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Eur J Med Genet. 2018 Dec;61(12):773-782. doi: 10.1016/j.ejmg.2018.10.015. Epub 2018 Nov 1.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Author information

1
Department of Obstetrics and Gynecology and SFAPE Société Française pour l'Amélioration des Pratiques Echographiques, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Paris Descartes - Sorbonne Paris Cités, France; EA 7328 FETUS, Université Paris Descartes, France.
2
Pediatric Radiology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
3
Department of Obstetrics and Gynecology, Poissy Saint-Germain Hospital, Poissy, France.
4
Université Paris Descartes - Sorbonne Paris Cités, France; Institut Imagine-INSERM UMR-1163, Embryology and genetics of congenital malformations, France; Pediatric Neurology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
5
Department of Obstetrics and Gynecology, Caen Hospital, Caen Basse Normandie University, France.
6
Clinical Genetic Department, Rennes Hospital, France.
7
Clinical Genetic Department, Grenoble Hospital, France.
8
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
9
Pediatric Radiology, Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
10
Clinical Genetics Department, Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
11
Department of Molecular Genetics, Cochin-Port-Royal Université Paris Descartes - Sorbonne Paris Cités, Paris, France.
12
Fetopathology Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
13
Université Paris Descartes - Sorbonne Paris Cités, France; Pediatric Radiology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
14
Université Paris Descartes - Sorbonne Paris Cités, France; Institut Imagine-INSERM UMR-1163, Embryology and genetics of congenital malformations, France; Pediatric Neurology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address: nadia.bahi-buisson@aphp.fr.

Abstract

OBJECTIVES:

Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and outcome. There is a paucity of comprehensive description detailing the prenatal diagnosis of PNH. The aim of this study is to report neuroimaging features and correlated outcomes in order to delineate the spectrum of prenatally diagnosed PNH.

METHODS:

It was a retrospective study over 15 years in five tertiary centers. All fetuses with prenatally diagnosed PNH were collected. Fetal ultrasound and MRI were reviewed and genetic screening collected. Prenatal findings were analyzed in correlation to fetopathological analyses and post-natal follow up.

RESULTS:

Thirty fetuses (22 females and 8 males) with PNH were identified. The two major ultrasound signs were ventriculomegaly associated with dysmorphic frontal horns (60%) and posterior fossa anomalies (73.3%). On MRI, two groups of PNH were identified: the contiguous and diffuse PNH (n = 15, 50%), often associated with megacisterna magna, and the non-diffuse, either anterior, posterior or unilateral PNH. FLNA mutations were found in 6/11 cases with diffuse PNH. Additional cortical malformations were exclusively observed in non diffuse PNH (9/15; 60%). Twenty-four pregnancies (80%) were terminated. Six children aged 6 months to 5 years are alive. Five have normal neurodevelopment (all had diffuse PNH) whereas one case with non diffuse PNH has developmental delay and epilepsy.

CONCLUSION:

PNH is heterogeneous but patients with diffuse PNH are a common subgroup with specific findings on prenatal imaging and implications for prenatal counseling.

KEYWORDS:

Fetal MRI; Fetal ultrasound; Periventricular nodular heterotopia; Prenatal

PMID:
30391507
DOI:
10.1016/j.ejmg.2018.10.015
[Indexed for MEDLINE]

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