Chapter 33: Patterns of Fetal Anomalies Flashcards
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
AFP
any substance measured in a laboratory such as AFP, inhibin A, or hCG
analyte
abnormal number of chromosomes
aneuploidy
normal number of chromosomes in a cell
haploid
testing for maternal levels of AFP, unconjugated estriol, hCG, and inhibin A
quadruple screen
hormone secreted by immature placenta
hCG
protein secreted by the corpus luteum and placenta
inhibin A
arrangement of chromosomes by type, size, and morphology to determine normalcy
karyotype
presence of two different types of cell genotypes (karyotype) in an individual
mosaicism
division of a cell resulting in the normal haploid number
mitosis
division of a cell resulting in which there is a reduction, by half, in the normal haploid number of chromosomes
meiosis
triad of hypertension, fluid retention (edema), and proteinuria occurring after 20 weeks’ gestation
preeclampsia
placental syncytiotrophoblastic hormone found in the maternal bloodstream
PAPP-A
involving several different factors
multifactorial
testing for maternal levels of AFP, uE3, and hCG
triple screen
hormone produced by the syncytiotrophoblast
unconjugated estriol
A pattern of multiple anomalies seen in numerous individuals not related to a single causative factor or pathology is a(n):
association
Structural abnormalities in the chromosomes are most often a result of breakage resulting from:
chemical agents
The definition of a part of a chromosome rearranging within itself is:
inversion
The transmission of the genetic code from parents to offspring is:
inheritance
Cardiac defects, neural tube defects, and facial clefting are examples of:
multifactorial inheritance
Increases in hCG and decreases in PAPP-A, along with increased nuchal translucency (NT) measurements, have been associated with:
Trisomy 21
Second trimester biochemical screening should be performed between:
15 and 20 weeks
Select the choice that is not associated with diagnosing aneuploidy.
a. chorionic villus sampling
b. qualitative hCG
c. amniocentesis
d. umbilical blood sampling
b
The most apparent ultrasound finding with Alcardi syndrome is:
agenesis of the corpus callosum
Entanglement of fetal structures or the obvious disruption of a fetal part by amniotic sheets is:
amniotic band sequence
Trisomy 21, the most common pattern of malformation in man, results in intellectual disabilities, neonatal hypotonia, characteristic facial deformities, and frequently:
heart anomalies
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
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):
malformation
The five findings- macroglossia, anterior wall defects, hypoglycemia at birth, macrosomia, and hemihyperplasia- suggest a diagnosis of:
Beckwith-Wiedemann syndrome
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
The characteristics of renal dysplasia, limb anomalies, and encephalocele describe the rare syndrome:
Meckel-Gruber syndrome
Turner syndrome relates to:
a. oligohydramnios owing to inadequate uring production
b. the absence of a sex chromosome
c. limb amputation
d. hand anomalies
b
An anomaly in which the structure of tissue lacks the normal organization of cells is a(n):
dysplasia
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:
limb body wall complex
A condition that provides no known lab values and is konwn as the cardiac-limb syndrome is:
Holt-Oram syndrome
Turner syndrome is known as ______ and only affects the _____ gender.
monosomy X
female
Turner syndrome results from the absence of one of the two ____ chromosomes.
sex
Trisomy 13 is also known as _____. Trisomy 21 is known as ______ and Trisomy 18 is known as ______.
Patau syndrome
Down syndrome
Edward syndrome
Having one extra chromosome in a set or missing a chromosome from a set are examples of ______
aneuploidy
In a trisomy 21 fetus, a first-trimester ultrasound examination often displays a missing _____ bone.
middle phalanx
Two environmental teratogens that mimic genetic defects are ____ and ____
infection
drugs
A well-known and reliable screening test that evaluates the risk to the general population for aneuploidy is _____
prenatal screening
______ is the main characteristic of Apert syndrome that results in changes of head and face shape
agenesis of the corpus callosum
Trisomy 18 is also known as _____ and occurs mostly in the _____ gender.
Edward
female
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.
caudal regression syndrome
Also known as cardiac-limb syndrome, ______ is characterized by anomalies of the upper limbs and the heart.
Holt-Oram Syndrome
The classic sonographic finding of Turner syndrome is a ______
cystic hygroma
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.
Noonan
The presence of a complete extra set of chromosomes is called _____
triploidy
______ band sequence, or ______ band syndrome, begins with the rupture of the amnion and subsequently results in the entrapment of fetal parts.
amniotic; amniotic
When a mother carries a gene that expresses itself in a male child, this is considered an ___ linked chromosome.
X
A pattern of the anomalies colobomatous malformation, heart defects, atresia choanae, retardation (mental and growth deficiencies), genital hypoplasia, and ear anomalies equates to ______ syndrome.
CHARGE
Cystic hygroma is common to Turner syndrome and Noonan syndrome; however, the identification of a _____ genitalia differentiates Noonan syndrome from Turner syndrome.
male
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.
Aicardi
Most triploidy pregnancies are owing to two ______ fertilizing one egg or from an extra chromosome set from the mother.
sperm
