Ultrasound markers

Question 1

Hydrocephaly

Answer 1

dilation in brain ventricles, risk of aneuploidy 10%, many syndromes associated, differential: IVH (intraventricular hemorrhage), infection (cytomegalovirus, toxoplasmosis), neoplasm (cancer); work up: amnio

Question 2

neural tube defect

Answer 2

risk of aneuploidy 9%; other possibilities: isolated, numerous syndromes; work up: amnio

Question 3

duodenal atresia

Answer 3

“double bubble;” polyhydramnios; risk of aneuploidy - 30% for T21; differential: ileal atresia

Question 4

fetal hydrops

Answer 4

two or more abnormal fluid spaces; risk of aneuploidy: 30-80%; differential: infection, CHF, CHF, metabolic, mass, anemia; workup: cordocentesis

Question 5

bladder outlet obstruction

Answer 5

“keyhole” urethra; oligohydramnios; risk of aneuploidy: 20% for T18, T13; bladder tap for karyotype; bladder shunt as possible treatment

Question 6

increased nuchal skin fold

Answer 6

> 6mm skin from 16-20 weeks, risk of aneuploidy 50% for T21, work up - quad screen and amnio

Question 7

increased nuchal translucency

Answer 7

high risk for down syndrome; differential: CHD, CDH; work up - serum screening, CVS

Question 8

echogenic bowel

Answer 8

denser than bone, likelihood ratio of aneuploidy 6.7; differential: CF, CMV, blood; work up - maternal screening and amnio

Question 9

absent/hypoplastic nasal bone

Answer 9

risk of aneuploidy: 60% for T21; work up - CVS and amnio