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Impact of antenatal diagnosis on incidence and prognosis in abdominal wall defects

R Fisher1, A Attah, A Partington

  • 1South East Thames Congenital Malformation Registry, Children's Hospital, London, England.

Insights

Gastroschisis and exomphalos are fetal abdominal wall defects. While gastroschisis has a high survival rate, exomphalos is linked to severe anomalies, impacting prognosis.

Area of Science:

  • Perinatal Medicine
  • Pediatric Surgery
  • Medical Genetics

Background:

  • Fetal abdominal wall defects, including gastroschisis and exomphalos, are significant congenital anomalies.
  • Accurate diagnosis and prognostic assessment are crucial for effective management and parental counseling.

Purpose of the Study:

  • To analyze the incidence and outcomes of fetal abdominal wall defects.
  • To compare the prognoses of gastroschisis and exomphalos.
  • To identify factors influencing survival rates in affected neonates.

Main Methods:

  • Retrospective review of cases from the Congenital Malformation Registry in South East Thames.
  • Data collection over a 24-month period.
  • Analysis of associated anomalies, chromosomal defects, and survival rates.

Main Results:

  • Eighty cases were observed: 40 gastroschisis and 40 exomphalos.
  • Live-born infants with gastroschisis showed few associated anomalies and an 83% survival rate.
  • Exomphalos cases had a higher rate of life-threatening anomalies and chromosomal defects, with many terminated prenatally.
  • Excluding cases with severe chromosomal anomalies, the 1-year survival rate for liveborn exomphalos infants was approximately 80%.

Conclusions:

  • Gastroschisis generally carries a favorable prognosis in live-born infants without significant associated anomalies.
  • Exomphalos prognosis is highly dependent on the presence of associated life-threatening anomalies and chromosomal defects.
  • Prenatal ultrasonography identification of these defects, coupled with genetic assessment, aids in determining fetal prognosis.

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