Medical History and Genetic Testing

To evaluate a child for birth defects, healthcare providers not only look at a child's newborn screening test results, but also look at the prenatal history of the mother during the pregnancy with the child, the child's neonatal and pediatric history, and the results of any genetic testing the child has had.

  • Prenatal history
    Certain factors during pregnancy can affect the development of the baby. To assess these, various information is looked at, including the following:
    • family medical history
    • results of any prenatal testing
    • personal medical history of the mother (her general health and any health condition she may have)
    • any medications used during the pregnancy
    • histories of past pregnancies
    • vaccination status
    • infection screening
    • diet
    • vitamin use
    • smoking or other recreational drug use
    • exposure to other harmful substances
  • Neonatal history: Assessments for newborn babies
    Each newborn baby is carefully checked at birth for signs of problems or complications. A complete physical assessment will be performed that includes every body system. Throughout the hospital stay, physicians, nurses, and other healthcare providers continually assess a baby for changes in health and for signs of problems or illness. These include the following:
    • Apgar scoring (scores heart and respiratory rates, muscle tone, reflexes and color)
      • Activity; muscle tone
      • Pulse rate
      • Grimace; reflex irritability
      • Appearance; skin color
      • Respiration
    • birthweight
    • measurements such as head circumference, abdominal circumference and length
    • full physical examination
    • hearing screening
    • State newborn screening
    • gestational assessment (determining whether a baby was born premature by looking at both physical maturity, neuromuscular maturity)
  • Pediatric history
    Children are evaluated for their "development milestones" to determine whether their development up to the current point in time has been normal. There are certain abilities and behaviors that are present at certain ages in human development. To evaluate these milestones, there are a number of factors that are examined, including the following:
    • rate of growth
    • which various activities the child could do at 6 months versus 12 months, etc.
    • the reflexes a child has and when he/she developed them
    • the behaviors a child has and when he/she developed them
    • development of the baby's speech (how many words at what ages)
    • the child's level of understanding and how he/she reacts to various environmental stimuli such as responding to a soothing voice versus a loud noise

    Parents may also note that the child being evaluated for a birth defect may seem different than other children in the family (i.e. one child walked and talked earlier than the other).

  • Genetic testing
    Genetic testing is available to test for a number of different types of chromosome abnormalities and single gene defects. Results of these studies are important for the evaluation of a child for birth defects and their causes.

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Online Resources of Medical Genetics

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