serum screening results of down syndrome:
1. low MSAFP
2. low estriol
3. high hCG
4. high inhibin A
5. low PAPP-A
65
sonographic findings of down syndrome: (16)
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
the second most common chromosomal abnormality- majority of fetuses diagnosed die before birth or shortly after:
edwards syndrome (trisomy 18)
67
various sonographic features of edwards syndrome include: (7)
strawberry-shaped skull, choroid plexus cysts, micrognathia, rockerbottom feet, omphalocele, clenched fists, and single umbilical artery
68
maternal serum screening results of edwards syndrome: (5)
1. low/high AFP
2. low/high estriol
3. low/high hCG
4. low/high inhibin A
5. low/high PAPP-A
69
sonographic findings of edwards syndrome: (18)
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
fatal condition, holoprosencephaly and abnormal facies are common findings with:
patio syndrome (trisomy 13)
71
various sonographic features of patau syndrome include: (5)
central nervous system aberrations, cyclopia, facial clefting, heart defects, and polydactyly
72
maternal serum screening results of patau syndrome: (1)
not always beneficial and depends upon the anomaly present
73
sonographic findings of patau syndrome: (14)
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
a chromosomal abnormality in which the fetus has 69 chromosomes instead of the normal 46:
triploidy
75
sonographic features of triploidy include:
(4)smal low-set ears, cardiac defects, syndactyly, and intrauterine growth restriction
76
maternal serum screening results of triploidy: (1)
elevated hcg in the presence of a molar pregnancy
77
first trimester sonographic findings of triploidy: (3)
1. cystic spaced seen within an enlarged placenta (molar pregnancy)
2. fetal demise
3. bilateral ovarian theca lutein cysts
78
second and third trimester sonographic findings of triploidy: (13)
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
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:
Turner syndrome
80
a fetus with turner syndrome presents with a:
nuchal cystic hygroma and nonimmune hydrops
81
nonimmune hydrops is the buildup of fluid within two fetal body cavities. therefore, ____, _________, ________, and ________ are all common findings with turner syndrome
ascites, pleural effusion, pericardial effusion, and subcutaneous edema
82
turner syndrome is an often fatal condition that leads to ________ in the first or second trimester
spontaneous abortion
83
common anomalies in people who survive turner syndrome:
ovarian dysgenesis, webbed neck, short stature, motor deficits, hearing loss, and renal anomalies
84
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
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
sonographic findings of turner syndrome: (5)
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
male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms, and gynecomastia:
klinefelter syndrome
87
normal diploid cells have:
a. 46 chromosomes
b. 23 chromosomes
c. 21 chromosomes
d. 69 chromosomes
a
88
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
d
89
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
90
another name for patau syndrome is:
a. trisomy 21
b. trisomy 16
c. trisomy 18
d. trisomy 13
`d
91
Rounded head shape is referred to as:
A. Dolichocephaly
B. Brachycephaly
C. Cebocephaly
D. Craniosynostosi
b
92
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
c
93
with which of the following syndromes is brachycephaly associated most often?
a. edwards syndrome
b. patau syndrome
c. down syndroms
d. turner syndrome
c
94
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
c
95
which of the following is a sex chromosome anomaly?
a. edwards syndrome
b. trisomy 13
c. down syndrome
d. 45,X
d
96
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
d
97
with what procedure is placental tissue obtained?
a. amniocentesis
b. cordocentesis
c. CVS
d. trophoblastic resection techniqu
c
98
The bending of the fifth digit toward the fourth digit is called:
A. Syndactyly
B. clinodactyly
C. polydactyly
D. Stabodactylyq
b
99
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
d
100
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
101
the earliest invasive fetal karyotyping technique that can be performed is ?
a) amniocentesis
b) cordocentesis
c) CVS
d) PUBS
C
102
A strawberry shaped skull is associated with ?
a) edwards
b) turners
c) downs
d) pataus
A
103
Cleft lip, hypoteleroism, and micropthalmia are all sonographic features of ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turner syndrome
B
104
Monosomy X refers to ?
a) edwards
b) pataus
c) downs
d) turners
D
105
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
C
106
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
107
The term small eyes is ?
a) micropthalmia
b) micrognathia
c) microcephaly
d) microglossia
A
108
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
D
109
Fusion of the orbits and holoprosencephaly are associated with ?
a) edwards syndrome
b) turner syndrome
c) down syndrome
d) patau syndrome
D
110
A structural abnormality that results from an abnormal development describes?
a) syndrome
b) chromosomal deviation
c) malformation
d) congenital misrepresentation
C
111
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
112
A large space between the first and second toes is termed?
a) polydactyly
b) clubfoot
c) ulnaration
d) sandal gap
D
113
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
C
114
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turners syndrome
D
115
What is macroglossia most often associated with ?
a) trisomy 21
b) trisomy 18
c) trisomy 13
d) triploidy
A
116
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
C
117
What is another name for the most common chromosomal abnormality?
a) edwards
b) triploidy
c) downs
d) turners
C
118
Widened pelvic angles and duodenal atresia are most consistent with the sono markers for ?
a) triploidy
b) patau
c) downs
d) edwards
C
119
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
D
120
Which protein is not produced by the developing placenta ?
a) AFP
b) hCG
c) estriol
d) PAPPA
A
121
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
122
Cyclopia would most likely be associated with ?
a) trisomy 8
b) trisomy 21
c) triomy 18
d) trisomy 13
D
123
Webbed fingers or toes are termed?
a) clinodactyly
b) syndactyly
c) polydactyly
d) whren syndrome
B
124
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
C
125
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
126
Echogenic small bowel is most often associated with ?
a) downs
b) edwards
c) pataus
d) turners
A
