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ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA

C Stoll, Y Alembik, B Dott

    Genetic Counseling (Geneva, Switzerland)
    |December 3, 2015
    PubMed

    Insights

    Congenital diaphragmatic hernia (CDH) is frequently associated with other major anomalies, affecting nearly two-thirds of cases. Thorough investigation and screening for these associated conditions are crucial for affected infants and fetuses.

    Area of Science:

    • Medical Genetics
    • Pediatric Surgery
    • Reproductive Medicine

    Background:

    • Congenital diaphragmatic hernia (CDH) is a serious birth defect.
    • CDH often occurs with other congenital anomalies, impacting patient outcomes.
    • Understanding the spectrum of associated anomalies is vital for comprehensive care.

    Purpose of the Study:

    • To determine the prevalence and types of anomalies associated with CDH.
    • To identify patterns of malformations in a large, population-based cohort.
    • To inform clinical evaluation and management strategies for CDH.

    Main Methods:

    • Population-based registry of congenital anomalies.
    • Analysis of live births, stillbirths, and terminations over 29 years.
    • Inclusion of 386,088 pregnancies with known outcomes.

    Main Results:

    • 139 cases of CDH identified (prevalence 3.60/10,000 births).
    • 61.2% of CDH cases had associated major anomalies.
    • Common anomalies included cardiovascular (27.5%), urogenital (17.6%), and musculoskeletal (15.0%) system defects; 18.0% had chromosomal abnormalities.

    Conclusions:

    • A high proportion of CDH cases (nearly two-thirds) are associated with other anomalies.
    • Specific patterns of anomalies exist, necessitating comprehensive evaluation.
    • Routine screening for associated anomalies in CDH cases is recommended.

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