FACE/HEAD
CHEST/ABD
EXTREMITIES
CNS
ANEUPLOIDY
100

A small mandible (chin) is termed:

Micrognathia

100

Malformation or malpositioning of the tricuspid valve results in what anomaly?

Ebstein

100

Having more than the normal number of digits:

Polydactyly

100

Lateral ventricles measuring above ___ mm is considered abnormal

10

100

What are the alternative names for these:

Trisomy 21

Trisomy 18

Trisomy 13

Trisomy 21- Down syndrome

Trisomy 18- Edwards syndrome

Trisomy 13- Patau syndrome

200

Condition in which the orbits are fused together

Cyclopia

200

What is the fluid surrounding the lungs referred to as

Pleural Effusion

200

Abnormal curvature of the sole of the foot:

Rocker-bottom foot

200

What is the sonographic appearance of a choroid plexus cyst?

Anechoic & Round



200

Which is the most common chromosome abnormality to have a SUA (single umbilical artery)?

Trisomy 18

300

One of the most common sonographic findings for Arnold- Chiari II Malformation is ?

Lemon shaped cranium "Lemon Sign"

Cerebellum will become displaced and appear curved "Banana Sign"

300

The most common reason for fetal cardiac malposition is

Diaphragmatic Hernia.

300

Describes the decreased length of the entire extremity:

Micromelia

300

Premature fusion of the sutures is termed

Craniosynostosis

300

What genetic marker is considered as sensitive as a thickened NF (nuchal fold) in screening for Down syndrome?

Absent nasal bone

400

A normal shaped skull is termed mesocephaly. What are the two abnormal skull shapes termed?

(Not strawberry, lemon, or cloverleaf)

Brachycephaly

Dolichocephaly

400

What is the leading cause of cardiac death in the neonatal period?

Hypolastic left heart syndrome

400

Fusion of the legs, also referred to as the mermaid syndrome:

Sirenomelia

400

One of the most common neural tube defects

Acrania

400

Which chromosome abnormality is a lethal condition and is rarely reported in live births?

Triploidy

500

The sonographic appearance of _______ has been described as having "froglike" facies, or bulging eyes, and the absence of the cranial vault.

Anencephaly

500

Two of the most common ventral abdominal wall defects are?

Gastroschisis & Omphalocele

500

Absent long bones with the hands and feet arising from the shoulders and hips describes:

Phocomelia

500

Where is the most common location for a cephalocele?

Occipital Region

500

(Blank) is a condition in which a male has an extra X chromosome; characteristic features include small testis, infertility, gynecomastia, long legs/arms, and abnormally low intelligence.

Klinefelter syndrome

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