Isolated Absence of Septum Pellucidum: Prenatal Diagnosis and Outcome

García-Arreza, Aida; García‐Díaz, Lutgardo; Fajardo, Manuel; Carreto, Práxedes; Antiñolo, Guillermo

doi:10.1159/000338009

Cited by 27 publications

(18 citation statements)

References 8 publications

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“…Involvement of the optic tract carries a much poorer prognosis than endocrine dysfunction. Children with isolated ASP have a favorable neurological outcome [19,20], but 18% of fetuses diagnosed with ASP are at risk for SOD. Therefore, counseling the parents implies taking into account this possibility, explaining the treatment required by endocrine deficiencies, and the lack of therapeutic possibility in case of optic atrophy.…”

Section: Absence Of Septum Pellucidummentioning

confidence: 99%

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Garel¹,

Moutard

2014

Fetal Diagn Ther

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The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. For each cerebral defect, the main imaging findings are reminded, certain differential diagnoses are discussed and prenatal diagnostic accuracy is analyzed with emphasis on uncertainties encountered during analysis of ultrasound or magnetic resonance images. Detecting cerebral lesions in fetuses requires rapid counseling by neuropediatricians. Keeping in mind that the prenatal diagnostic accuracy is not 100%, the neuropediatricians have to answer the parents' questions regarding the outcome of the unborn child as well as the risk of recurrence for future pregnancies. This article is based on the authors' large experience in both prenatal imaging and neurocounseling. The frequently asked questions are set up. Answers are provided, underscoring the importance of an appropriate description of the cerebral defect, and therefore the pivotal role of prenatal imaging. However, prenatal neurocounseling remains challenging and the parents must be aware of uncertainties regarding both diagnostic accuracy and prognostic evaluation.

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Section: Absence Of Septum Pellucidummentioning

confidence: 99%

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Garel¹,

Moutard

2014

Fetal Diagn Ther

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“…There are few reports on ASP diagnosed in utero . Their diagnoses are generally performed during the third‐trimester US . In two of our cases and in Pilliod's series, diagnoses were made earlier during the morphological US.…”

Section: Discussionmentioning

confidence: 57%

“…Academic societies recommend visualizing the anterior complex during the morphological US examination, which is usually performed around 22 WG in France. There are few reports on ASP diagnosed in utero . Their diagnoses are generally performed during the third‐trimester US .…”

Section: Discussionmentioning

confidence: 99%

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Antenatal diagnosis of absence of septum pellucidum

M’Barek

Tassin

Guët

et al. 2020

Clinical Case Reports

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The absence of septum pellucidum (ASP) is a rare disease, which affects the structure of the brain. It is either isolated or associated with various congenital brain malformations. The diagnosis of ASP can be performed by second‐trimester ultrasound. When the ASP is isolated, prenatal counseling is optimistic regarding neurological outcome, but there is a 20% risk of septo‐optic dysplasia in the neonate.

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“…L'agénésie du SP congénitale isolée est par contre très rare 2 à 3 cas pour 100 000 naissances, un cas a été décrit en Espagne par l'équipe de Garcia-Arrez avec une confirmation du diagnostic et un follow-up post natal révélant un bon pronostic jusqu'à 18 mois [3]. Notons qu'une équipe italienne quant à elle a décrit un cas d'ASP isolée dont le diagnostic a été confirmé à l'autopsie les parents ayant décidé d'interromprela grossesse [4].…”

Section: Discussionunclassified