Jean Lea Spitz

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

BACKGROUND Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women. However, there have been few direct, well-powered studies comparing cfDNA testing with standard screening during the first trimester in routine prenatal populations. METHODS In this prospective, multicenter, blinded study conducted at 35 international centers, we assigned pregnant women presenting for aneuploidy screening at 10 to 14 weeks of gestation to undergo both standard screening (with measurement of nuchal translucency and biochemical analytes) and cfDNA testing. Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was based on diagnostic genetic testing or newborn examination. The primary outcome was the area under the receiver-operating-characteristic curve (AUC) for trisomy 21 (Downs syndrome) with cfDNA testing versus standard screening. We also evaluated cfDNA testing and standard screening to assess the risk of trisomies 18 and 13. RESULTS Of 18,955 women who were enrolled, results from 15,841 were available for analysis. The mean maternal age was 30.7 years, and the mean gestational age at testing was 12.5 weeks. The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for standard screening (P=0.001). Trisomy 21 was detected in 38 of 38 women (100%; 95% confidence interval [CI], 90.7 to 100) in the cfDNA-testing group, as compared with 30 of 38 women (78.9%; 95% CI, 62.7 to 90.4) in the standard-screening group (P=0.008). False positive rates were 0.06% (95% CI, 0.03 to 0.11) in the cfDNA group and 5.4% (95% CI, 5.1 to 5.8) in the standard-screening group (P<0.001). The positive predictive value for cfDNA testing was 80.9% (95% CI, 66.7 to 90.9), as compared with 3.4% (95% CI, 2.3 to 4.8) for standard screening (P<0.001). CONCLUSIONS In this large, routine prenatal-screening population, cfDNA testing for trisomy 21 had higher sensitivity, a lower false positive rate, and higher positive predictive value than did standard screening with the measurement of nuchal translucency and biochemical analytes. (Funded by Ariosa Diagnostics and Perinatal Quality Foundation; NEXT ClinicalTrials.gov number, NCT01511458.).

The case for an electronic fetal heart rate monitoring credentialing examination

The Perinatal Quality Foundation has created an examination containing both knowledge-based and judgment questions relating to the interpretation of electronic fetal heart rate monitoring for credentialing all medical and nursing personnel working on a labor and delivery floor. A description of the examination and the rationale for its use throughout the United States is presented.

Nuchal Translucency Quality Review (NTQR) program: first one and half million results.

To evaluate the performance of first‐trimester nuchal translucency (NT) measurement by providers (physician‐sonologists and sonographers) within the Nuchal Translucency Quality Review (NTQR) program.

Ultrasound Practitioner Master's Degree Curriculum and Questionnaire Response by the SDMS Membership

Following publication of the ultrasound practitioner (UP) masters degree educational proposal in August 1999, the UP Commission published a questionnaire to obtain feedback from SDMS membership to the UP concept. This article contains the results of that data collection. Additionally, as progress has been made in the development of UP programs around the country, refinement of the curriculum, as originally proposed, has begun. This article contains a breakdown of required didactic and clinical education for the midlevel provider in diagnostic ultrasound.

Re: ACES: Accurate Cervical Evaluation With Sonography.

To the Editor: Regarding the recent article by Chory et al,1 we applaud the authors’ efforts to standardize teaching of cervical length measurements within their residency program and absolutely concur with their recommendation that structured didactic and hands-on education must be included in residency and fellowship training. Their observation of the trainees’ clinically significant difference in measurements (median, 9.5 mm; interquartile range, 4.0– 15.0 mm) compared to that of a more experienced clinician before didactic training is notable (and logical), as is further improvement with standardized hands-on practice. In fact, we have reported that as many as 30% of providers trained with didactic information alone submitted inaccurate cervical measurement images.2 However, we strongly disagree with the authors that the Perinatal Quality Foundation’s Cervical Length Education and Review (CLEAR) program is “mostly aimed at sonographers and . . . not tailored to teaching obstetrics and gynecology residents.” The CLEAR program provides standardized criteria for obtaining and measuring appropriate reproducible images of the cervix using transvaginal sonography, regardless of the professional background or geographic location of the provider. In fact, we initiated the CLEAR program because we believe that all providers who measure the cervix or interpret those images should undergo standardized training and structured image review so that they can provide the best possible care to pregnant women. The CLEAR program is based on training methods used for hundreds of providers who participated in National Institutes of Health and other cervical length research studies, and representatives from the American College of Obstetricians and Gynecologists, the American College of Osteopathic Obstetricians and Gynecologists, the American College of Radiology, the American Institute of Ultrasound in Medicine, the Perinatal Quality Foundation, the Society of Diagnostic Medical Sonography, and the Society for Maternal-Fetal Medicine participated in its development. The CLEAR program offers continuing medical education and instruction to residents, fellows, physicians, sonographers, nurse-midwives, labor and delivery nurses, and anyone else tasked with measuring the cervix in a clinical setting. In 2016, CLEAR programs are being offered at the 2016 Society for Maternal-Fetal Medicine Annual Meeting and the American College of Obstetricians and Gynecologists District II Meeting, as well as within large health care systems (eg, Intermountain Healthcare, Salt Lake City, UT). The CLEAR program’s educational materials and continuing education credits are available online for a modest fee (http://www.perinatalquality.org). Reduced prices are available for fellows and trainees, state programs, research, and (on a case-by-case basis) large groups.

OP02.05: Disparities in first trimester screening in the US

Objectives: Mid-sagittal plane for examination of the posterior brain is part of the routine 11–13 weeks scan, but the oblique axial plane is not. Our objective was to asses the feasibility of including visualization of the oblique axial plane in combination with midsagittal plane for examination of the posterior fossa as part of the routine 11–13 week scan. Methods: Transvaginal followed by a transabdominal 2D and 3D ultrasound scan were performed in 100 consecutive well dated 11–13 weeks normal fetuses. A protocol including habitual landmarks of the head for mid-sagittal and axial planes was considered. Also a more oblique axial plane to evaluated posterior fossa, the acute angle observed in the transition between cerebral peduncles and the thalami and specific distances was included. Results: In the mid-sagittal plane, the two echogenic horizontal lines, representing the posterior border of the brainstem and the choroid plexus of the fourth ventricle and the specific distances, were obtained in 72% of cases. In the axial plane, shape of the skull and butterfly like choroid plexus were seen in all cases. Oblique axial plane at the level of the diencephalon and midbrain was easily obtained, and the acute angle of the peduncles and thalamis were observed in 96%. Anteroposterior diameters of the cisterna magna and fourth ventricle, and the distance between the aqueduct of Sylvius and the occipital bone were seen in 94% of the cases. Intraand interobserver repeatability showed no differences. Conclusions: Oblique axial plane for examination of the posterior fossa is easy and fast, and should be considered in combination with the mid-sagittal plane part of a routine 11–13 week scan. However, more studies should be done to confirm its utility to detection of fetuses with spina bifida.

Honoring Our Heritage: Kenneth R. Gottesfeld, MD

As part of the 20th anniversary of the Journal of Diagnostic Medical Sonography, the editorial board is initiating this symposium to honor and remember those who have supported, influenced, and defined the profession of sonography. The initial column honors Kenneth Taylor, MD, PhD, an academic radiologist known throughout the world for expanding the applications of diagnostic medical sonology. Dr. Taylor was educated in England, where he received PhD and MD degrees. He initially practiced surgery but became fascinated with the potential of sonographic imaging. He completed a fellowship in ultrasound and nuclear medicine and wrote a medical thesis on the diagnosis of hepatobiliary disease using gray-scale sonography in 1975. In 1979, he joined the Yale University School of Medicine, where he remained until his untimely death in February 2003. Dr. Taylor was author of more than 200 scientific articles and numerous textbooks. His projects and research extend from 1974 to 2003 and include articles on hepatobiliary and pelvic sonography, abdominal and pelvic vasculature, sonomammography, ovarian cancer screening, and sonographic contrast agents. Most sonographers practicing today use measurements and protocols initiated and refined by Dr. Taylor. Dr. Taylor worked closely with the Society of Diagnostic Medical Sonography (SDMS) and the Joint Review Committee on Education in Diagnostic Medical Sonography (JRC-DMS) in the development of standards for sonography education. His perceptions of sonography influenced others. The legacy that Dr. Taylor left for sonographers is far greater than the specifics of clinical practice. It is a legacy that we hope to share with you though this collection of tributes to and writings by Dr. Taylor.