Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study

Mascio, Daniele Di; Khalil, Asma; Pilu, G.; Rizzo, Giuseppe; Caulo, Massimo; Liberati, Marco; Giancotti, Antonella; Lees, C.; Volpe, P.; Buca, Danilo; Oronzi, Ludovica; D’Amico, Alice; Tinari, Sara; Stampalija, Tamara; Fantasia, Ilaria; Pasquini, Lucia; Masini, Giulia; Brunelli, Roberto; D’Ambrosio, Valentina; Muzii, Ludovico; Manganaro, Lucia; Antonelli, Amanda; Ercolani, Giada; Ciulla, Sandra; Saccone, Gabriele; Maruotti, Giuseppe Maria; Carbone, Luigi; Zullo, Fulvio; Olivieri, Claudiana; Ghi, T.; Frusca, T.; Dall’Asta, A.; Visentin, Silvia; Cosmi, Erich; Forlani, F.; Galindo, Alberto; Villalaín, Cecilia; Herraı̀z, Ignacio; Sileo, Filomena Giulia; Quintero, Olivia Mendez; Salsi, G.; Bracalente, Gabriella; Morales‐Roselló, José; Loscalzo, Gabriela; Pellegrino, Marcella; Santis, Marco De; Lanzone, Antonio; Parazzini, Cecilia; Lanna, M.; Ormitti, Francesca; Toni, Francesco; Murru, Flora Maria; Maurizio, Marco Di; Trincia, Elena; García, Rafael Clua; Petersen, Olav Bjørn; Neerup, Lisa; Sandager, Puk; Prefumo, Federico; Pinelli, Lorenzo; Mappa, Ilenia; Martellucci, Cecilia Acuti; Flacco, Maria Elena; Manzoli, Lamberto; Giangiordano, Ilaria; Nappi, Luigi; Scambia, Giovanni; Berghella, Vincenzo; D’Antonio, F.

doi:10.1016/j.ejogrb.2021.10.014

Cited by 16 publications

(11 citation statements)

References 27 publications

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“…There are many challenges in fetal ultrasound diagnosis, which can be specifically divided as follows: 1) many structural abnormalities may be discovered in the middle and late stages; 2) some phenotypes, such as intellectual disability, cannot be expressed during the fetal period; 3) reduced fetal movement and other functional phenotypes have great limitations; 4) the prenatal phenotypes of chromosomal and other genetic disorders were heterogeneous and nonspecific in clinical descriptions, even in fetuses. We believe that fetal magnetic resonance imaging plays a good auxiliary role in the detection of nervous system abnormalities (Di Mascio et al, 2021;Papaioannou et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Cai¹,

Fu²,

Xu³

et al. 2021

Front. Genet.

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Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported. A retrospective analysis of 6,200 pregnant women who received invasive prenatal diagnosis at Fujian Provincial Maternal and Child Health Hospital between October 2016 and January 2021 was performed. Amniotic fluid or umbilical cord blood was extracted for karyotyping and single nucleotide polymorphism array analysis. Single nucleotide polymorphism array analysis revealed six fetuses with copy number variant changes in the 17p11.2 region. Among them, one had a copy number variant microdeletion in the 17p11.2 region, which was pathogenically analyzed and diagnosed as Smith-Magenis syndrome. Five fetuses had copy number variant microduplications in the 17p11.2 region, which were pathogenically analyzed and diagnosed as Potocki-Lupski syndrome. The prenatal ultrasound phenotypes of the six fetuses were varied. The parents of two fetuses with Potocki-Lupski syndrome refused verification. Smith-Magenis syndrome in one fetus and Potocki-Lupski in another were confirmed as de novo. Potocki-Lupski syndrome in two fetuses was confirmed to be from maternal inheritance. The prenatal ultrasound phenotypes of Smith-Magenis syndrome and Potocki-Lupski syndrome in fetuses vary; single nucleotide polymorphism array analysis is a powerful diagnostic tool for these diseases. The ultrasonic phenotypes of these cases may enrich the clinical database.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Cai¹,

Fu²,

Xu³

et al. 2021

Front. Genet.

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“…Infections, genetic conditions, additional CNS and extra-CNS abnormalities should be ruled out. When VM is not progressive or associated with other CNS and extra-CNS anomalies, it is referred to as isolated, and the prognosis is related to the size of the ventricles [ 39 , 40 ]. An MRI should be included in the prenatal investigations, especially when the ventricles have a moderate or a severe enlargement [ 11 , 40 ].…”

Section: Fetal Cns Abnormalitiesmentioning

confidence: 99%

“…When VM is not progressive or associated with other CNS and extra-CNS anomalies, it is referred to as isolated, and the prognosis is related to the size of the ventricles [ 39 , 40 ]. An MRI should be included in the prenatal investigations, especially when the ventricles have a moderate or a severe enlargement [ 11 , 40 ]. In a recent multicenter study, fetal MRI detected additional abnormalities in 18% of the fetuses with isolated severe VM on neurosonography, with cortical malformations being the most significant finding [ 40 ].…”

Section: Fetal Cns Abnormalitiesmentioning

confidence: 99%

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Scelsa

2022

Diagnostics

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Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus.

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“…More importantly, few years later an English multicenter study reported that fetal MRI had a significantly higher diagnostic accuracy for associated anomalies compared with ultrasound (93% vs. 68%), and this was associated to a “significant or major” influence on management in about one third of the cases 10 . Conversely, the European NeuroSonography working group has recently demonstrated that when performing neurosonography according to ISUOG guidelines, the additional value of fetal MRI is largely lower than previously reported in literature, although some dynamic conditions such as neuronal migration disorders, cortical anomalies or acquired lesions might still benefit from MRI evaluation 15–19 …”

mentioning

confidence: 94%

“…10 Conversely, the European NeuroSonography working group has recently demonstrated that when performing neurosonography according to ISUOG guidelines, the additional value of fetal MRI is largely lower than previously reported in literature, although some dynamic conditions such as neuronal migration disorders, cortical anomalies or acquired lesions might still benefit from MRI evaluation. [15][16][17][18][19] For all these reasons, the comparison between ultrasound and fetal MRI has often assumed the connotations of a never-ending conflict that might affect the primary of prenatal diagnosis and fetal medicine. It is well-known, indeed, that the aim of prenatal imaging techniques should be to complementary work together to characterize fetal anomalies to the best of our possibilities.…”

mentioning

confidence: 99%

The combined use of ultrasound with magnetic resonance in the study of fetal brain: From the diagnosis towards the prognosis and beyond!

Rizzo

Mappa

D’Antonio

et al. 2022

J of Clinical Ultrasound

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Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study

Cited by 16 publications

References 27 publications

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

The combined use of ultrasound with magnetic resonance in the study of fetal brain: From the diagnosis towards the prognosis and beyond!

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