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Related Concept Videos

Fetal Circulation01:14

Fetal Circulation

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Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
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Related Experiment Video

Updated: Jan 22, 2026

Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
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Fetal and neonatal neurogenetics.

Anna C Jansen1, Kathelijn Keymolen2

  • 1Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussel, Belgium.

Handbook of Clinical Neurology
|July 21, 2019
PubMed
Summary

This chapter details neurogenetic disorders in fetuses and newborns, covering causes, clinical signs, and diagnostic methods. It provides a workflow to aid clinicians in identifying and managing these complex developmental conditions.

Keywords:
Agenesis of the corpus callosumBrain malformationsCongenital hydrocephalusCounselingHoloprosencephalyMacrocephalyMicrocephalyNeural tube defectsNeurogeneticsNeuronal migration disordersPosterior fossa anomalies

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Clinical Genetics

Background:

  • Disorders of the developing nervous system stem from genetic, metabolic, vascular, infectious, or traumatic causes.
  • These conditions manifest as congenital malformations or acquired injuries affecting fetal and neonatal brain development.
  • Early identification and diagnosis are crucial for timely intervention and management.

Purpose of the Study:

  • To outline the clinical presentation and diagnostic workup of neurogenetic disorders in the fetal and neonatal periods.
  • To discuss various genetic techniques and their utility in diagnosing these conditions.
  • To provide a practical workflow for clinicians encountering suspected neurogenetic disorders.

Main Methods:

  • Review of clinical presentations and diagnostic tools for neurogenetic disorders.
  • Discussion of genetic techniques, including their strengths and limitations.
  • Inclusion of case reports to illustrate diagnostic clues from history and examination.

Main Results:

  • Frequent clinical presentations are summarized.
  • Diagnostic approaches, including genetic testing, are detailed.
  • Implications of molecular genetic diagnosis for patients and families are addressed.

Conclusions:

  • A comprehensive understanding of clinical signs and diagnostic tools is essential.
  • Genetic techniques play a pivotal role in diagnosing neurogenetic disorders.
  • A structured workflow can assist clinicians in managing these complex cases.