Fetal magnetic resonance imaging (MRI) of ischemic brain injury

The aim of the present study was to demonstrate the usefulness of fetal magnetic resonance imaging (MRI) in ischemic brain injury. We report seven cases of fetal brain ischemia prenatally suspected on ultrasound (US) and confirmed by fetal MRI. Sonographic abnormalities included ventricular dilatation (n=3), microcephaly (n=1), twin pregnancy with in utero death of a twin and suspected cerebral lesion in the surviving co-twin (n=3). MRI was performed with a 1.0 T unit using half-Fourier acquisition single-shot turbo spin-echo (HASTE) sequences between 28 and 35 weeks of gestation. US and MRI images were compared with pathologic findings or postnatal imaging. MRI diagnosed hydranencephaly (n=1), porencephaly (n=2), multicystic encephalomalacia (n=2), unilateral capsular ischemia (n=1), corpus callosum and cerebral atrophy (n=1). In comparison with US, visualization of fetal brain anomalies was superior with MRI. The present cases demonstrate that MRI is a valuable complementary means of investigation when a brain pathology is discovered or suspected during prenatal US. Copyright © 2001 John Wiley & Sons, Ltd.     

Successful intrauterine shunting of a sacrococcygeal teratoma (SCT) causing fetal bladder obstruction

We report a case of a sacrococcygeal teratoma (SCT) diagnosed at 22 weeks with a substantial intrapelvic cystic extension leading to bladder outlet obstruction and hydronephrosis at 27 weeks. Prenatal percutaneous shunting of the cystic teratoma was performed at 28 weeks to avoid prolonged fetal pelvic compression by the tumour that could have adverse effects by stretching the pelvic plexus and sacral nerves. Urinary dilatation resolved completely after shunting and a 3880 g baby girl was delivered at 39 weeks. The potential benefits of in utero shunting to avoid urological complications of SCTs with intrapelvic extension are discussed. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of acute bladder distension associated with fetal sacrococcygeal teratoma—a case report

A case report of sacrococcygeal teratoma prenatally diagnosed at 23 weeks of amenorrhea, subsequently causing dilatation of both lower and upper urinary tracts is presented. The importance of repeated ultrasonographic evaluation of fetuses with sacrococcygeal teratoma is discussed.     

Klippel–Trenaunay–Weber (KTW) syndrome: the use of in utero magnetic resonance imaging (MRI) in a prospective diagnosis

The diagnosis of the Klippel–Trenaunay–Weber (KTW) syndrome is rarely made antenatally. We report the use of both ultrasound and in utero magnetic resonance imaging (MRI) in the prenatal diagnosis of this syndrome. This is the first report of the use of prenatal MRI in the diagnosis of this condition. There was concordance in the findings of both modalities, with limb hypertrophy, and multiple haemangiomata – both subcutaneous and internally – demonstrated with ultrasound and MRI. The patient elected to terminate the pregnancy because of associated oligohydramnios and a small fetal chest noted at 20 weeks. The postmortem examination confirmed the antenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

Congenital cervical teratoma,associated with agenesis of corpus callosum and a subarachnoid cyst

Cervical teratoma is a neoplasm composed of embryonic tissues with representation of all three germ layers. We report an extremely rare case of fetal cervical teratoma presenting at 24 weeks of gestation. A submaxillary mass and agenesis of corpus callosum were identified on ultrasonography, associated with agenesis of corpus callosum and a subarachnoid cyst. Copyright © 2005 John Wiley & Sons, Ltd.     

Oral teratoma (epignathus) with intracranial extension: A report of two cases

Epignathi are unusual congenital tumours presenting as oropharyngeal masses, often resulting in rapid asphyxia following birth. Occasionally, intracranial extension of the tumour is present, and two such cases are described. The presence of this complication, diagnosable by ultrasound examination, indicates that aggressive surgical treatment is inappropriate.     

Prenatal diagnosis of 46, XX/47, XXY mosaicism: A case report

A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.     

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.     

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex. Copyright © 2006 John Wiley & Sons, Ltd.     

First-trimester diagnosis of Bartsocas–Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature

Initially described in 1972, Bartsocas–Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester. Copyright © 2003 John Wiley & Sons, Ltd.