Prenatal diagnosis and postnatal outcome of closed spinal dysraphism

Author:

Bedei Ivonne123ORCID,Krispin Eyal4ORCID,Sanz Cortes Magdalena25ORCID,Lombaard Hennie5,Zemet Roni6,Whitehead William E.7,Belfort Michael A.25,Huisman Thierry A. G. M.3

Affiliation:

1. Department of Prenatal Diagnosis and Fetal Therapy Justus‐Liebig University Giessen Germany

2. Baylor College of Medicine Department of Obstetrics and Gynecology Division of Fetal Therapy and Surgery and Texas Children's Hospital Fetal Center Houston Texas USA

3. Edward B. Singleton Department of Radiology Texas Children's Hospital and Baylor College of Medicine Houston Texas USA

4. Boston Children's Hospital Brigham and Women's Hospital Beth Israel Deacones Medical Center Harvard Medical School Boston Massachusetts USA

5. Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Hospital Pavilion for Women Houston Texas USA

6. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

7. Department of Neurosurgery Texas Children's Hospital & Baylor College of Medicine Houston Texas USA

Abstract

AbstractObjectiveTo evaluate the prenatal diagnosis of closed dysraphism (CD) and its correlation with postnatal findings and neonatal adverse outcomes.MethodsA retrospective cohort study including pregnancies diagsnosed with fetal CD by prenatal ultrasound (US) and magnetic resonance imaging (MRI) at a single tertiary center between September 2011 and July 2021.ResultsCD was diagnosed prenatally and confirmed postnatally in 12 fetuses. The mean gestational age of prenatal imaging was 24.2 weeks, in 17% the head circumference was ≤fifth percentile and in 25% the cerebellar diameter was ≤fifth percentile. US findings included banana sign in 17%, and lemon sign in 33%. On MRI, posterior fossa anomalies were seen in 33% of cases, with hindbrain herniation below the foramen magnum in two cases. Mean clivus‐supraocciput angle (CSA) was 74°. Additional anomalies outside the CNS were observed in 50%. Abnormal foot position was demonstrated prenatally in 17%. Neurogenic bladder was present in 90% of patients after birth.ConclusionArnold Chiari II malformation and impaired motor function can be present on prenatal imaging of fetuses with CD and may be associated with a specific type of CD. Prenatal distinction of CD can be challenging. Associated extra CNS anomalies are frequent and the rate of neurogenic urinary tract dysfunction is high.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

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