The Principles of Clinical Cytogenetics - Extra Materials - Springer

302 Linda Marie Randolph
Table 14
Ultrasound Markers of Fetal Aneuploidy
Risk(s) of aneuploidy
Risk(s) of aneuploidy if other ultrasound
Finding if isolated finding abnormalities are present Comment
Structural heart defect 32–48% (153–155) 50–71% (153–155)
Intracardiac echogenic Not increased (160); 1.6-fold baseline Isolated left ventricular
foci fourfold to fivefold risk (160) foci appear more likely
baseline risk to be benign than
(163, 164) multiple or right-sided
foci (162)
Renal pyelectasis Not increased (179); One in 90 (178) In ref. 178, no adjustment
(>4mm before 33 3.3-fold increase made for maternal age.
wk and >7mm over baseline (177);
at 33 wk) 1 in 340 (178)
Choroid plexus cyst(s) Not increased (183, 82% (186); 3.5% (187); No adjustment for
191–193); 1 in 374 for 5% (106); 9.5%188; maternal age in ref. 190.
trisomy 18 (191); 1–2% 1 in 3 (101)
(186); 0.6% (187); 2.4%
(196); 3.1% (188); 4%
(189); 1 in 82 (190);
1 in 150 (191)
Septated nuchal membrane, 56–60% (142) Not studied Ref. 142 is a retrospective
9–20 wk; >3mm, 5mm, 15–20 wk pregnancies included in
study had isolated nuchal
finding and karyotype.
Simple nuchal membrane, 10–25% (142) Not studied
9–20 wk; >3mm, 5mm, 15–20 wk
Nuchal fold, >5mm, 19–33% (142) Not studied
15–20 wk
Nuchal thickening, 46% (144) 84% if hydrops and/or Best outcome was in
10–15 wk, >4mm septations are present nonseptated, nonhydropic;
(144) worst was in septated/
hydropic fetuses
Nuchal thickening,
9–15.5 wk, >3mm
Septated 80% (145) Other abnormalities
Simple 19% (145); 27-fold risk only reported for
for 34-year-old women chromosomally
and ninefold risk for normal fetuses
women 35 and older
(continued)