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Body Stalk Anomaly

Nicolae Gică1,2, Livia Mihaela Apostol2, Iulia Huluță1,2

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

Diagnostics (Basel, Switzerland)
|March 13, 2024
PubMed

Insights

Body stalk anomaly is a rare and severe congenital defect incompatible with life. Early diagnosis during the first trimester is crucial for informed prenatal care decisions.

Area of Science:

  • Embryology
  • Medical Genetics
  • Prenatal Diagnosis

Background:

  • Abdominal wall defects (AWDs) include gastroschisis, omphalocele, and body stalk anomaly (BSA).
  • BSA is the most severe form, characterized by significant abdominal defects, limb and spinal anomalies, and a short or absent umbilical cord.
  • Potential causes involve early amnion rupture, vascular disruptions, or abnormal embryonic folding.

Purpose of the Study:

  • To present a case of a rare body stalk anomaly diagnosed in the first trimester.
  • To highlight the importance of early identification and understanding the clinical implications of BSA.

Main Methods:

  • Case report of a rare congenital anomaly.
  • First-trimester prenatal diagnosis.
  • Anatomopathological examination for confirmation.

Main Results:

  • Diagnosis of body stalk anomaly established in the first trimester.
  • Patient opted for pregnancy termination.
  • Anatomopathological findings confirmed the diagnosis.

Conclusions:

  • Body stalk anomaly is a rare, severe congenital defect incompatible with life.
  • Early prenatal diagnosis is essential for informed decision-making in pregnancy management.
  • Understanding the clinical spectrum of abdominal wall defects is critical for prenatal care.

Keywords:
abdominal defectamniotic rupturebody stalk anomaly

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