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To describe a cervical neuroblastoma revealed in the prenatal period. We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses. Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma. Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objective: To examine the outcome of pregnancy with fetal transverse cerebellar diameter (TCD) below the fifth percentile based on routine second- or third-trimester ultrasonography., Methods: We retrospectively analyzed the outcomes of 12 344 women according to TCD Z scores based on systematic second- or third-trimester ultrasound examination between 2007 and 2015. Information on major malformations, chromosomal anomalies, intrauterine or neonatal demise, and other abnormal findings were collected., Results: In total, 408 fetuses with small prenatal TCD underwent clinical investigation; 160 major malformations were noted, consisting mainly of neurological or cardiac anomalies (39,2%%). Chromosomal anomalies were reported in 39 (9.5%) and intrauterine or neonatal demise in 41 cases (10%). Major malformations and chromosomal anomalies were found in 46.4% and 10% of fetuses with extremely small TCD (Z score < -2.5), respectively, 31.3% and 12.7% of fetuses with small TCD (Z score between -2.0 and -1.645), and 39.6 % and 7.7% of fetuses with subnormal TCD (Z score between -2.0 and -1.645). Intrauterine or neonatal demise was noted in 22%, 8.8%, and 4.8% of fetuses with extremely small, small, and subnormal TCD, respectively (P < .05). Among intrauterine growth-restricted fetuses, fetal demise or neonatal adverse outcome was reported in 75%, 81.8%, and 18.5%, respectively. Of all the fetuses, 2.2% were lost to follow-up., Conclusion: A small cerebellar diameter below the fifth percentile is a relevant marker to detect associated anomalies during routine ultrasound examination in the second or third trimester. This is related to a high rate of fetal malformations, chromosomal anomalies, and genetic disorders, regardless of the severity of the cerebellar small size. Small TCD seems to be a prognostic factor for fetal growth restriction. Therefore, when facing a TCD below the fifth percentile, patients should be referred for further sonography and fetal karyotyping., (© 2019 John Wiley & Sons, Ltd.)

Objective: The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly., Method: A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our institution because of ventriculomegaly associated with dilatation of the SPR., Results: Ventriculomegaly of obstructive origin was diagnosed in all cases and related to obstruction downstream of the third ventricle. The diagnosis in the five prenatal cases, confirmed on early post-natal imaging, included the following: malformative aqueductal stenosis, ischemic-haemorrhagic parenchymal supra-tentorial insult complicated by aqueductal stenosis, Blake's pouch cyst, cystic lesion of the posterior fossa and sub-ependymal haemorrhage and Dandy-Walker malformation. In all cases, the third ventricle was prominent and associated with a dilated SPR. In two cases, the dilatation of the SPR was an early clue to e obstructive ventriculomegaly, which was initially minor and became severe on follow-up imaging., Conclusion: The presence of a dilated SPR prenatally in the presence of even mild ventriculomegaly should prompt evaluation and follow-up for the presence of obstructive ventriculomegaly with obstruction located downstream of the third ventricle., (© 2014 John Wiley & Sons, Ltd.)

Objective: The purpose of this article is to improve prenatal imaging diagnosis and counselling for cases of 'isolated' Dandy-Walker malformation (DWM) in the light of recent literature, which has demonstrated a potential good clinical and intellectual outcome of fetuses presenting with DWM characterised by partial vermian agenesis (identification of two fissures and three lobes) and absence of associated anatomical anomalies., Methods: This is a retrospective observational study of six consecutive prenatal cystic posterior fossa malformations, diagnosed as DWM, encountered in a national reference centre for posterior fossa malformations over a 2-year period., Results: In all cases, DWM was diagnosed as isolated (without any associated central nervous system or extra-central nervous system malformations and normal standard karyotype). Despite good-quality imaging, including fetal magnetic resonance imaging (MRI), prenatal analysis of the vermis was impossible because of limited identification of fissuration and lobulation. In three cases, a cytogenetic anomaly was found, including 6p subtelomeric deletion (n = 2) and partial 4 qter deletion associated with partial 7p trisomy (n = 1). One fetus with 6p deletion was terminated. In four of the five postnatal cases, MRI confirmed the diagnosis of DWM but provided only limited information for vermian analysis. In one case, postnatal MRI showed a large Blake's pouch cyst with rotated but complete vermis associated with a marked mass effect on the distal part of the tentorium. Of the four babies born with postnatal diagnosis of DWM, all required ventriculoperitoneal shunting because of early postnatal hydrocephalus., Conclusion: When fetal MRI is necessary to exclude additional cerebral lesions in the diagnosis of DWM, we highlight the inaccuracy of magnetic resonance for anatomical analysis of the vermis. We also emphasise the potential high incidence of subtelomeric anomalies in isolated DWM, especially 6p deletion. In the postnatal period, paediatricians should look for postnatal hydrocephalus even if the ventricular size is normal or slightly dilated on prenatal imaging., (© 2012 John Wiley & Sons, Ltd.)

Objectives: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported., Methods: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha., Results: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome., Conclusion: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available., (Copyright (c) 2005 John Wiley & Sons, Ltd.)

Objective: To describe a cervical neuroblastoma revealed in the prenatal period., Method: We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses., Results: Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma., Conclusion: Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses., (Copyright 2003 John Wiley & Sons, Ltd.)