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KIVO Med

Congenital malformations: causes, examples, and prenatal diagnosis

Understand how congenital malformations arise, recognize their major categories, and learn how they can be detected before birth.

  • 44 explained questions
  • 39 flashcards
  • 152 estimated course minutes

Updated

What you will learn

  • Define a congenital malformation and distinguish being congenital from being hereditary.
  • Classify genetic and environmental causes by mechanism and timing of exposure.
  • Recognize major chromosomal, neurological, cardiac, visceral, genital, and limb malformations.
  • Compare non-invasive, invasive, and preimplantation prenatal diagnostic methods.

Course outline

  1. Definition: when development deviates

    An overview of congenital malformations, their origins, and how they can be detected before birth.

    7 min

  2. Definition and frequency of congenital malformations

    Define a congenital abnormality and place known and unknown causes in context.

    10 min

  3. Genetic causes: mutations and inheritance

    Understand DNA changes and the main inheritance patterns.

    12 min

  4. Chromosomal aberrations

    Distinguish chromosomal abnormalities of structure from those of number.

    10 min

  5. Maternal factors and timing of the insult

    Relate maternal health and exposure timing to the severity of the abnormality.

    10 min

  6. Infectious and physical agents

    Identify infections and physical exposures that can disturb development.

    13 min

  7. Drugs, toxins, mechanical constraints, and combined causes

    Relate each exposure category to its characteristic consequences.

    15 min

  8. Chromosomal examples: trisomy 21, Turner, and Klinefelter

    Recognize three chromosomal syndromes and their main illustrated features.

    13 min

  9. Neurological, cardiac, and facial malformations

    Relate neural-tube, heart, and facial abnormalities to their clinical illustrations.

    13 min

  10. Digestive and urinary malformations

    Read the main illustrated abnormalities of the esophagus and kidneys.

    11 min

  11. Genital and limb malformations

    Recognize uterine variants, testicular abnormalities, and limb defects.

    16 min

  12. Non-invasive prenatal diagnosis

    Know the roles of ultrasound, fetal MRI, and serum markers.

    10 min

  13. Invasive and preimplantation diagnosis

    Distinguish invasive sampling from genetic testing before embryo transfer.

    12 min

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