Objective: Our purpose was to establish the sensitivity and specificity of various ultrasonographic markers of trisomy 21 in the second trimester of pregnancy on the basis of literature review and to generate tables that would allow adjusting the risk for trisomy 21, and therefore the need for genetic amniocentesis, depending on the presence or absence of these markers.
Study design: A computer search was performed of the English literature, including the years 1983 through 1993, of studies that used second-trimester ultrasonography to detect fetuses with trisomy 21. After statistical analysis of the reported studies was performed, the average sensitivity and specificity of the following ultrasonographic markers were determined: structural malformations, short femur, short humerus, combination of short femur and short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, and short ear length. After the average sensitivity and specificity of these ultrasonographic markers were established, appropriate tables were generated by Bayes' theorem to adjust the risk for trisomy 21 in the second trimester depending on the presence or absence of these markers. Statistical analyses were performed with the statistical package Excel on a personal computer.
Results: The average detection rate (sensitivity) of structural fetal malformations was 28%, short femur 31%, short humerus 33%, short femur and humerus 32%, nuchal fold thickening 32%, echogenic bowel 7%, and short ear length 71%. The nuchal fold thickening had the highest specificity (99.5%). Isolated pyelectasis was not associated with an increased risk for trisomy 21. However the risk was increased when pyelectasis was associated with other markers. In the presence of normal ultrasonographic results, the negative prediction can be combined with maternal age-related or biochemical prediction of trisomy 21 to help in the informed consent process in counseling women about the benefits and harms of genetic amniocentesis. Genetic amniocentesis should be considered in women of any age when second-trimester ultrasonography reveals the presence of one or more of the following: fetal structural malformations, short femur (determined by biparietal diameter-to-femur length ratio), combination of short femur and humerus, abnormal (> or = 6 mm) nuchal fold thickening, echogenic bowel, or short ear length.
Conclusion: In experienced hands second-trimester ultrasonography may be used to adjust the priori risk of both high and low-risk women for trisomy 21 and therefore the need for genetic amniocentesis.