Unveiling Patterns in Fetal Malformations Insights from a Multi Center Observational Study

Introduction

Main Findings and Key Highlights

  • Study Overview:
    Conducted from 2016 to 2019 across multiple fetal medicine units, this prospective observational study screened 20,225 pregnant women via anatomical ultrasound scans.
  • Prevalence:
    • 183 cases (0.9%) had fetal congenital anomalies.
    • The most frequent anomalies were found in the nervous system (34.4%), followed by renal/genital (24.5%), GIT/anterior abdominal wall (20.2%), and cardiac (6.5%).
  • Maternal and Environmental Risk Factors:
    • Consanguinity was present in 31.1% of cases most notably in thoracic (55.6%) and skeletal (45%) anomalies.
    • Lack of folic acid intake was significantly associated with spinal and cephalic anomalies.
    • Urban residence showed higher incidences of thoracic and abdominal anomalies, while rural areas had more cephalic and cardiac defects.
  • Gestational Age and Survival:
    • Median gestational age at diagnosis was 24 weeks.
    • Survival varied by anomaly type: Skeletal anomalies had the highest 1 week survival rate (77.8%), while thoracic anomalies had the lowest (12.5%).
  • Conclusion:
    The study reinforces the importance of early prenatal screening and routine anomaly scans, especially for high-risk pregnancies.

Public Health Implication

Further Reading and Resources

Call to Action

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