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Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

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Abstract

Background

The aim of the present study is to evaluate the role of COL4A1/A2 mutations in the etiology of intraventricular hemorrhage (IVH) detected in-utero.

Methods

The data of four cases with fetal IVH were analyzed retrospectively. Antenatal risk factors, clinical features, postnatal outcome, and the presence of COL4A1/A2 mutations were evaluated.

Results

Eight cases of fetal IVH were diagnosed between 2005 and 2012 in Erciyes University. Of these, four were eligible for genetic analysis. Mean gestational age at diagnosis was 30 weeks 5 day (min–max: 28–34 weeks); two cases had grade III hemorrhage and two cases had grade IV hemorrhage according to fetal magnetic resonance imaging. Three cases had severe neurodevelopmental delay and one case had mild deficit. In all cases, postnatal evaluation revealed no underlying cause, and no retinal hemorrhagia and hematuria were detected. The mean postnatal follow-up was 19 months, and no recurrent hemorrhages and porencephalic cyst formation were observed. The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in the four patients.

Conclusion

Our data showed that fetal intraventricular hemorrhage is not associated with COL4A1 and COL4A2 mutations in the absence of porencephaly, recurrent hemorrhage, and other organ bleeding.

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Conflict of interest

The authors of this paper declare no conflict of interest.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Erciyes University, Faculty of Medicine, Gevher Nesibe Hospital, 38039, Kayseri, Turkey

    Mehmet Serdar Kutuk & Mehmet Dolanbay

  2. Department of Genetics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

    Burhan Balta & Munis Dundar

  3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

    Hirofumi Kodera, Naomichi Matsumoto & Hirotomo Saitsu

  4. Department of Pediatric Radiology, Erciyes University, Faculty of Medicine, Kayseri, Turkey

    Selim Doganay

  5. Department of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey

    Mehmet Canpolat

  6. Department of Pediatric Hematology, Erciyes University, Faculty of Medicine, Kayseri, Turkey

    Ekrem Unal

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  1. Mehmet Serdar Kutuk
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  2. Burhan Balta
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  3. Hirofumi Kodera
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  4. Naomichi Matsumoto
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  5. Hirotomo Saitsu
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  6. Selim Doganay
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  7. Mehmet Canpolat
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  8. Mehmet Dolanbay
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  9. Ekrem Unal
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  10. Munis Dundar
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Correspondence to Mehmet Serdar Kutuk.

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Kutuk, M.S., Balta, B., Kodera, H. et al. Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?. Childs Nerv Syst 30, 419–424 (2014). https://doi.org/10.1007/s00381-013-2338-7

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  • DOI: https://doi.org/10.1007/s00381-013-2338-7

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