Fetal intracerebral hemorrhage and <i><scp>COL4A1</scp></i> mutation: promise and uncertainty

Garel, Catherine; Rosenblatt, Jonathan; Moutard, Marie‐Laure; Héron, Delphine; Gelot, Antoinette; Gonzalès, Marie; Miné, Manuèle; Jouannic, Jean‐Marie

doi:10.1002/uog.12268

Cited by 25 publications

(17 citation statements)

References 7 publications

(17 reference statements)

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“…9 In most cases of COL4A1-related ICH of prenatal onset the diagnosis was made postnatally, but prenatal diagnosis of this condition has been recently reported in two instances. 2,3 The two cases reported here show that the COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at US examination. Conversely, the presence of a fetal cataract should lead to a thorough search of the family history for stroke, migraine and cataract or other anterior segment defects, as well as US examination for neurological abnormalities.…”

Section: Discussionmentioning

confidence: 84%

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Fetal intracerebral hemorrhage and cataract: think COL4A1

et al. 2013

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The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination.

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Section: Discussionmentioning

confidence: 84%

“…1 Recently, COL4A1 mutations have also been identified prenatally in fetuses with intracranial hemorrhage (ICH). 2,3 The two additional prenatal cases we present suggest that the involvement of COL4A1 may be suspected prenatally in fetuses with ICH associated with cataract.…”

Section: Introductionmentioning

confidence: 85%

Fetal intracerebral hemorrhage and cataract: think COL4A1

et al. 2013

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“…For this, a PubMed search was performed, identifying 27 articles with clinical and mutation data on COL4A1 7,8,[10][11][12][13][14][15][16][17][18][19][20][21][22][29][30][31][32][33][34][35][36][37][38][39][40] and 3 articles with data on COL4A2 mutations. [26][27][28] A total of 137 individuals with a COL4A1 mutation from 60 families and 15 individuals with a COL4A2 mutation from 7 families have been reported.…”

Section: Methodsmentioning

confidence: 99%

“…30 Evidence that this will lead to the prevention of cerebral hemorrhage is lacking, however, and several patients who had lesions established long before delivery have now been reported. 12,15,21,29,36 Further studies Review of the clinical course of individuals with COL4A1 or COL4A2 mutations are needed to determine the follow-up in more detail.…”

Section: Issues In Genetic Counseling and Management Of Affected Famimentioning

confidence: 99%

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Meuwissen

Halley

Smit

et al. 2015

Genetics in Medicine

241

234

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“…Recently, mutations in the COL4A1 gene have been reported to be responsible for IVH [23,24] (fig. 6).…”

Section: Localized Parenchymal Ischemic-hemorrhagic Lesionsmentioning

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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Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

Cited by 25 publications

References 7 publications

Fetal intracerebral hemorrhage and cataract: think COL4A1

Fetal intracerebral hemorrhage and cataract: think COL4A1

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

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