Agnieszka Nocun

Prenatal Detection of Congenital Heart Defects at the 11- to 13-Week Scan Using a Simple Color Doppler Protocol Including the 4-Chamber and 3-Vessel and Trachea Views

The first goal of this study was to analyze the diagnostic performance of the 4‐chamber view, 3‐vessel and trachea view, and their combination in color mapping during early cardiac evaluations for selecting cases suspicious of congenital heart defects. The second goal was to describe the most common abnormal flow patterns at the levels of the 4‐chamber and 3‐vessel and trachea views in the late first trimester.

Transrectal Ultrasound-Guided Hysteroscopic Myomectomy of Submucosal Myomas With a Varying Degree of Myometrial Penetration

STUDY OBJECTIVE To predict the 1-step complete resection rate after transrectal ultrasound-guided hysteroscopic myomectomy and to determine the usefulness of intraoperative transrectal ultrasonography (TRUS) in monitoring hysteroscopic electroresection of submucosal myomas. DESIGN Prospective cohort study (Canadian Task Force classification II-1). SETTING University hospital. PATIENTS One hundred twenty women with symptomatic (abnormal uterine bleeding or reproductive disorder), single, submucosal myomas underwent hysteroscopic electroresection. Groups 1 and 2 were monitored, respectively, with or without TRUS. Anatomical inclusion criteria were myoma ≤5 cm and myometrial free margin ≥3 mm above the myoma. INTERVENTIONS Myomas were evaluated preoperatively via sonohysterograpy and were graded according to the guidelines outlined by the European Society of Hysteroscopy (ESH), including size and myometrial free margin, and according to the STEPW (size, topography, extension, penetration, and lateral wall) classification. On the basis of sonographic findings, patients with myomas >3 cm received gonadotropin-releasing hormone therapy for 1 to 3 months. Hysteroscopic myomectomy was performed with or without TRUS guidance. At 4 to 8 weeks after the initial procedure, postoperative transvaginal ultrasonography, sonohysterography, or second-look hysteroscopy was performed. MEASUREMENTS AND MAIN RESULTS In the TRUS group, a significantly higher percentage of 1-step complete resections was observed than in the group without TRUS (91% vs 73%) (p = .02). This was associated with a statistically significant difference in the subgroups of myomas that were deeply penetrating into the myometrium (89% vs 55%) (p < .01). One-way logistic analysis of data for all treated patients indicated the use of TRUS, as well as the ESH and STEPW classifications, as significant factors influencing the 1-step complete resection. At multivariable logistic regression analysis, use of TRUS (odds ratio [OR], 2.74; p < .001), myomas graded 0 or 1 according to ESH (OR, 3.55; p < .001), and size <3 cm (OR, 2.35; p < .05) were significantly associated with 1-step complete resection (area under the curve, 0.80; p < .001). In the TRUS group there were two significant predictors: size <3 cm (OR = 5.21; p < .05) and myometrial free margin <5 mm (OR, 0.18; p < .05). CONCLUSION Intraoperative use of TRUS during hysteroscopic myomectomy increases the chance of complete 1-step removal of submucosal myomas that deeply penetrate the myometrium.

Accuracy of hysterosalpingo-foam sonography in comparison to hysterosalpingo-contrast sonography with air/saline and to laparoscopy with dye

Study question What is the diagnostic accuracy of 2D/3D hysterosalpingo-foam sonography (HyFoSy) and 2D/3D-high-definition flow Doppler (HDF)-HyFoSy in comparison to laparoscopy with dye chromotubation (as the reference method) and 2D air/saline-enhanced hysterosalpingo-contrast sonography (HyCoSy) (as the initial index test)? Summary answer 2D/3D-HDF-HyFoSy had the best diagnostic accuracy and was the only method that did not significantly differ from the reference method, while both 2D/3D-HyFoSy and 2D/3D-HDF-HyFoSy had significantly higher accuracy than 2D-air/saline-HyCoSy. What is known already Previous studies on X-ray hysterosalpingography and laparoscopy and dye as the reference standard have undermined the impact of older commercial contrast agents on the accuracy of ultrasound tubal patency tests. Recently, HyFoSy was reported to have very high accuracy in a small pilot study in comparison to laparoscopy and dye, and had a very high positive predictive value (PPV) for medical tubal occlusion. A new Doppler sonographic technique, known as HDF imaging with better axial resolution, fewer blooming artifacts and higher sensitivity than color and power Doppler imaging, has been introduced. Study design, size, duration A prospective observational study was performed on 132 women (259 Fallopian tubes) consecutively enrolled between 2013 and 2015. Participants/materials, setting, methods This study included infertile women of reproductive age who previously had not been examined for tubal patency and who presented for the evaluation to the university hospital, private hospital and clinic at which this study was conducted. 2D-Air/saline-HyCoSy, 2D/3D-HyFoSy and 2D/3D-HDF-HyFoSy and laparoscopy were performed independently by experienced readers. During HyFoSy, the 3D mode was used for standardization of pelvic scanning and observations of contrast flow without diagnosis after volume acquisition. Sensitivity, specificity, negative and positive predictive value (NPV and PPV), negative and positive-likelihood ratio (LR- and LR+) and 95% CI were calculated. McNemars test and relative predictive values (a comparison of NPV and PPV) were used to compare all the index tests. Main results and the role of chance 2D-Air/saline-HyCoSy, 2D/3D-HyFoSy and 2D/3D-HDF-HyFoSy indicated that 46 (17.8%), 27 (10.4%) and 24 (9.2%) of the 259 tubes were occluded, respectively; additionally, inconclusive results were obtained for 8 (3%), 5 (1.9%) and 3 (1.2%) tubes, respectively. The reference method revealed 18 (6.9%) occluded Fallopian tubes. 2D-Air/saline-HyCoSy had a high NPV (99.5%) that was similar to that of 2D/3D-HyFoSy (99%) and 2D/3D-HDF-HyFoSy (99.6%) (P > 0.05), but had a very low PPV (30.4%). The use of 2D/3D-HyFoSy, especially 2D/3D-HDF-HyFoSy, which had a significantly higher PPV (48% and 71%, P < 0.05 and P < 0.01; respectively), resulted in fewer false positive and inconclusive findings than the use of 2D-air/saline-HyCoSy. The LR- and LR+ was 0.14 and 14.8, respectively, for 2D/3D-HyFoSy, 0.06 and 32.1, respectively, for 2D/3D-HDF-HyFoSy, and 0.08 and 6.9, respectively, for 2D-air/saline-HyCoSy. The number of inconclusive or positive results per patient was significantly fewer with 2D/3D-HyFoSy (odds ratio, OR = 0.5, CI = 0.3-0.95, P < 0.05) and 2D/3D-HDF-HyFoSy (OR = 0.4, 95% CI = 0.2-0.8, P < 0.01) than with 2D-air/saline-HyCoSy. Limitations, reasons for caution An unselected infertile population with a low prevalence of tubal occlusion is suitable for estimating the diagnostic accuracy of imaging tests only as a screening tool. Wider implications of the findings These findings can be used to establish a diagnostic strategy with high accuracy but minimum invasiveness and limited use of contrast agents and sophisticated technology. 2D-Air/saline-HyCoSy, which has a high NPV, is suitable as an initial test and basic screening method, but 2D/3D-HDF-HyFoSy, which has a significantly higher PPV, can be used as a standard to verify any questionable or positive results obtained with 2D HyCoSy. This strategy may signficantly reduce the need for laparoscopy as a reference standard. Study funding/competing interest(s) There was no external funding for this study, and the authors have no conflicts of interest to declare. Trial registration number N/A.

First trimester tricuspid regurgitation and fetal abnormalities

Abstract Background: Tricuspid regurgitation (TR) is a common sonographic finding during the fetal life. It has been reported in 7% of normal fetuses. It may be associated with aneuploidy and with both cardiac and extracardiac defects. Objectives: In this study, we have looked at the characteristics of fetuses with and without TR at 11+0 to 13+6 weeks’ gestation. Groups were compared with respect to the following variables: prevalence of chromosomal defects; other markers of aneuploidy; fetal cardiac; and extracardiac anomalies. Methods: The study group included women, who underwent an ultrasound examination at 11–13+6 weeks’ gestation between 2009 and 2012. The inclusion criteria were singleton pregnancies with crown-rump length measurements of 45–84 mm where the pregnancy outcome was known. Results: Some 1075 patients met our inclusion criteria including 979 fetuses without TR and 96 with TR. There were 72 cases of aneuploidy diagnosed (6.7%). Isolated TR was found in 53 euploid fetuses (5.2%). All of the TR(+) aneuploid fetuses (n=40) had additional ultrasound markers present. Extracardiac anatomy showed a higher prevalence of abnormalities in the group of TR positives (12.5%) vs. TR negatives (1.6%). Abnormal cardiac findings were more frequent in the TR-positive group independently of chromosomal status and were found in 18.8% of fetuses with TR and in 1.9% with a normal tricuspid flow. Conclusions: TR in combination with other markers is the strongest predictor for aneuploidy. TR, as an isolated parameter, is a poor screening tool both for all and for each individual chromosomal abnormality and congenital cardiac defects.

What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

Abstract Objectives: To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS. Methods: This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy. Results: Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p < 0.05) were found between euploidy and TS groups in terms of nuchal translucency (NT; 1.7 mm versus 8.8 mm) and fetal heart rate (FHR; 160 versus 171 beats per minute). None of the TS cases demonstrated absent markers of aneuploidy as opposed to 5133 (91.4%) cases of euploidy. NT and abnormal DV flow (aDV or revDV) were the most common markers found in combination in TS cases (n = 17; 54.8%). 27 (0.5%) cases of euploidy and 17 (54.8%) cases of TS revealed congenital heart defects. Fetal hydrops was observed in 14 cases of TS (43.8%) and in 5 of euploidy (0.1%). In backward regression model, NT > 3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively. Conclusions: First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.

How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?

Abstract Trisomy 18 (T18) remains the second most common aneuploidy. It is associated with multiple congenital anomalies and causes intrauterine fetal demise in the most severe cases. Objectives: To examine the screening performance of ultrasound-based protocols for detecting T18, we aimed to determine the most common signs and their prevalence in fetuses with T18 to develop logistic regression model. Methods: This was a prospective study based on singleton pregnancies examined at gestation 11+0 to 13+6. The referrals constituted 6210 patients. Scan protocol enclosed a systematic review of the entire early fetal anatomy, including fetal cardiac evaluation and sonographic signs of aneuploidy. Results: Our study population comprised 5650 pregnancies: 5613 cases with a normal karyotype and 37 cases with T18. The mean nuchal translucency (NT) thickness in the subgroup of euploidy was 1.7 and in the subgroup of T18 it was 5.4. No statistically significant differences were found in terms of maternal age. One case of T18 (2.7%) demonstrated no markers of aneuploidy as opposed to 5111 cases of euploidy (91.1%). Extracardiac malformations were identified in 13 cases of T18 (35.1%) and in 48 cases of euploidy (0.8%). Congenital heart defects were observed in 26 cases of T18 (70.3%) and in 27 cases of euploidy (0.5%). Conclusions: Our results showed good screening performance of ultrasound-based risk calculation models. When the first trimester pattern of T18 is considered, an increased NT, tricuspid regurgitation, single umbilical artery, omphalocele and right dominant heart should be specifically searched for.

First trimester severe ductus venosus flow abnormalities in isolation or combination with other markers of aneuploidy and fetal anomalies

Abstract Background: Altered flow in ductus venosus (DV) may be caused by the changes in preload or afterload. Its association with aneuploidy and congenital heart defects (CHDs) was widely described. Objectives: The aim of this study was to examine the incidence of a reversed a-wave in DV flow (revDV) and the absence of DV (noDV), their coincidences with other markers of aneuploidy or fetal abnormalities in a mixed-risk population. Methods: The study group covered women who underwent an ultrasound scan between 11+0 and 13+6 weeks’ gestation. Applied inclusion criteria: Singleton pregnancies with known pregnancy outcome and a crown-rump length of 45–84 mm. Results: A total of 5811 cases, including 137 aneuploidies, met the inclusion criteria: 35 subjects of noDV, 189 of revDV and 5587 of normal DV flow. The incidence of noDV in euploidy was 0.47%, and in aneuploidy 5.8%. The incidence of revDV in euploidy was 2.46%, and in aneuploidy 35.7%. Among aneuploidy, the highest prevalence of noDV was found in monosomy 45X. revDV showed the highest prevalence in trisomy 18. Isolated noDV was only found in euploidy. Isolated revDV subjects were only observed in euploidy and trisomy 21. Any combination of revDV with additional markers showed high incidence in major trisomies. Extracardiac anatomy and abnormal cardiac findings showed a higher prevalence in noDV and revDV cases. Conclusions: The presence of noDV might be useful in suspicion of monosomy X among cases with increased nuchal translucency, as well as in differentiating them from other aneuploidies. The combinations of aneuploidy markers with revDV are strong indicators of aneuploidy. revDV alone is a poor screening tool for aneuploidy and euploidy with CHD.

Combined screening test for trisomy 21 - is it as efficient as we believe?

Abstract Objectives: To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies. Methods: This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance. Results: The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA. Conclusions: The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

Screening for trisomy 18 using traditional combined screening vs. ultrasound-based protocol in tertiary center environment

Abstract Objectives: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. Methods: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening. Each subject was offered a choice between either a traditional combined screening (CSG arm) or an ultrasound-based screening (USG arm). General and MA-based screening performances were measured. Results: The study population comprised 10 820 pregnancies as follows: 5132 in the CSG arm, including 28 cases of T18, and 5688 in the USG arm, including 29 cases of T18. In the CSG arm, the detection rate (DR) for T18 at a false-positive rate (FPR) of 3% was 86%, whereas the DR was 100% for the USG arm. MA influenced the T18 screening performance in the CSG arm and reduced the DR in MA ranges  <26 years and 31–35 years. This influence was not observed in the USG arm. Conclusions: Only, a multiparameter ultrasound-based screening method may be considered an effective alternative to combined screening for T18 screening. The technique exhibits high and stable DRs irrespective of MA.

Four Steps in Diagnosing Complete Agenesis of the Corpus Callosum in Prenatal Life.

PURPOSE Among congenital brain anomalies, complete agenesis of the corpus callosum (cACC) including cases of callosal hypoplasia has a prevalence of 1.8 per 10 000 in the general population. It is also one of the most challenging brain anomalies to detect during the mid-trimester ultrasound scan. Standard axial planes do not provide enough information to make the definitive diagnosis of cACC. MATERIALS AND METHODS From our library of images and ultrasound reports, we reviewed our most recent cases of complete agenesis of the corpus callosum in the fetus at the mid-trimester scan. In our analysis we included only cases that were confirmed postnatally or by autopsy. Exams were performed between January 2010 and June 2012. All of the patients were scanned transabdominally by means of 2 D and static 3 D. From the 2 D and 3 D images we identified 4 anatomical views that consistently gave us enough information to identify cACC: axial biparietal transthalamic view (AX1); axial biparietal falx view (AX2); coronal transthalamic view (COR); mid-sagittal view (SAG). RESULTS From our library 30 cases were selected with confirmed cACC postnatally or in autopsy findings. The mean gestational age at the time of referral to our center was 20.7 weeks (range 19 - 23 weeks). In all analyzed cases sufficient 2 D images were found and in 93.3 % of them informative 3 D volumes were also available for off-line review. We identified the following patterns of cACC at the mid-trimester scan: A- normal size of 3 rd ventricle + normal size of the lateral ventricles or mild ventriculomegaly; B1- dilated 3 rd ventricle + normal size of the lateral ventricles; B2- dilated 3 rd ventricle + mild or moderate ventriculomegaly; C- dilated 3 rd ventricle + severe ventriculomegaly; D- gross dilatation of 3 rd ventricle with the appearance of interhemispheric cyst. The AX1 view revealed: absence of the cavum septum pellucidi in all cases; dilatation of the third ventricle in 86.6 % of cases; separation of frontal horns in 83.3 % of cases; ventriculomegaly in 73.3 % of cases, including 13.6 % with severe forms. The AX2 view showed separation of the interhemispheric fissure (IHF) in 90 % of cases and upward displacement of the 3 rd ventricle in 80 % of cases. The COR view confirmed separation of the interhemispheric fissure in 90 % of cases including gross separation in 7.4 % of cases; absence of CC fibers at this level and descent of the falx towards the roof of the 3 rd ventricle in all cases, and upward displacement of the 3 rd ventricle in 80 % of cases. The SAG view revealed the absence of the CSP-CC complex in all cases and dilatation of the 3 rd ventricle in 86.6 % of cases. CONCLUSION 1. We suggest a stepwise ultrasound diagnostic approach for cACC and variations of this condition. 2. We suggest a classification of characteristic patterns found in fetuses with proven cACC based on findings presented in axial views.