Chapter 30- Chromosomal Abnormalities Flashcards
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
Amniocentesis
Inflammation of the amniotic sac secondary to infection
Amnionitis
A condition of having an abnormal number of chromosomes
Anueploidy
A structural feature that differs from the norm
Anomaly
Fiingerlike projections of gestational tissue that attach to the decidualized endometrium and allow transfer of nutrients from the mother to the fetus
Chorionic Villi
Prenatal test used that obtains placental tissue for chromosomal analysis
Chorionic Villi Sampling
Cysts located within the lateral ventricles of the brain, specifically in the choriod plexus
Choroid plexus cyst
An error in either the number or structure of chromosomes
Chromosomal Abnormalities
The cellular structures that contain genes
Chromosomes
The bending of the fifth finger toward the fourth finger
Clinodactyly
Prenatal test that obtains fetal blood for chromosomal analysis; also referred to as percutaneous umbilical cord sampling
Cordocentesis
Fusion of the orbits
Cyclopia
An analysis of fetal chromosomes; reveals the morphology and number of chromosomes
Fetal Karotyping
The increased volume of cerebrospinal fluid within the ventricular system
Hydrocephalus
Incomplete or arrested development of a structure
Hypoplastic
A structural abnormality that results from an abnormal development
Malformation
Small eyes
Microphtalmia
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
Molar pregnancy
The form and structure of an organism
Morphology
Fetal hydrops caused by congenital fetal anomalies and infections
Nonimmune hydros
The posterior part or name of the neck
Nuchal
A mass found in the neck that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue
Nuchal cystic hygroma
A collection of solid tissue at the back of the fetal neck
Nuchal fold
The anechoic space along the posterior aspect of the fetal neck
Nuchal translucency
Imperfect or abnormal development of the ovaries
Ovarian dysgenisis
A protein that is produced by the placenta and that can be monitored during pregnancy
Pregnancy associated Plasma Protein A
Abnormal curved shape of the sole of the feet
Rockerbottom feet
A large space between the first and second toes
Sandal gap
A birth defect in which there is incomplete closure of the spine
Spina BFida
The loss of a pregnancy before 20 gestational weeks
Spontaneous abortion
A buildup of fluid under the skin
Subcutaneous Edema
Webbed fingers or toes
Syndactyly
A group of clinically observable findings that exist together and allow for classification
Syndrome
A cell having three copies of an individual chromosome
Trisomy
Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau Syndrome; often associated with holoprosencephaly
Trisomy 13
Chromosomal aberration in which there is a third chromosome 18, also referred to as Edwards Syndrome
Trisomy 18
Chromosomal aberration in which there is a third chromosome 21; also referred to as Down Syndrome
Trisomy 21
The cells that surround the gestation that produce human chorionic gonadotropin
Trophoblastic Cells
A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Turner syndrome
A cell having the normal pair of each chromosome (46)
Diploid
A cell having only one member of each pair of chromosomes
Haploid
A cell having only one of an individual chromosome
Monosomy
A situation in which some cells have an abnormal number of chromosomes whereas others do not
Mosaic
A cell having three times the normal haploid number (69(
Triploid
the normal cell has ___ chromosomes or __ pair of ____
46
2 pairs of 23
a condition in which there are an abnormal number of whole chromosomes:
aneuploidy
an example of a specific type of aneuploid in which there is an additional copy of the chromosome 18:
Edwards syndrome
the three laboratory values that typically comprise the triple screen are maternal serum:
alpha-fetoprotein, estriol, and hCG
AFP is produced by:
Estriol and hCG is produced by:
yolk sac and fetal liver
placenta
the triple screen has a ____ detection rate
60%
the most common cause of abnormal serum screening test is:
incorrect dating of the pregnancy
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
advanced maternal age is considered to be ___ years of age or older
35
is an analysis of fetal chromosomes and is frequently recommended for women who are considered to be of advanced maternal age:
fetal karyotyping
during pregnancy, a sample of _________. __________ or _______ can be used for fetal karyotyping
maternal blood, amniotic fluid or tissue from the placenta
there are three main procedures used to obtain material for fetal karyotyping:
chorionic villi sampling (CVS)
amniocentesis
cordocentesis
with CVS, a small amount of _________ is obtained for chromosomal testing
chorionic villi
________ used for genetic testing by sampling the amniotic fluid, 15-20 weeks
amniocenteses
fetal blood sampling- performed 17 weeks transabdominally through the umbilical vein:
cordocentesis also known as percutaneous umbilical cord sampling (PUBS)
cordocentesis (PUBS) has been associated with:
fetal bradycardia and hemorrhage at the sampling site
(carries a higher fetal loss rate comparison to amniocentesis)
PUBS allows for rapid detection of ____________. 48-72 hours for analysis
chromosomal anomalies
the most common chromosomal abnormality that occurs in 1 in 500 to 800 pregnancies:
Down syndrome (trisomy 21)
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
maternal serum screening results of down syndrome:
- low MSAFP
- low estriol
- high hCG
- high inhibin A
- low PAPP-A
sonographic findings of down syndrome: (16)
- absent nasal bone (hypoplastic nose)
- brachycephaly- (shorter skull
- clinodactyly- (abnormal appearance of fingers)
- duodenal atresia
- echogenic intracardiac focus- (calcium in heart)
- hyperechoic bowel
- macroglossia- (large tongue)
- mild ventriculomegaly
- nonimmune hydrops
- nuchal thickening ≥ 6mm 15-21weeks
- thickened nuchal translucency
- pericardial effusion- (extra fluid in the space around heart)
- pyelectasis- (dilation of renal pelvis)
- shortened limbs
- ventricular septal defects (VSD)
- widened pelvic angles
the second most common chromosomal abnormality- majority of fetuses diagnosed die before birth or shortly after:
edwards syndrome (trisomy 18)
various sonographic features of edwards syndrome include: (7)
strawberry-shaped skull, choroid plexus cysts, micrognathia, rockerbottom feet, omphalocele, clenched fists, and single umbilical artery
maternal serum screening results of edwards syndrome: (5)
- low/high AFP
- low/high estriol
- low/high hCG
- low/high inhibin A
- low/high PAPP-A
sonographic findings of edwards syndrome: (18)
- strawberry shaped skull
- agenesis of the corpus callosum
- choroid plexus cyst
- hypoplastic cerebellum- (small cerebellum)
- enlarged cisterna magna
- hydrocephalus
- micrognathia- (small lower jaw)
- small, low-set ears
- esophageal atresia
- spina bifida
- clenched hands, overlapping index finger, fixed wrist
- cardiac defects- (VSD tetrology of fallot)
- omphalocele
- nonimmune hydrops
- diaphragmatic hernia
- renal anomalies
- single umbilical artery
- feet abnormalities (rockerbottom feet, clubfeet)
fatal condition, holoprosencephaly and abnormal facies are common findings with:
patio syndrome (trisomy 13)
various sonographic features of patau syndrome include: (5)
central nervous system aberrations, cyclopia, facial clefting, heart defects, and polydactyly
maternal serum screening results of patau syndrome: (1)
not always beneficial and depends upon the anomaly present
sonographic findings of patau syndrome: (14)
- mirocephaly
- polydactyly- (extra fingers/toes)
- holoprosencephaly- (failure of the forebrain to develop normally)
- ventriculomegaly
- hydrocephalus
- agenesis of corpus callosum
- small, low set ears
- facial anomalies (cyclopia, cleft lip, cleft palate, microphthalmia, hypotelorism)
- cardiac defects (hypoplastic left heart & echogenic intracardiac focus)
- omphalocele
- nonimmune hydrops
- renal anomalies (hydronephrosis, echogenic enlarged kidneys)
- single umbilical artery
- clubfeet
a chromosomal abnormality in which the fetus has 69 chromosomes instead of the normal 46:
triploidy
sonographic features of triploidy include:
(4)smal low-set ears, cardiac defects, syndactyly, and intrauterine growth restriction
maternal serum screening results of triploidy: (1)
elevated hcg in the presence of a molar pregnancy
first trimester sonographic findings of triploidy: (3)
- cystic spaced seen within an enlarged placenta (molar pregnancy)
- fetal demise
- bilateral ovarian theca lutein cysts
second and third trimester sonographic findings of triploidy: (13)
- holoprosencephaly- (failure of forebrain to develop normally)
- dandy-walker malformations
- agenesis of the corpus callosum
- hydrocephalus
- facial abnormalities (microphthalmia and micrognathia)
- small, low-set ears
- cardiac defects
- renal anomalies
- intrauterine growth restriction (small abdomen)
- omphalocele
- syndactyly- (webbed 3rd and 4th fingers)
- single umbilical artery
- clubfeet
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
a fetus with turner syndrome presents with a:
nuchal cystic hygroma and nonimmune hydrops
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
turner syndrome is an often fatal condition that leads to ________ in the first or second trimester
spontaneous abortion
common anomalies in people who survive turner syndrome:
ovarian dysgenesis, webbed neck, short stature, motor deficits, hearing loss, and renal anomalies
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
- low/high estriol
- low/high AFP
- low/high hCG (with hydrops)
- low/high inhibin (with hydrops)
- low/high PAPP-A
sonographic findings of turner syndrome: (5)
- increased nuchal translucency
- cystic hygroma
- renal anomalies (horseshoe kidneys & renal agenesis)
- cardiac defects (coarctation of the aorta)
- nonimmune hydrops
male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms, and gynecomastia:
klinefelter syndrome
normal diploid cells have:
a. 46 chromosomes
b. 23 chromosomes
c. 21 chromosomes
d. 69 chromosomes
a
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
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
another name for patau syndrome is:
a. trisomy 21
b. trisomy 16
c. trisomy 18
d. trisomy 13
`d
Rounded head shape is referred to as:
A. Dolichocephaly
B. Brachycephaly
C. Cebocephaly
D. Craniosynostosi
b
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
with which of the following syndromes is brachycephaly associated most often?
a. edwards syndrome
b. patau syndrome
c. down syndroms
d. turner syndrome
c
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
which of the following is a sex chromosome anomaly?
a. edwards syndrome
b. trisomy 13
c. down syndrome
d. 45,X
d
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
with what procedure is placental tissue obtained?
a. amniocentesis
b. cordocentesis
c. CVS
d. trophoblastic resection techniqu
c
The bending of the fifth digit toward the fourth digit is called:
A. Syndactyly
B. clinodactyly
C. polydactyly
D. Stabodactylyq
b
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
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
the earliest invasive fetal karyotyping technique that can be performed is ?
a) amniocentesis
b) cordocentesis
c) CVS
d) PUBS
C
A strawberry shaped skull is associated with ?
a) edwards
b) turners
c) downs
d) pataus
A
Cleft lip, hypoteleroism, and micropthalmia are all sonographic features of ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turner syndrome
B
Monosomy X refers to ?
a) edwards
b) pataus
c) downs
d) turners
D
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
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
The term small eyes is ?
a) micropthalmia
b) micrognathia
c) microcephaly
d) microglossia
A
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
Fusion of the orbits and holoprosencephaly are associated with ?
a) edwards syndrome
b) turner syndrome
c) down syndrome
d) patau syndrome
D
A structural abnormality that results from an abnormal development describes?
a) syndrome
b) chromosomal deviation
c) malformation
d) congenital misrepresentation
C
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 large space between the first and second toes is termed?
a) polydactyly
b) clubfoot
c) ulnaration
d) sandal gap
D
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
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by ?
a) trisomy 21
b) trisomy 13
c) trisomy 18
d) turners syndrome
D
What is macroglossia most often associated with ?
a) trisomy 21
b) trisomy 18
c) trisomy 13
d) triploidy
A
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
What is another name for the most common chromosomal abnormality?
a) edwards
b) triploidy
c) downs
d) turners
C
Widened pelvic angles and duodenal atresia are most consistent with the sono markers for ?
a) triploidy
b) patau
c) downs
d) edwards
C
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
Which protein is not produced by the developing placenta ?
a) AFP
b) hCG
c) estriol
d) PAPPA
A
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
Cyclopia would most likely be associated with ?
a) trisomy 8
b) trisomy 21
c) triomy 18
d) trisomy 13
D
Webbed fingers or toes are termed?
a) clinodactyly
b) syndactyly
c) polydactyly
d) whren syndrome
B
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
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
Echogenic small bowel is most often associated with ?
a) downs
b) edwards
c) pataus
d) turners
A
