Second-trimester ultrasound markers for detection of trisomy 21: which markers are best?

Abstract:

OBJECTIVE:To investigate which second-trimester ultrasound markers for aneuploidy are the most diagnostically efficient in detecting fetal trisomy 21. METHODS:All second-trimester genetic sonograms performed since November 1, 1992 for women at increased risk for fetal trisomy 21 were analyzed retrospectively. Statistical analysis included descriptive statistics, the test of proportions, and univariate and multivariable logistic regression analysis using trisomy 21 as the dependent variable and ten aneuploidy ultrasound markers as independent variables. RESULTS:There were 581 normal fetuses, 23 with trisomy 21 and four with other chromosomal abnormalities. When one or more abnormal ultrasound markers were present, the sensitivity and false-positive rate for trisomy 21 were 87% and 13.4%, respectively. After adjusting for confounders, multivariate logistic regression analysis showed the best combination of ultrasound markers for detecting trisomy 21 to be nuchal fold thickening (relative risk [RR] 85.5; 95% confidence interval [CI] 20.4, 357.7), pyelectasis (RR 25.2; 95% CI 6.7, 95.0), and short humerus (RR 20.4; 95% CI 4.5, 92.1). The model combining these three ultrasound markers yielded a sensitivity of 87% and a false-positive rate of 6.7%. CONCLUSION:By using only three ultrasound markers (combination of nuchal fold thickening, pyelectasis, and short humerus) the false-positive rate is decreased from 13.4% to 6.7% without any compromise in the sensitivity (87%). The clinical usefulness of evaluating the various second-trimester ultrasound markers needs to be evaluated in prospective studies.

journal_name

Obstet Gynecol

authors

Vintzileos AM,Campbell WA,Guzman ER,Smulian JC,McLean DA,Ananth CV

doi

10.1016/s0029-7844(97)00152-x

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

941-4

issue

6

eissn

0029-7844

issn

1873-233X

pii

S002978449700152X

journal_volume

89

pub_type

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