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Amnion Rupture Sequence.

Nicolae Gică1,2, Florina Mihaela Nedelea2, Livia Mihaela Apostol2

  • 1Gynecology Department, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Reports (MDPI)
|July 29, 2025
PubMed
Summary

Early amnion rupture sequence can cause severe fetal anomalies like encephalocele. This case highlights diagnostic challenges and the need for advanced imaging in identifying this rare condition.

Keywords:
amnion rupture sequenceencephaloceleneural tube defect

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Area of Science:

  • Reproductive Medicine
  • Developmental Biology
  • Medical Genetics

Background:

  • Amnion rupture sequence (ARS) is a rare condition causing fetal anomalies due to disruption of embryonic development.
  • ARS prevalence is approximately 1.16 per 10,000 live births.
  • Early ARS can lead to complex craniofacial and abdominal defects.

Purpose of the Study:

  • To explore an uncommon case of early ARS presenting with fetal encephalocele in the first trimester.
  • To discuss the diagnostic challenges and importance of advanced imaging in ARS.
  • To correlate clinical findings with genetic and anatomopathological results.

Main Methods:

  • Case study of a patient with suspected early ARS.
  • Advanced imaging techniques for fetal anomaly detection.
  • Genetic testing to rule out chromosomal abnormalities.
  • Anatomopathological examination for confirmation.

Main Results:

  • Early ARS was suspected in the first trimester, leading to fetal encephalocele.
  • Genetic testing yielded normal results, supporting ARS as the cause.
  • Anatomopathological findings confirmed the diagnosis.
  • The patient opted for pregnancy termination.

Conclusions:

  • Early ARS can manifest with significant fetal anomalies, including encephalocele.
  • Timely diagnosis is crucial and relies on advanced imaging.
  • Normal genetic testing can support ARS diagnosis when anomalies are present.