The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience.

OBJECTIVE: To characterize the patient population utilizing circulating cell-free fetal DNA (ccffDNA) testing at a large academic center and evaluate trends in the performance of invasive diagnostic procedures. STUDY DESIGN: A retrospective cohort study of all patients who underwent cell-free DNA testing from May to December 2012 was performed. RESULT: During the study period, 206 patients had cell-free DNA testing. Of those, 75% (155/206) were of ages ⩾ 35 years. Of those undergoing ccffDNA testing, 41% had positive aneuploidy screening and 38% had abnormal ultrasound findings. Only 7% of the patients with negative ccffDNA testing opted for an invasive diagnostic procedure compared with 60% with positive testing (P<0.01). The rate of invasive procedures decreased from 5.9% of all visits to the center during a similar 8-month period in 2010 to 4.1% of all visits during the study period (P<0.01). CONCLUSION: Our data suggest that ccffDNA testing leads to reduced uptake of invasive procedures.

Transperineal three-dimensional ultrasound in evaluating anal sphincter muscles.

OBJECTIVES: To evaluate whether transperineal three-dimensional (3D) ultrasound can be used to depict normal anal sphincter anatomy and to measure the thickness of muscle layers and the anteroposterior length of the levator hiatus. METHODS: The study included 22 normal nulliparous female volunteers. Transperineal 3D sonographic evaluation of the anal canal included assessment of sphincter shape, echogenicity, marginal definition and muscle thickness. Measurements of the thickness of the internal anal sphincter (IAS) and puborectalis muscle (PRM) were determined with the women at rest and during squeezing by two observers, and interobserver reliability was determined. The anteroposterior length of the levator hiatus at rest and during squeezing was measured. RESULTS: The proximal end of the anal canal (towards the rectum) consisted of overlapping IAS and PRM, and the distal end (towards the anus) consisted of overlapping IAS and external anal sphincter (EAS). At the PRM level, the mean +/- SD IAS thickness was 2.3 +/- 0.5 mm at rest and 2.5 +/- 0.4 mm during squeezing, and at the mid-EAS level it was 2.9 +/- 0.5 mm at rest and 2.8 +/- 0.5 mm during squeezing. The PRM thickness was 6.5 +/- 1.0 mm at rest and 6.4 +/- 1.2 mm during squeezing. The difference in muscle thickness of the sphincter layers with the woman at rest and during squeezing was not significant. The anteroposterior length of the levator hiatus was 51.7 +/- 5.0 mm at rest and 47.4 +/- 4.1 mm during squeezing (P < 0.01). CONCLUSION: Transperineal 3D ultrasound may be useful in evaluating the anatomy of the anal canal.

Prenatal three-dimensional ultrasound: perception of sonographers, sonologists and undergraduate students.

OBJECTIVE: To assess the perception of non-pregnant sonographers, sonologists and undergraduate students on the use of three-dimensional (3D) ultrasound technology in fetal medicine. METHODS: This was a study of two groups of non-pregnant subjects. Group I included 520 (305 female, 215 male) medical professionals who completed a questionnaire after attending a lecture on 3D imaging. Factors such as gender, career and having children were analyzed with respect to the attendee's responses about use of 3D ultrasound for medical purposes and for reassurance. Group II included 137 (75 female, 60 male, two unknown) undergraduate students from bioengineering, psychology and physiology classes who completed a questionnaire after attending a brief presentation on two-dimensional and 3D fetal imaging. Factors such as gender and area of educational interest were analyzed with respect to the students' responses about the use of 3D ultrasound for medical purposes and for parental-fetal attachment. RESULTS: In Group I, 63% said that they would like to have a 3D ultrasound examination in the future, while 14% said that they would not. Common reasons given for wanting a 3D ultrasound exam in the future were for medical purposes (39%) or reassurance (18%). The main differences perceived between two-dimensional (2D) and 3D ultrasound were medical advantages (65%) and parental reassurance (28%). 62.4% of Group I thought 3D technology should be in wide use in obstetric ultrasound and 73.6% thought that 3D ultrasound would reassure parents carrying normal fetuses. Gender, age and career did not have a significant influence on perception of 3D ultrasound. In Group II, the majority (91%) said they could see a remarkable difference between 2D and 3D ultrasound. 83% responded that they would like to have a 3D ultrasound examination of their own baby in the future for the following reasons: 34% for the detailed picture, 31% for increased abnormality detection, 13% for reassurance or curiosity; 8% thought it would be unnecessary or a negative experience. Concerning parental-fetal attachment, 72% thought 3D ultrasound would have a positive effect. The majority of Group II (93%) thought 3D ultrasound would be valuable and 56% thought 3D ultrasound would assist in diagnosing fetal abnormalities. There was no significant relationship between gender, age or area of interest and the perception of 3D ultrasound. CONCLUSIONS: Responses by sonographers and physicians suggest that 3D ultrasound will have a role in the future for medical indications and in reassuring patients carrying normal fetuses. Our results also suggest that undergraduate students believe that 3D ultrasound will be a valuable technique in obstetrics and that it will have a positive effect on parental-fetal attachment.

Effects of ultrasound on maternal-fetal bonding: a comparison of two- and three-dimensional imaging.

OBJECTIVES: The purpose of this study was to evaluate the effect of two-dimensional (2DUS) compared to three-dimensional ultrasound (3DUS) imaging on the maternal-fetal bonding process. METHODS: Fifty mothers who had 2DUS and 50 who had 2DUS and 3DUS were included in the study. A postpartum survey by telephone interview was carried out to assess maternal-fetal bonding. Bonding was evaluated by analysis of extent of prenatal image sharing, maternal ability to form a mental picture of the baby and mother's comments about their ultrasound images. Data were analyzed using the independent t-test, Chi-square and Mann-Whitney U-tests. RESULTS: Mothers who received 3DUS showed their ultrasound images to more people (median, 27.5; interquartile range, 14.5-40.0) than mothers receiving 2DUS alone (median, 11.0; interquartile range, 5.0-25.5) (P < 0.001, Z = -3.539). Eighty-two percent of the subjects screened with 3DUS had a greater tendency to form a mental picture of the baby postexamination compared to 39% of the 2DUS subjects (P < 0.001, Z = -3.614). Mothers receiving a 3DUS study were more likely to receive comments on the similarities/differences of the neonate compared to those having 2DUS studies. Furthermore, 70% of the mothers receiving 3DUS felt they 'knew' the baby immediately after birth vs. 56% of the mothers receiving 2DUS (P = 0.009, Z = -2.613). Both 2DUS and 3DUS experiences were positive, however, the comments made by the mothers undergoing 3DUS (n = 18) were more exclamatory (amazed, wonderful, fabulous) than those undergoing 2DUS (n = 4). Patients having a 3DUS examination consistently scored higher than those having a 2DUS examination alone for all categories of maternal-fetal bonding. CONCLUSION: 3DUS appears to more positively influence the perceptions of mothers to their babies postbirth compared to 2DUS. Specifically, mothers who had 3DUS showed their ultrasound images to a greater number of people compared to mothers who had 2DUS alone and this may represent mother's social support system. 3DUS may have a greater impact on the maternal-fetal bonding process.

Feasibility of performing a virtual patient examination using three-dimensional ultrasonographic data acquired at remote locations.

OBJECTIVE: To evaluate the feasibility of performing three-dimensional ultrasonographic studies that meet American Institute of Ultrasound in Medicine and American College of Radiology ultrasonographic examination guidelines with review off-line and at remote locations. METHODS: One hundred patients were studied at 2 institutions using high-end two-dimensional clinical ultrasonographic scanners and commercially available three-dimensional ultrasonography for a variety of organ systems (first- and second-trimester fetus, abdomen, and female pelvis). We evaluated several parameters, including measurements, completeness of organ visualization, abnormalities identified, image quality, number of volumes required, and discrepancies between interpretations. RESULTS: Overall, three-dimensional ultrasonography could produce diagnostic-quality results comparable with those of two-dimensional ultrasonography. Three-dimensional ultrasonographic image quality was lower than that of two-dimensional ultrasonography. Two- and three-dimensional ultrasonographic measurements were comparable (<5% difference), as was the extent of organ visualization, although some structures were challenging for both two- and three-dimensional ultrasonography. In general, organs completely imaged in the scanner field of view required 1 to 1.5 volumes, whereas larger organs required between 3 and 6 volumes. Differences among reviewers' interpretations highlighted the need for standardization of acquisition and reviewing protocols for sonographers and physicians. CONCLUSIONS: Our results show that it is clinically feasible to acquire three-dimensional ultrasonographic data at one site and to obtain accurate interpretation by off-line review at another within the context of providing high-quality clinical diagnostic studies.

Three-dimensional ultrasound in obstetrics and gynecology.

Three-dimensional ultrasound is a new modality finding its way into clinical practice. Most of the major ultrasound vendors are now developing three-dimensional ultrasound capabilities. We expect that although three-dimensional ultrasound will not replace two-dimensional ultrasound, many additional benefits will be identified and its use will continue to grow. The ability to evaluate anatomy and pathology with multiplanar and surface-rendered images provides physicians additional valuable clinical information. Volume data allows for a specific point in space to be evaluated from many different orienta tions by rotating, slicing, and referencing the slice to other orthogonal slices. It also allows for new volume-rendering displays that show depth, curvature, and surface images not available with conventional methods. The current limitations of image resolution, intuitive interfaces for obtaining and displaying optimal images, and technologic limitations for data storage and manipulation (including real-time three-dimensional ultrasound) will surely be overcome in the near future.

Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound.

Jarcho-Levin syndrome (JLS) or spondylothoracic dysotosis causes early newborn death from respiratory insufficiency. Prenatal diagnosis is possible using fetal ultrasound, but requires a high level of suspicion and definitive diagnosis may be delayed well into the second trimester. We present a case in which a combination of three-dimensional ultrasound and measurement of nuchal translucency thickness allowed successful detection of recurrent JLS at 12 weeks' gestation.

Three-dimensional ultrasonography and assessment of the first-trimester fetus.

We used transvaginal three-dimensional ultrasonography to assess the first-trimester fetus and compared the findings with contemporaneous two-dimensional ultrasonographic studies. Multiplanar three-dimensional ultrasonography provided good visualization of fetal anatomy and allowed fetal measurement and assessment of nuchal translucency thickness. Three-dimensional ultrasonography required significantly less time to perform and to interpret than two-dimensional ultrasonography. Three-dimensional ultrasonography is an effective means of assessing the first-trimester fetus and offers potential advantages over two-dimensional ultrasonography.

Value of three-dimensional US for optimizing guidance for ablating focal liver tumors.

PURPOSE: To determine if three-dimensional ultrasound (3D US), by nature of its ability to simultaneously evaluate structures in three orthogonal planes and to study relationships of devices to tumor(s) and surrounding anatomic structures from any desired orientation, adds significant additional information to real-time 2D US used for placement of devices for ablation of focal liver tumors. MATERIALS AND METHODS: Sixteen patients underwent focal ablation of 23 liver tumors during two intraoperative cryoablation (CA) procedures, three intraoperative radiofrequency ablation (RFA) procedures, 11 percutaneous ethanol injections (PEI) procedures, and six percutaneous RFA procedures. After satisfactory placement of the ablative device(s) with 2D US guidance, 3D US was used to reevaluate adequacy to device position. Information added by 3D US and resultant alterations in device deployment were tabulated. RESULTS: 3D US added information in 20 of 22 (91%) procedures and caused the operator to readjust the number or position of ablative devices in 10 of 22 (45%) of procedures. Specifically, 3D US improved visualization and confident localization of devices in 13 of 22 (59%) procedures, detected unacceptable device placement in 10 of 22 (45%), and determined that 2D US had incorrectly predicted device orientation to a tumor in three of 22 (14%). CONCLUSIONS: Compared to conventional 2D US, 3D US provides additional relationship information for improved placement and optimal distribution of ablative agents for treatment of focal liver malignancy.

Fetal lip and primary palate: three-dimensional versus two-dimensional US.

PURPOSE: To determine if three-dimensional (3D) ultrasonography (US) improves the ability to define the location and extent of facial clefting prenatally compared with two-dimensional (2D) US. MATERIALS AND METHODS: Thirty-one fetuses suspected of having a facial cleft were examined prospectively with 2D and 3D US. Follow-up was performed in all fetuses. RESULTS: Twenty-eight fetuses had a cleft lip at birth. The location of the cleft lip was correctly identified in all fetuses with 3D US and in 26 of 28 with 2D US. Twenty-two fetuses had a cleft primary palate. Nineteen and nine of 22 cleft palates were identified by using 3D and 2D US, respectively. Three fetuses suspected of having a facial cleft at 2D US had a normal palate at 3D US and at birth. CONCLUSION: Three-dimensional US is useful to identify the location and extent of facial clefting. The advantages of 3D US are the following: (a) The face may be viewed in a standard orientation, (b) the defect may be viewed systematically by using an interactive display, and (c) the rendered image provides landmarks for the planar images. Patient decisions may be affected, since they can view the abnormality on a recognizable 3D rendered image.

Three-dimensional ultrasonographic imaging of the neonatal brain in high-risk neonates: preliminary study.

The aim of this investigation was to compare the utility of three-dimensional ultrasonography versus two-dimensional ultrasonography in imaging the neonatal brain. Thirty patients in the neonatal intensive care unit underwent two-dimensional and three-dimensional ultrasonography. The resultant two- and three-dimensional images recorded on film and three-dimensional volumes (reviewed on a workstation) were evaluated independently. Comparable numbers of normal and abnormal studies were diagnosed by each modality. Axial images were considered useful in approximately 50% of three-dimensional cases. Image quality, overall and in the far-field, was rated higher on two-dimensional images. Three-dimensional sonographic acquisition time in the neonatal intensive care unit (1.7 min+/-0.7 standard deviation) was significantly shorter than that for two-dimensional sonography (9.0+/-4.5 min). The total time for evaluation on the three-dimensional workstation (4.4+/-1.1 min) was significantly less than that for two-dimensional images on film (10.6+/-4.7 min). In conclusion, three-dimensional ultrasonography is a promising, diagnostically accurate, and efficient imaging tool for evaluation of the neonatal brain; however, visualization must improve before it can replace two-dimensional ultrasonography.

Adjunctive 3D US for achieving portal vein access during transjugular intrahepatic portosystemic shunt procedures.

PURPOSE: To evaluate the usefulness of information provided by three-dimensional ultrasound (3D US) and to determine whether 3D US decreased the number of passes required to obtain portal vein (PV) access during creation of transjugular intrahepatic portosystemic shunts (TIPS). MATERIALS AND METHODS: Intermittent 3D US volume acquisitions were obtained during creation of TIPS in 20 patients. Useful information provided by 3D US was tabulated. The number of passes required to achieve PV access was recorded and results were compared retrospectively to 25 patients who underwent TIPS without 3D US. RESULTS: 3D US documented that the operator's opinion of which hepatic vein had been selected was incorrect in nine patients (45%), detected unfavorable PV anatomy that required modification of equipment or technique in seven patients (35%), permitted estimation of the trajectory required to access the targeted PV in all patients (100%), assisted in selecting the optimal point along the hepatic vein for origination of the needle pass in 11 patients (55%), allowed avoidance of a large hepatocellular carcinoma in one patient (5%), and confirmed that access into the main PV was intrahepatic in four patients (20%). The mean number of needle passes decreased from 10.4 in the historic control group to 4.6 in the 3D US group (P = .0001). CONCLUSION: 3D US provided imaging information that detected technical errors and altered anatomy, and provided positional and directional information to significantly improve needle pass efficiency.

Adjunctive 3D US for achieving portal vein access during transjugular intrahepatic portosystemic shunt procedures.

PURPOSE: To evaluate the usefulness of information provided by three-dimensional ultrasound (3D US) and to determine whether 3D US decreased the number of passes required to obtain portal vein (PV) access during creation of transjugular intrahepatic portosystemic shunts (TIPS). MATERIALS AND METHODS: Intermittent 3D US volume acquisitions were obtained during creation of TIPS in 20 patients. Useful information provided by 3D US was tabulated. The number of passes required to achieve PV access was recorded and results were compared retrospectively to 25 patients who underwent TIPS without 3D US. RESULTS: 3D US documented that the operator's opinion of which hepatic vein had been selected was incorrect in nine patients (45%), detected unfavorable PV anatomy that required modification of equipment or technique in seven patients (35%), permitted estimation of the trajectory required to access the targeted PV in all patients (100%), assisted in selecting the optimal point along the hepatic vein for origination of the needle pass in 11 patients (55%), allowed avoidance of a large hepatocellular carcinoma in one patient (5%), and confirmed that access into the main PV was intrahepatic in four patients (20%). The mean number of needle passes decreased from 10.4 in the historic control group to 4.6 in the 3D US group (P = .0001). CONCLUSION: 3D US provided imaging information that detected technical errors and altered anatomy, and provided positional and directional information to significantly improve needle pass efficiency.

Fetal skeletal dysplasia: three-dimensional US--initial experience.

PURPOSE: To compare the prenatal ultrasonographic (US) features of skeletal dysplasia by using two-dimensional (2D) and three-dimensional (3D) US to determine whether 3D US can reveal additional diagnostic information. MATERIALS AND METHODS: Seven pregnant women suspected of having skeletal dysplasia were examined by using 2D US and 3D US. Data regarding the thorax, spine, face, limbs, hands, and feet were compared. Multiplanar and volume-rendered US images were evaluated. RESULTS: The skeletal dysplasias studied included camptomelic dysplasia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-limbed dysplasia (n = 1). Three-dimensional US, by allowing review in a standard anatomic orientation, was better than 2D US in depicting abnormal spatial relationships such as short ribs, splayed digits, and absent bones. Three-dimensional US enabled the acquisition of additional information in two fetuses with facial abnormalities and in two fetuses with scapular aplasia or hypoplasia (one fetus had both facial and scapular anomalies); it enabled a specific diagnosis in one fetus. The archiving capabilities of 3D US allow the review and manipulation of data after the patient has left the clinic. CONCLUSION: In three of seven patients, 3D US provided additional information in the evaluation of skeletal dysplasias, as compared with 2D US.

Three-dimensional ultrasound in the evaluation of fetal anomalies.

OBJECTIVES: To determine the additional information and clinical impact provided by three-dimensional ultrasound (3D US) imaging of fetal anomalies compared to conventional 2-dimensional ultrasound (2D US). MATERIALS AND METHODS: Sixty-three patients with 103 anomalies were scanned prospectively with both 2D and 3D US. Each anomaly was reviewed by one or more fetal imaging specialists to determine whether the 3D US data were advantageous, equivalent, or disadvantageous when compared with 2D US images. Clinical impact and pathologic or clinical outcome were determined in all cases. RESULTS: The 3D US images provided additional information in 53 anomalies (51%), were equivalent to 2D US images in 46 anomalies (45%), and were disadvantageous in four anomalies (4%). The 3D US was most helpful in evaluating fetuses with facial anomalies, hand and foot abnormalities and axial spine and neural tube defects. Planar images derived from 3D US volume data sets generally were more helpful for diagnostic purposes, whereas rendered 3D US images were more useful as a point of reference and were better appreciated by patients in understanding fetal abnormalities. Additional information provided by 3D US images impacted clinical management in 5% of patients. The 3D US images were disadvantageous in two fetuses with multiple anomalies and two with cardiac anomalies. CONCLUSION: The 3D US offered diagnostic advantages in about one-half of the selected cases studied and had effect on patient management in 5% of cases. This modality can be a powerful adjunctive tool to 2D US in providing a more comprehensible, 3D US impression of congenital anomalies. Thus, 3D US is currently most helpful as a targeted study complementing 2D US.

Artifacts and the visualization of fetal distal extremities using three-dimensional ultrasound.

OBJECTIVES: To demonstrate that acoustic shadowing in 3D US may give rise to artifacts simulating limb defects and provide a solution to eliminate its occurrence. METHODS: Twenty second trimester fetuses (gestational age 15-24 weeks) were scanned with three-dimensional ultrasound (3D US) using a sagittal acquisition plane. Fetal tibia/fibula and radius/ulna pairs were assessed for completeness of imaging. A further 20 fetuses (gestational age 20-26 weeks) were scanned in both axial and sagittal planes and the results compared to verify clear visualization of both bones. RESULTS: Shadowing from adjacent structures produced an apparent limb defect in 55% of the first 20 fetuses imaged only sagittally (18% of limb pairs). Acquiring data from more than one orientation avoided this artifact. CONCLUSIONS: The 3D US is subject to the same artifacts as two-dimensional (2D US) in terms of acoustic shadowing, although their presentation may be different. Awareness of this fact is essential for correct interpretation of 3D US studies. Three-dimensional scanning protocols should be modified to ensure that fetal structures are adequately visualized by acquiring volume data in more than one acquisition orientation.

Sources and impact of artifacts on clinical three-dimensional ultrasound imaging.

The purpose of this paper is to investigate, identify and discuss artifacts and their sources arising in three-dimensional ultrasound (3D US) in clinical practice in order to increase the awareness of clinicians and sonographers with respect to common 3D US artifacts and to use this increased awareness to avoid or reduce the occurrence of misdiagnosis in 3D US studies. Patient 3D US data were acquired using several different scanners and reviewed interactively on the scanner and graphics workstations. Artifacts were catalogued according to artifact origin. Two-dimensional ultrasound (2D US) artifacts were classified whether they were of a B-mode or color/power Doppler origin and their presentation in the original scan planes and the resulting volume re-sliced planes and rendered images was identified. Artifacts unique to 3D US were observed, noted and catalogued on the basis of whether they arose during acquisition, rendering or volume editing operations. Acoustic artifacts identified included drop-out, shadowing, etc. whose presentation depended on the relationship between slice and imaging plane orientation. Color/power Doppler artifacts were related to gain, aliasing, and flash which could add apparent structure or confusion to the volume images. Rendered images also demonstrated artifacts due to shadowing and motion of adjacent structures, cardiac motion or pulsatility of the cardiac septum or vessel walls. Editing artifacts potentially removed important structures. Three-dimensional ultrasound is prone to the same types of artifacts encountered in 2D US imaging plus others unique to volume acquisition and visualization. The consequences of these diagnostically significant artifacts include mimicking of abnormal development, masses, or missing structures thus requiring careful study before reaching a diagnosis.