Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN
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Published on: August 25, 2014
Lucie Guilbaud1, Elena Carreras2, Catherine Garel3
1Fetal Medicine Department, Armand Trousseau University Hospital, Spin@ Reference Center, Sorbonne University, Paris, France.
Insights
Open dysraphisms like myelomeningocele are rare but severe birth defects. This study proposes a standardized ultrasound protocol for assessing isolated cases, aiding prognosis and prenatal management decisions.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Pediatric Surgery
Background:
- Open dysraphisms, including myelomeningocele and myeloschisis, are rare congenital conditions.
- These conditions carry significant risks of severe lifelong disabilities affecting motor function, sensation, sphincter control, and potentially cognitive development.
- Prenatal diagnosis in Europe is high, necessitating accurate prognostic tools.
Purpose of the Study:
- To propose a standardized protocol for ultrasound assessment of fetuses diagnosed with isolated open dysraphism.
- To establish reliable biomarkers for personalized prognosis in affected fetuses.
- To facilitate informed parental decision-making regarding prenatal management options.
Main Methods:
- Detailed fetal morphologic assessment to confirm diagnosis and rule out associated anomalies.
- Genetic assessment in cases of suspected fetal open dysraphism.
- Prognostic evaluation based on fetal imaging: lesion level, presence of a sac, intracranial anomalies, and lower extremity assessment.
Main Results:
- The study outlines specific imaging biomarkers for prognosis in isolated open dysraphism.
- A standardized assessment protocol is presented to ensure consistent evaluation.
- The proposed method aims to enable comparison with benchmark data and surgical innovation assessment.
Conclusions:
- Standardized prenatal assessment is crucial for accurate prognosis and outcome comparison in open dysraphisms.
- The proposed ultrasound protocol provides a framework for evaluating isolated fetal open dysraphism.
- This standardization supports informed parental counseling and advances research in prenatal management and surgical interventions.
Abstract:
Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.
