The American Institute of Ultrasound in Medicine convened a panel of physicians and scientists with interest and expertise in 3-dimensional (3D) ultrasound in obstetrics and gynecology to discuss the current diagnostic benefits and technical limitations in obstetrics and gynecology and consider the utility and role of this type of imaging in clinical practice now and in the future. This conference was held in Orlando, Florida, June 16 and 17, 2005. Discussions considered state-of-the-art applications of 3D ultrasound, specific clinical situations in which it has been found to be helpful, the role of 3D volume acquisition for improving diagnostic efficiency and patient throughput, and recommendations for future investigations related to the utility of volume sonography in obstetrics and gynecology.

Three- and 4-dimensional ultrasound in obstetrics and gynecology: proceedings of the American Institute of Ultrasound in Medicine Consensus Conference.

Nasal bone assessment in prenatal screening for trisomy 21.

Objective The purpose of this article was to review the published literature on 3-dimensional ultrasound (3DUS) and 4-dimensional ultrasound (4DUS) in obstetrics and determine whether 3DUS adds diagnostic information to what is currently provided by 2-dimensional ultrasound (2DUS) and, if so, in what areas. Methods A PubMed search was conducted for articles reporting on the use of 3DUS or 4DUS in obstetrics. Seven-hundred six articles were identified, and among those, 525 were actually related to the subject of this review. Articles describing technical developments, clinical studies, reviews, editorials, and studies on fetal behavior or maternal-fetal bonding were reviewed. Results Three-dimensional ultrasound provides additional diagnostic information for the diagnosis of facial anomalies, especially facial clefts. There is also evidence that 3DUS provides additional diagnostic information in neural tube defects and skeletal malformations. Large studies comparing 2DUS and 3DUS for the diagnosis of congenital anomalies have not provided conclusive results. Preliminary evidence suggests that sonographic tomography may decrease the examination time of the obstetric ultrasound examination, with minimal impact on the visualization rates of anatomic structures. Conclusions Three-dimensional ultrasound provides additional diagnostic information for the diagnosis of facial anomalies, evaluation of neural tube defects, and skeletal malformations. Additional research is needed to determine the clinical role of 3DUS and 4DUS for the diagnosis of congenital heart disease and central nervous system anomalies. Future studies should determine whether the information contained in the volume data set, by itself, is sufficient to evaluate fetal biometric measurements and diagnose congenital anomalies.

Three- and 4-dimensional ultrasound in obstetric practice: does it help?

Objective

Three-dimensional (3D) ultrasound of the fetal face with maximal mode rendering allows accurate visualization of the bony face and the distinct demonstration of both nasal bones in second-trimester fetuses. The aim of this study was to analyze the feasibility of assessing nasal bones spatially on prenatal ultrasound in second- and third-trimester fetuses with present and absent nasal bones.



Methods

The faces of 38 fetuses between 17 and 33 weeks' gestation were examined with 3D ultrasound and volumes were stored for offline evaluation. Eighteen fetuses had normal karyotype and an apparently normal nasal bone on 2D ultrasound; these were examined to standardize the 3D rendering technique. Twenty fetuses had trisomy 21.



Results

In all 18 healthy fetuses both nasal bones could be demonstrated on 3D ultrasound. Nine of the 20 Down syndrome fetuses had a hypoplastic or absent nasal bone on two-dimensional ultrasound. On 3D ultrasound three of the nine had discrepant findings between left and right nasal bones with evidence of absence of one side, and hypoplasia (n = 2) or normal length (n = 1) of the other.



Conclusions

Unilateral absence or hypoplasia of nasal bones is an important and new observation in fetuses with Down syndrome. This differentiation is best demonstrated on 3D ultrasound with maximal mode rendering. This observation of unilaterality of findings could explain some discrepant findings on absence of nasal bones on two-dimensional ultrasound but their ‘presence’ on lateral postmortem radiographs. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.

Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome.

The Role of the Second Trimester Genetic Sonogram in Screening for Fetal Down Syndrome

Objective. This study examined the use of three-dimensional ultrasonography for evaluating the fetal nasal bone, as a sonographic marker of Down syndrome, during the second and early third trimesters of pregnancy. Methods. Forty fetuses, including 20 with trisomy 21, were scanned once by threedimensional ultrasonography. A midline sagittal view of the facial profile was used to analyze the volume data. Independent examiners reviewed blinded and randomly allocated volume data sets for the nasal bone. Interobserver reliability was evaluated for the sonographic presence or absence of the nasal bone. Logistic regression determined the contribution of this parameter to the presence of Down syndrome. Results. Both examiners showed substantial agreement in scoring whether the nasal bone was visualized by three-dimensional ultrasonography (P < .001). They identified 40% to 45% of fetuses with abnormalities using the absence of the nasal bone as a sonographic marker. However, a substantial number of fetuses with abnormalities were also found to have a nasal bone present. The nasal bone was visualized in 80% to 90% of fetuses without abnormalities. Conclusions. Three-dimensional ultrasonography can be used to evaluate the fetal nasal bone with substantial interobserver agreement during the second and early third trimesters of pregnancy. A nonvisualized nasal bone identified 40% to 45% of fetuses with Down syndrome in this study. Key words: fetus; nasal bone; prenatal diagnosis; three-dimensional ultrasonography; trisomy 21.

Giancarlo Conoscenti

Papers

Nasal bone evaluation in fetuses with Down syndrome during the second and third trimesters of pregnancy.