Prenatal diagnosis of a craniopharyngioma using ultrasonography and magnetic resonance imaging

We report an infant with a craniopharyngioma which was detected in utero. Maternal uterine ultrasonography, done at 27 weeks because of polyhydramnios, revealed a 4 cm midline mass near the base of the fetal skull. At 31 weeks, magnetic resonance imaging of the maternal abdomen confirmed the presence of a mass in the region of the third ventricle and revealed hydrocephalus. Two days post-partum a computed tomography (CT)-guided needle biopsy of the mass was performed and recovered tissue which was histologically consistent with a craniopharyngioma. The infant' s postnatal period was complicated by seizures, which were treated with phenobarbital, and by progressive hydrocephalus, necessitating placement of a ventriculo-peritoneal shunt. He also received therapy for central hypothyroidism and diabetes insipidus. The infant' s parents refused permission for attempted resection of the tumour and he died at 8 weeks of age. This represents the second reported case of an antenatally detected craniopharyngioma. Four other cases of different intracranial tumours have been detected in utero using ultrasound, with no reported survivors past 3 days of age. There is a uniformly poor prognosis of such infants, but earlier diagnosis and intervention may change this result.     

Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging

A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gesta-tional dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2·64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.     

Holoprosencephaly: Prenatal diagnosis by sonography and magnetic resonance imaging

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).     

Schizencephaly: Prenatal diagnosis by computed sonography and magnetic resonance imaging

Magnetic resonance (MR) imaging was performed at 29 weeks of pregnancy after ultrasonographic detection of an abnormal cleft in the fetal brain. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of schizencephaly improving the visualization of symmetrical broad clefts connecting the lateral ventricles with the subarachnoid space. Schizencephaly was finally confirmed by neonatal US, computed tomography, and MR.     

Prenatal diagnosis of congenital epulis by three-dimensional ultrasound and magnetic resonance imaging

Congenital epulis is a benign intraoral tumor that has rarely been diagnosed prenatally. We report a fetus with congenital epulis diagnosed by three-dimensional (3-D) ultrasound and fetal magnetic resonance imaging (MRI) at 35 weeks' gestation. We show an image of congenital epulis using a new ultrasound technique, the 3-D multislice view, which shows images similar to CT or MRI. This is a short case report of congenital epulis diagnosed prenatally by 3-D ultrasound using multislice view and MRI. Copyright © 2006 John Wiley & Sons, Ltd.     

Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging

Omphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.     

Prenatal diagnosis of congenital mesoblastic nephroma in mid-second trimester by sonography and magnetic resonance imaging

Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal diagnosis of CMN has previously been made on the basis of the findings of sonography in the third trimester, and magnetic resonance imaging (MRI)–based diagnosis has been reported recently. Here we report a case of prenatally diagnosed classical type CMN diagnosed at 22 + 3 weeks of gestation based on the findings of sonography and magnetic resonance imaging. The characteristic imaging findings in this case were fetal hydrops and polyhydramnios. To our knowledge, this is the youngest reported gestational age for prenatal diagnosis of CMN and it is the second case of CMN associated with fetal hydrops detected prenatally. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Hunter syndrome using fetal plasma

The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.     

Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis

Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.