Fetal magnetic resonance imaging in the confirmation of congenital anomalies found on routine mid-trimester ultrasound.

OBJECTIVE: To determine the added value of fetal magnetic resonance imaging (MRI) when clarifying a suspected anomaly detected by mid-trimester scan. METHODS: Women attending two centers of fetal medicine between January 2017 and December 2021 were identified. The centers carried out routine mid-trimester ultrasound scans to detect fetal anomalies. Those with a suspected anomaly which required further clarification were referred for fetal magnetic resonance imaging (MRI). The medical records of all referred women were examined to determine the anomalies found at scan, MRI and termination of pregnancy or delivery. A total of 9571 women had a routine mid-trimester scan and an anomaly was either diagnosed or suspected in 449 (4.7%); an MRI examination was made in 76 cases (0.79%). RESULTS: MRI confirmed the presence of an abnormality in 61 referrals (80%) and failed to yield a result in one case. Outcome information was available for 69 cases: the MRI confirmation rate was 89% (48/54) in those with abnormal outcome and 40% (6/15) if the outcome was normal, P<0.0001. Among defects in the most common anatomical systems identified at ultrasound, the highest confirmation rates were for urinary tract abnormalities (94%, 15/16) and facial abnormalities (100%, 8/8). Results in other systems varied according to the specific defect but the confirmation rate was high for ventriculomegaly (86%, 6/7) and neural tube defects (83%, 5/6). CONCLUSIONS: We have shown that in women with suspected anomaly scan results, requiring further clarification, MRI confirmed ultrasound at a high rate, particularly for urinary tract and facial anomalies.

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus.

BACKGROUND: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. CASE REPORT: This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. CONCLUSION: We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma.

Renal parenchymal thickness in children with solitary functioning kidney.

BACKGROUND: Reduced renal parenchymal thickness (PT) is a parameter used by clinicians to assess the degree of hydronephrosis. In patients with a congenital hydronephrotic solitary functioning kidney (SFK), PT is difficult to determine as there is no comparison with the contralateral kidney. The aim of this study was to obtain ultrasound measurements of PT in children with normal SFK and to compare these data with PT measurements in children with two functioning kidneys. METHODS: This was a prospective multicenter study carried out between 2006 and 2011 in which 236 children aged 11 days to 18.96 years with healthy SFK were examined. The SFK etiologies were unilateral renal agenesis or a nonfunctioning contralateral kidney, mostly due to multicystic dysplasia. In addition to determining other parameters, we measured PT in the middle third of the kidney by ultrasound. Correlations between PT and age, height and weight were assessed. RESULTS: Correlation analysis showed a positive correlation with renal PT for all parameters. The correlation coefficients for age, height and weight were 0.863, 0.873 and 0.874, respectively. In most age categories, the renal parenchyma was significantly thicker in the SFK than in two functioning kidneys. CONCLUSIONS: Based on our results, we suggest that PT in the SFK is correlated with height, weight and age of the patient. Consequently, measurements of PT may be used for monitoring the development of the healthy SFK and may contribute to a more accurate assessment of the severity of SFK anomalies.

Computed tomography diagnosis of active bleeding into the thyroid gland.

BACKGROUND: Fine-needle biopsy of the thyroid gland is the most common interventional procedure used to diagnose thyroid diseases. Serious complications are rare in this procedure. They comprise an infection with abscess formation and hemorrhage. To date, only a few case reports have described an ultrasound diagnosis of active bleeding into the thyroid gland. We established such a diagnosis using computed tomography (CT). PATIENT FINDINGS: A 74-year-old woman presented to the emergency department of our hospital with complications after fine-needle biopsy of the thyroid gland. Ultrasound revealed a large hematoma surrounding the gland. A subsequent CT scan confirmed the presence of hematoma and, moreover, showed active bleeding. This finding prompted rapid surgical intervention. CONCLUSION: CT has the capability to show active bleeding into the thyroid gland.