Medical History and Genetic Testing

To evaluate a child for birth defects, healthcare providers look at a child's newborn screening test results, and the prenatal history of the mother during the pregnancy. The child's neonatal and pediatric history, and the results of any genetic testing are also examined thoroughly.

Prenatal history

Certain factors during pregnancy can affect the development of the baby, including:

  • Family medical history
  • Prenatal testing results
  • Mother's medical history (mother's general health and any existing health conditions)
  • 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 problems or complications. A complete assessment will be performed of every body system. Throughout the hospital stay, physicians, nurses and other healthcare providers will check the baby for changes to health, problems or illnesses. These include:

  • Apgar scoring (scores heart and respiratory rates, muscle tone, reflexes and color)
  • Activity and muscle tone
  • Pulse rate
  • Reflex irritability
  • Appearance and skin color
  • Respiration
  • Birth weight
  • Head circumference, abdominal circumference, length and other body measurements
  • Full physical exam
  • Hearing test
  • State newborn screening
  • Infant maturity (determining whether a baby was born premature by looking at both physical maturity, neuromuscular maturity)

Pediatric history

Children are evaluated by their development milestones, determining that the infant's development is healthy. To evaluate these milestones, there are a number of factors that are examined, including:

  • Growth rate
  • Child's activity level at 6 months compared with 12 months, etc.
  • Quality of reflexes and a when a child developed them
  • Behaviors of a child and when they developed
  • Child's speech (how many words at what ages)
  • Level of understanding, reacting to various environmental stimuli, such as responding to a soothing voice or a loud noise

Parents may notice the child being evaluated may seem different than other children in the family, e.g., one child walked and talked earlier than the other.

Genetic testing

Genetic testing is available to test 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.