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.

Long-term follow-up of children and adolescents with primary sclerosing cholangitis and autoimmune sclerosing cholangitis.

BACKGROUND: Sclerosing cholangitis (SC) is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate long-term results in children with SC according to the types of SC. METHODS: We retrospectively followed up 25 children with SC over a period of 4-17 years (median 12). The diagnosis of SC was based on biochemical, histological and cholangiographic findings. Patients fulfilling diagnostic criteria for probable or definite autoimmune hepatitis at the time of diagnosis were defined as having autoimmune sclerosing cholangitis (ASC); other patients were included in a group of primary sclerosing cholangitis (PSC). The incidence of the following complications was studied: obstructive cholangitis, portal hypertension, advanced liver disease and death associated with the primary disease. RESULTS: Fourteen (56%) patients had PSC and 11 (44%) had ASC. Patients with ASC were significantly younger at the time of diagnosis (12.3 vs 15.4 years, P=0.032) and had higher IgG levels (22.7 vs 17.2 g/L, P=0.003). The mentioned complications occurred in 4 (16%) patients with SC, exclusively in the PSC group: one patient died from colorectal cancer, one patient underwent liver transplantation and two patients, in whom severe bile duct stenosis was present at diagnosis, were endoscopically treated for acute cholangitis. Furthermore, two other children with ASC and 2 children with PSC had elevated aminotransferase levels. The 10-year overall survival was 95.8% in all patients, 100% in patients without complicated liver disease, and 75.0% in patients with complications. CONCLUSION: In children, ASC is a frequent type of SC, whose prognosis may be better than that in patients with PSC.

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.

Diagnostic accuracy of postnatal ultrasound screening for urinary tract abnormalities.

The study was aimed at (1) the determination of the incidence of abnormalities of the urinary tract in newborn infants detected by postnatal ultrasound screening, and (2) the evaluation of the diagnostic accuracy of postnatal ultrasound screening for detecting surgical urinary tract abnormalities. The prospective study was of full-term neonates born in the University Hospital of Olomouc in 2005-2008 who underwent renal ultrasound screening after 72 h of life. Significant findings were recorded. Subsequent diagnostic and therapeutic procedures were recorded and evaluated in a group of children with detected renal pelvic dilatation (RPD). (1) A total of 6,088 newborn infants was examined. The absolute and relative RPD incidence rates (anteroposterior diameter, APD) were as follows: 5-7 mm, 146 (2.4%); 7-10 mm, 70 (1.15%); 10-15 mm, 13 (0.21%), and 15 mm or more, 5 (0.08%). Of those, 16 children were operated on for abnormalities of the urinary tract, of which nine (56%) had been detected by prenatal screening. Other findings: six cases of unilateral renal agenesis, four cases of multicystic renal dysplasia, four of renal dystopia, one of polycystic kidney disease and one of renal hypoplasia. (2) A group of 224 children with postnatally detected RPD was examined, of whom 40 (17.9%) underwent voiding cystourethrography and/or scintigraphy and 16 (7.1%) were treated surgically. The receiver operating characteristic curves were analyzed, and the areas under the curves were calculated. Postnatal renal ultrasound screening is probably a suitable test for detecting significant urinary tract abnormalities.