Fetal pericallosal lipomas - Clues to diagnosis in the second trimester.

INTRODUCTION: Pericallosal lipomas (PCL) are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum (CC). The lipomas are usually diagnosed prenatally during the third trimester. The purpose of this study was to identify 2nd trimester ultrasound findings that may hint to a later diagnosis of PCL and to evaluate their MRI evolution. METHODS: A multicenter study of fetuses diagnosed during the 3rd trimester with a PCL in 7 fetal ultrasound units between 2001 and 2017. We reevaluated the ultrasound and MRI images starting from the referral examination and until the time of diagnosis, searching for clues that could have prompted an earlier diagnosis. Parents were contacted at the end of the study period to obtain information regarding development and neurological examination. RESULTS: Fifteen patients with PCL were diagnosed during the study period; fourteen had second trimester scans. A 2nd trimester diagnosis was established in only 2 (13.3%). Anomalies of the CC were evident in 8/14 patients during the 2nd trimester scan and included: short length (n = 4), increased thickness (n = 1), complete agenesis (n = 2) and partial agenesis (n = 1). Third trimester ultrasound scans were considered diagnostic of PCL in all 12 remaining cases, in eight it was considered an isolated finding. Postnatal neurological evaluation in the isolated cases revealed normal development in all children. One child was diagnosed with attention deficit disorder. CONCLUSIONS: Non visualization of a PCL during the 2nd trimester is common, and should not be considered a diagnostic error. An underlying PCL should be included in the differential diagnosis of CC anomalies during this time period, necessitating further follow up into the 3rd trimester.

The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies.

What is the recommended diagnostic work-up of female genital anomalies according to the European Society of Human Reproduction and Embryology (ESHRE)/European Society for Gynaecological Endoscopy (ESGE) system? The ESHRE/ESGE consensus for the diagnosis of female genital anomalies is presented. Accurate diagnosis of congenital anomalies still remains a clinical challenge due to the drawbacks of the previous classification systems and the non-systematic use of diagnostic methods with varying accuracy, with some of them quite inaccurate. Currently, a wide range of non-invasive diagnostic procedures are available, enriching the opportunity to accurately detect the anatomical status of the female genital tract, as well as a new objective and comprehensive classification system with well-described classes and sub-classes. The ESHRE/ESGE Congenital Uterine Anomalies (CONUTA) Working Group established an initiative with the goal of developing a consensus for the diagnosis of female genital anomalies. The CONUTA working group and imaging experts in the field have been appointed to run the project. The consensus is developed based on (1) evaluation of the currently available diagnostic methods and, more specifically, of their characteristics with the use of the experts panel consensus method and of their diagnostic accuracy performing a systematic review of evidence and (2) consensus for (a) the definition of where and how to measure uterine wall thickness and (b) the recommendations for the diagnostic work-up of female genital anomalies, based on the results of the previous evaluation procedure, with the use of the experts panel consensus method. Uterine wall thickness is defined as the distance between interostial line and external uterine profile at the midcoronal plane of the uterus; alternatively, if a coronal plane is not available, the mean anterior and posterior uterine wall thickness at the longitudinal plane could be used. Gynaecological examination and two-dimensional ultrasound (2D US) are recommended for the evaluation of asymptomatic women. Three-dimensional ultrasound (3D US) is recommended for the diagnosis of female genital anomalies in "symptomatic" patients belonging to high-risk groups for the presence of a female genital anomaly and in any asymptomatic woman suspected to have an anomaly from routine avaluation. Magnetic resonance imaging (MRI) and endoscopic evaluation are recommended for the sub-group of patients with suspected complex anomalies or in diagnostic dilemmas. Adolescents with symptoms suggestive for the presence of a female genital anomaly should be thoroughly evaluated with 2D US, 3D US, MRI and endoscopy. The various diagnostic methods should be used in a proper way and evaluated by experts to avoid mis-, over- and underdiagnosis. The role of a combined ultrasound examination and outpatient hysteroscopy should be prospectively evaluated. It is a challenge for further research, based on diagnosis, to objectively evaluate the clinical consequences related to various degrees of uterine deformity.

Intracranial translucency at 11-13 weeks of gestation: prospective evaluation and reproducibility of measurements.

OBJECTIVE: This paper aimed to determine the feasibility of identification and measurement reproducibility of intracranial translucency (IT) in our population. METHODS: This is a prospective study in which five accredited operators attempted to identify and measure the IT during first-trimester sonographic screening for aneuploidy in 990 fetuses. The presence or absence of spina bifida was determined at the time of the second-trimester scan or after birth. Measurement reproducibility was assessed through intraclass correlation coefficient (ICC) on a subgroup of 150 fetuses. RESULTS: Identification and measurement of the IT were possible in 961 (97%) cases. The mean IT anteroposterior diameter was 1.8 mm (SD ± 0.37; range 0.8-3.1), and the size increased linearly with advancing gestation (IT = 0.74 + 0.02 × crown-rump length; r(2) = 0.15, p < 0.0001). The only fetus with spina bifida in this series presented with absent IT. Intra-observer and inter-observer ICCs were 0.79 and 0.75, respectively (95% confidence intervals 0.72-0.84 and 0.67-0.81, respectively; both p < 0.001). CONCLUSIONS: The IT increases linearly with increasing crown-rump length and seems to be of value in the first-trimester detection of spina bifida. It is easy to identify and measure and shows excellent intra-observer and inter-observer reproducibility measurements.