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Central nervous system anomalies

L Csabay1, I Szabó, C Papp

  • 1Department of Obstetrics and Gynecology, Semmelweis University Medical School, Budapest, Hungary.

Annals of the New York Academy of Sciences
|July 21, 1998
PubMed
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This review covers common congenital central nervous system (CNS) anomalies like neural tube defects and microcephaly. It highlights complementary diagnostic tools including maternal serum markers, ultrasound, and invasive techniques for early detection.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Medical Imaging

Background:

  • Congenital anomalies of the central nervous system (CNS) represent a significant global health concern.
  • Early and accurate diagnosis is crucial for effective management and improved outcomes.

Purpose of the Study:

  • To review the most common congenital anomalies affecting the CNS.
  • To emphasize the importance and interplay of various diagnostic modalities.

Main Methods:

  • Literature review of common CNS congenital anomalies.
  • Discussion of diagnostic tools: maternal serum biochemical markers, ultrasound screening, and invasive techniques.

Main Results:

  • Identified common CNS anomalies include neural tube defects (NTDs), ventriculomegaly/holoprosencephaly, hydranencephaly, holoprosencephaly sequence, iniencephaly, and microcephaly.

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  • Diagnostic methods are complementary, offering a multi-faceted approach to detection.

    • Conclusions:

    • Comprehensive understanding of CNS anomalies requires integrating information from various diagnostic tools.
    • Timely diagnosis through combined methods can significantly impact patient care and prognosis.