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Health History and Genetic Testing

To evaluate your child for birth defects, healthcare providers look at your child’s newborn screening test results. They also look at your prenatal history, the child’s health history, and the results of any of the child’s genetic testing. Below are common tests.

Prenatal history

Certain things that happen during your pregnancy can affect how your baby develops. The healthcare provider will look at:

  • Your family health history

  • Results of any prenatal testing

  • Your personal health history

  • Any medicines you used during the pregnancy

  • Histories of past pregnancies

Newborn baby checkups

All babies are carefully checked at birth for signs of problems. The healthcare provider does a complete physical exam that includes every body system. Throughout the hospital stay, doctors, nurses, and other healthcare providers continually check a baby. They are looking for changes in health and signs of problems or illness. For example, they may look at the baby’s birthweight, measurements, and hearing screening results.

Child health history

Children are checked for their development milestones. This will help figure out if their development up to this point in time has been normal. Each age has certain abilities and behaviors tied to it. The healthcare provider will look at a number of things, such as your child’s rate of growth and speech development.

You may also have mentioned to the healthcare provider that the child being evaluated for a birth defect may seem different from your other children. For example, one child walked and talked later than the other.

Genetic testing

Genetic testing finds changes in chromosomes, genes, or proteins. Results of these tests are important when looking at a child for birth defects and their causes.