Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication

Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication

We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a do...

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Main Authors: Olivier Leroij, Lennart Van der Veeken, Bettina Blaumeiser, Katrien Janssens
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Reproductive Medicine
Subjects:
dorsal dermal sinus
Arnold–Chiari anomaly
3q23q27 duplication
mosaic
marker chromosome
Online Access:https://www.mdpi.com/2673-3897/2/3/12
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spelling doaj-6e6b137d6dca4dd0b832f4d17012f1c02021-09-26T01:20:00ZengMDPI AGReproductive Medicine2673-38972021-07-0121211812410.3390/reprodmed2030012Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q DuplicationOlivier Leroij0Lennart Van der Veeken1Bettina Blaumeiser2Katrien Janssens3Faculty of Medicine, University of Antwerp, 2610 Wilrijk, BelgiumDepartment of Obstetrics and Gynaecology, University Hospital Antwerp, 2650 Edegem, BelgiumDepartment of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, BelgiumDepartment of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, BelgiumWe present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.https://www.mdpi.com/2673-3897/2/3/12dorsal dermal sinusArnold–Chiari anomaly3q23q27 duplicationmosaicmarker chromosome
collection DOAJ
language English
format Article
sources DOAJ
author Olivier Leroij
Lennart Van der Veeken
Bettina Blaumeiser
Katrien Janssens
spellingShingle Olivier Leroij
Lennart Van der Veeken
Bettina Blaumeiser
Katrien Janssens
Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
Reproductive Medicine
dorsal dermal sinus
Arnold–Chiari anomaly
3q23q27 duplication
mosaic
marker chromosome
author_facet Olivier Leroij
Lennart Van der Veeken
Bettina Blaumeiser
Katrien Janssens
author_sort Olivier Leroij
title Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
title_short Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
title_full Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
title_fullStr Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
title_full_unstemmed Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
title_sort pushing the limits of prenatal ultrasound: a case of dorsal dermal sinus associated with an overt arnold–chiari malformation and a 3q duplication
publisher MDPI AG
series Reproductive Medicine
issn 2673-3897
publishDate 2021-07-01
description We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.
topic dorsal dermal sinus
Arnold–Chiari anomaly
3q23q27 duplication
mosaic
marker chromosome
url https://www.mdpi.com/2673-3897/2/3/12
work_keys_str_mv AT olivierleroij pushingthelimitsofprenatalultrasoundacaseofdorsaldermalsinusassociatedwithanovertarnoldchiarimalformationanda3qduplication
AT lennartvanderveeken pushingthelimitsofprenatalultrasoundacaseofdorsaldermalsinusassociatedwithanovertarnoldchiarimalformationanda3qduplication
AT bettinablaumeiser pushingthelimitsofprenatalultrasoundacaseofdorsaldermalsinusassociatedwithanovertarnoldchiarimalformationanda3qduplication
AT katrienjanssens pushingthelimitsofprenatalultrasoundacaseofdorsaldermalsinusassociatedwithanovertarnoldchiarimalformationanda3qduplication
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