Early second-trimester individualized estimation of trisomy 18 risk by ultrasound.
OBJECTIVE
To report two second-trimester ultrasound algorithms for trisomy 18 prediction.


METHODS
Femur length, gross anomaly, choroid plexus cysts, two-vessel cord, and maternal age were documented in pregnancies undergoing genetic amniocentesis. Stepwise logistic regression was used to identify 1) the significant markers for predicting trisomy 18 when gross anomaly was not considered (algorithm 1) and 2) when gross anomaly was also considered (algorithm 2). Patient-specific risk was calculated based on the significant ultrasound markers plus maternal age. The diagnostic accuracy of each algorithm was determined.


RESULTS
There were 1167 normal and 47 trisomy 18 cases. The mean gestational ages were 16.5 weeks (standard deviation [SD] 1.5) and 17.9 weeks (SD 1.6), respectively. Algorithm 1 consisted of maternal age, choroid plexus cyst, femur length, and two-vessel cord. The sensitivity and false positive rates were 61.7% and 1.5%, respectively, with an area under the receiver operating characteristics curve of 0.880 (P <.001). Algorithm 2 (age, femur length, gross anomaly, and choroid plexus cyst) had a sensitivity of 72.3% and false positive rate of 0.9% with an area under the curve of 0.956 (P <.001). Comparable detection rates were achieved in early gestation at up to and including 17.5 weeks (72.4% and 82.8%, algorithms 1 and 2, respectively, at a 4.0% false positive rate).


CONCLUSIONS
The ultrasound markers were sensitive for trisomy 18 detection in the early second trimester.
Bahado-Singh
Ray O
RO
Department of Obstetrics and Gynecology, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267-0526, USA. rbahadosingh@aol.com
Choi
Sang-Joon
SJ
Oz
Utku
U
Mendilcioglu
Inanc
I
Rowther
Minu
M
Persutte
Wayne
W
D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging; D016022:Case-Control Studies; D002831:Choroid Plexus / Q000000981:diagnostic imaging / Q000196:embryology; D002887:Chromosomes, Human, Pair 18; D003560:Cysts / Q000000981:diagnostic imaging; D005189:False Positive Reactions; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000196:embryology; D006801:Humans; D016015:Logistic Models; D008423:Maternal Age; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal / Q000379:methods / Q000592:standards*; D014470:Umbilical Cord / Q000002:abnormalities / Q000000981:diagnostic imaging