Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

OBJECTIVE: To develop novel fetal reference ranges for the characterization of the normal appearance of the Sylvian fissures (SF) along gestation and to apply them to fetuses with cortical abnormalities affecting the SF. METHODS: In this cross-sectional study, we used three-dimensional sonographic multiplanar reformatting (3D-MPR) to examine the fetal SF. Normal development was assessed in the second and third trimesters. SF parameters were evaluated in predefined axial and coronal planes: insular height and length, SF depth, and the extent of the coverage of the insula by the frontal and temporal lobes. Intra-observer variability and inter-rater reliability for the studied parameters were evaluated. The new reference charts were applied to 19 fetuses with cortical abnormalities involving the SF who had appropriate sonographic volumes for 3D-MPR analysis. Their diagnoses were confirmed by autopsy, fetal or postnatal MRI, genetic findings related to cortical malformations, or an abnormal cortical imaging pattern with similar MRI findings in an affected sibling. We applied the two previously published references for the evaluation of fetal SF development to these cases and compared the ability of the references to correctly detect SF abnormalities. RESULTS: The study included 189 fetuses of low-risk singleton pregnancies between 24 and 34 gestational weeks. The insular length or height increased with gestational age in the axial and coronal planes with adjusted R2  = 0.621, p < 0.0001 and R2  = 0.384, p < 0.0001, respectively. The SF depth also increased with gestational age in the axial and coronal planes with adjusted R2  = 0.695, p < 0.0001 and R2  = 0.219, p = 0.008, respectively. The extent of the coverage of the insula by the frontal and temporal lobes in the coronal plane increased with gestational age (adjusted R2  = 0.627, p < 0.0001 and R2  = 0.589, p < 0.0001, respectively). The interclass correlation coefficients of the intra- and inter-rater reliability of the studied parameters ranged between 0.71 and 0.97. The cortical anomalies in the 19 fetuses were polymicrogyria (7), simplified gyral pattern (3), dysgyria (3), lissencephaly (2), cortical malformation related to tubulinopathy (1), brain atrophy (1), cortical dysplasia (1), and cobblestone malformation (1). Three of the fetuses had multiple cortical anomalies. In 17 of 19 (89%) cases, at least one of our 6 SF parameters was found to be out of the normal range. In the coronal plane, SF height and depth were measured below 2SD in 9 (47%) and 4 (21%) cases, respectively. In the axial plane, SF length and depth were out of the normal ranges in six (31.5%) and four (21%), correspondingly. In the coronal plane, the opercular coverage by the frontal and temporal lobes was below 2 SD in 10 (52%) and 11 (57%), respectively. The scoring of the SF operculization by Quarello et al. was abnormal in 8 cases (42%). The measurement of the SF angle according to Poon et al. was abnormal in 14 cases (74%). CONCLUSIONS: The fetal SF is a complex developing structure that can be reliably characterized by sonographic parameters. One abnormal parameter is sufficient to raise the suspicion of SF malformation. Our new SF parameters might facilitate the detection of prenatal cortical abnormalities affecting the SF.

A New Insight on Exophytic Serous Borderline Adnexal Tumors: Specific Sonographic Features.

OBJECTIVES: To characterize and compare the sonographic features of exophytic serous borderline ovarian tumors (ESBOT) with those of high-grade serous carcinoma of the ovary (HGSC). METHODS: Seven patients with histological diagnosis of ESBOT diagnosed between 2011 and 2019 and 10 consecutive cases of HGSC detected during 2019, both depicting an exophytic growth pattern, were identified retrospectively. The sonographic imaging of the masses was reassessed and characterized according to the International Ovarian Tumor Analysis terms. RESULTS: A unilateral irregular solid adnexal mass was demonstrated in all patients with ESBOT. The mass typically wrapped an apparently normal ovary, with a clear demarcation line depicted between them and it contained tiny cystic inclusions and calcifications. On color Doppler study of all the ESBOT cases, a unique vascular pattern could be demonstrated: an intratumoral vascular bundle originating from the ovarian vessels and supplying a rich radial blood flow to the tumor periphery. These characteristic morphological and color Doppler features could not be observed in any of the HGSC cases (P < .001). In 42.8% of the patients with ESBOT, additional unilocular-solid components (ipsilateral or contralateral) could be detected, whereas all the HGSC patients presented with a multilocular-solid tumor morphology (P < .001). The interface of the external mass border with the adjacent pelvic walls was regular in all the cases with ESBOT, whereas in 80% of HGSC patients, it was irregular, suggesting invasiveness (P = .002). CONCLUSIONS: ESBOT can mimic HGSC. Our results suggest that ESBOT has specific B-mode and color Doppler features, enabling differentiation from HGSC and planning appropriate intervention.

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal. CONCLUSIONS: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis.

The nuchal translucency examination leading to early diagnosis of structural fetal anomalies.

OBJECTIVE: To evaluate the ability to diagnose structural fetal anomalies during or soon after an extended nuchal translucency (NT) examination. METHODS: The study population included all women who had a routine NT examination in the ultrasound division of one of three centers. Also included in the study were women referred to these centers following an abnormal NT examination. The sonographers were instructed to pay attention to fetal anomalies while performing the NT examination. Each examination was initially attempted transabdominally. Failure to obtain adequate views transabdominally was an indication for a transvaginal examination. When a structural fetal anomaly was detected or suspected, a full fetal anomaly scan was performed. When a diagnosis could not be established, fetal anatomy scan was repeated after 14 weeks of gestation. Fetal cardiac scanning was performed transvaginally, immediately or within 3 days after an increased NT was observed. When fetal anomalies were diagnosed the patients were informed about the possibilities of terminating the pregnancy or continuing the work-up and follow-up. Overall, ascertainment of fetal outcome was available in 85% of the study population. RESULTS: We performed 4467 NT examinations during the study period and additional 123 fetal cardiac scanning following an abnormal NT examination. Overall, we performed 365 fetal cardiac scanning between 11 and 14 weeks of gestation. The fetal anomalies detected included the following: three skeletal anomalies, seven brain anomalies, four urinary system anomalies, four abdominal anomalies, two facial anomalies, and 13 cardiac anomalies. Six of the 13 cardiac anomalies were found in the atrioventricular canal. One third of the patients (11/33) elected to discontinue the pregnancy a short time after the detection of the congenital anomaly (until 14 weeks of gestation) and half of the patients (16\33) asked for termination of pregnancy later. More than 60% of the patients (20/33) with congenital anomalies detected following the NT examination refused to have chorionic villous sampling (CVS) or amniocentesis. CONCLUSION: The opportunity to scan the fetal anatomy in the early stages of pregnancy, when the NT examination is performed, justifies the approach of extended NT examination.

Sonographic evaluation of the superior sinus sagittalis.

OBJECTIVE: The aim of this study was to characterize the normal ultrasonographic growth of the fetal superior sinus sagittalis (SSS) throughout gestation. PATIENTS AND METHODS: In a prospective cross-sectional study, measurements of the fetal sinus sagittalis were obtained in patients undergoing elective fetal anatomical surveys or fetal growth scan at between 16.6 and 34.7 weeks of gestation. Special attention was given to the SSS of the fetal brain. On the coronal plane, the SSS may be easily identified immediately below the frontal bone, and anterior to the fetal head parenchyma. RESULTS: 206 fetuses were scanned. A regression line of the SSS was created throughout gestation and a first-degree correlation was found between gestational age (GA) and the SSS height (r = 0.418; p < 0.0001; SSS = -0.015 + 0.0178 × GA). Normal values were established for different gestational weeks. CONCLUSION: We provide ultrasonographic dimensions of the fetal SSS across pregnancy. This data potentially allows for prenatal diagnosis of abnormal appearance of the SSS.

Doppler studies of the ovarian venous blood flow in the diagnosis of adnexal torsion.

PURPOSE: To evaluate the role of ovarian Doppler studies in diagnosing adnexal torsion. METHODS: We included in that study all patients who had an adnexal mass with clinical symptoms of intermittent lower abdominal pain and were hospitalized for at least 48 hours of observation. Our protocol included: measurements of the size of the adnexal mass, presence or absence of ovarian edema, presence or absence of adnexal vascularity, presence or absence of ovarian artery flow, presence or absence of ovarian venous flow, pattern of ovarian venous flow. The ovarian artery and vein were sampled just above and lateral to the adnexa. Sensitivity, specificity, and positive and negative predictive values in the diagnosis of adnexal torsion were calculated for each of the gray-scale and Doppler sonographic (US) findings. RESULTS: One hundred and ninety-nine patients presented with adnexal mass and intermittent lower abdominal pain. Sensitivity and specificity of tissue edema, absence of intra-ovarian vascularity, absence of arterial flow, and absence or abnormal venous flow in the diagnosis of adnexal torsion were: 21% and 100%, 52% and 91%, 76% and 99%, and 100% and 97%, respectively. All patients with adnexal torsion had absent flow or abnormal flow pattern in the ovarian vein. In 13 patients, the only abnormality was absent or abnormal ovarian venous flow with normal gray-scale US appearance and normal arterial blood flow. Of these 13 patients, 8 (62%) had adnexal torsion or subtorsion. CONCLUSION: Abnormal ovarian venous flow may be the only abnormal US sign observed during the early stage of adnexal torsion.

Fetal cardiac scanning performed immediately following an abnormal nuchal translucency examination.

OBJECTIVE: To study the implications of early fetal cardiac scanning immediately following an abnormal nuchal translucency (NT) examination. METHODS: Fetal cardiac scanning was performed immediately after an increased NT was observed. Scans were performed transvaginally at 11 to 14 weeks. Fetal echocardiography was repeated between 14 and 24 weeks in continuing pregnancies, or when the cardiac scanning appeared normal at 11 to 14 weeks. RESULTS: We performed 2513 NT examinations. An abnormal NT was observed in 135 (5.4%) patients. In addition, 65 patients with an abnormal NT were referred to us for fetal cardiac scanning from other offices. Overall, we performed 200 fetal cardiac scans between 11.2 and 13.5 weeks for an abnormal NT examination. Twelve major fetal cardiac anomalies were diagnosed between 12 and 13.5 weeks. Seven patients (58%) terminated pregnancy between 12 and 14 weeks without performing chorionic villous sampling (CVS). Five patients asked for chromosomal analysis before deciding about their pregnancy. Fetal cardiac anomalies were suspected in six additional cases, but only one of them was diagnosed. Another five minor and one major fetal cardiac anomaly were suspected at 11 to 14 weeks but diagnosed later on fetal echocardiography. CONCLUSION: Major fetal cardiac anomalies can be detected immediately following an abnormal NT examination and be useful for the patients' decisions about the management of their pregnancy.