Ch. 33- Patterns of Fetal Anomalies

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

alpha-fetoprotein (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 sputum 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

pregnancy-associated plasma protein A (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 (uE3)

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

• syndrome

• disruption

• malformation

• association

association

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

• deletion

• inversion

• chemical agents

• translocation

chemical agents

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

• inversion

• insertion

• deletion

• translocation

inversion

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

• association

• insertion

• inheritance

• sequence

inheritance

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

• autosomal recessive gene association

• multifactorial inheritance

• autosomal dominant gene association

• X-linked gene association

multifactorial inheritance

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

• trisomy 13

• trisomy 18

• trisomy 21

• VACTERL association

trisomy 21

Second trimester biochemical screening should be performed between:

• 10 and 13 weeks

• 20 and 25 weeks

• 18 and 26 weeks

• 15 and 20 weeks

15 and 20 weeks

Select the choice that is not associated with diagnosing aneuploidy.

• chorionic villus smapling

• qualitative hCG

• amniocentesis

• umbilical blood sampling

qualitative hCG

The most apparent US finding with Aicardi syndrome is:

• agenesis of the corpus callosum

• club feet

• ectopic cordis

• short limbs

agenesis of the corpus callosum

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

• uterine synechiae

• uterine septations

• amniotic band sequence

• amniotic sheets

amniotic band sequence

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

• polydactyly

• spina bifida

• cloverleaf skull

• heart anomalies

heart anomalies

Trisomy 13 (Patau syndrome):

• is frequently related to advanced maternal age

• demonstrates no cranial anomalies

• includes a short umbilical cord

• involves the vertebrae with severe kyphoscoliosis

is frequently related to advanced maternal age

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):

• association

• malformation

• sequence

• deformation

malformation

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

• HOS syndrome

• trisomy 13

• Cri-du-chat syndrome

• Beckwith-Wiedmann syndrome

Beckwith-Wiedmann syndrome

VACTERL syndrome:

• is a collection of fetal anomalies

• is best diagnosed with inhibin A

• is determined with amniocentesis

• requires multiple anomalies including hip dysplasia

is a collection of fetal anomalies

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

• Goldenhar

• trisomy 13

• Meckel-Gruber

• monosomy X

Meckel-Gruber

Turner syndrome relates to:

• oligohydramnios owing to inadequate urine production

• the absence of a sex chromosome

• limb amputation

• hand anomalies

the absence of a sex chromosome

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

• syndrome

• disruption

• dysplasia

• association

dysplasia

A syndrome that is separated into two subgroups with one having raniofacial defects and one having a short cord, and atresia, lumbosacral meningocele, and urogenital malformations is:

• Patau syndrome

• Cri-du-chat syndrome

• Beckwith-Wiedemann syndrome

• limb-body wall complex

limb-body wall complex

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

• Holt-Oran syndrome

• CHARGE syndrome

• caudal dysplasia sequence

• Wilms syndrome

Holt-Oran 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; Edwards 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-trimestry US exam often displays a missing _________ bone.

nasal

Two environment teratogens that mimic genetic defects are ___________ and _______.

infection and drugs

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

maternal serum alpha-fetoprotein (MSAFP)

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

Craniosynostosis

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

Edward syndrome; 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 he amnion and subsequently results in the entrapment of fetal parts.

Amniotic; constriction

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 hygrometer 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 ________ ____________ one egg or from an extra chromosome set from the mother.

sperm fertilizing