Testing for Birth Defects

Advances in medicine have allowed doctors to diagnose birth defects and genetic conditions before a baby is born.Testing_Birth_Defects

Pregnant women older than 35, those with a history of miscarriages or health problems, and women with a family history of certain disorders or birth defects are often tested for birth defects, says Dr. Irfan Ahmad, a CHOC Children’s neonatologist.

During pregnancy, mothers-to-be can undergo genetic counseling and genetic testing. Specially trained professionals can help prospective or expectant parents learn about genetic conditions they may face and their chances of having a child with a genetic condition. Genetic counseling and testing can also screen for diseases more common in certain ethnic groups. This helps people make informed decisions about family planning, testing and treatment.

Pregnant women can also have an ultrasound, an amniocentesis, or a blood test called a Quad Screen. Dr. Ahmad says these tests can help to diagnose birth defects including Down syndrome, heart conditions, neural tube defects such as spina bifida, and intestinal obstructions.

When diagnosed during pregnancy, some of these problems can be fixed or treated with surgery. Knowing ahead of time about a possible birth defect or other medical problem with the fetus allows the parent and their physicians to better prepare for the birth and treatments or surgery that may be needed, says Dr. Ahmad.

“You can also speak to a specialist, including a neonatologist and a surgeon, before the baby is born to offer counseling,” Dr. Ahmad says. “We can have a plan in place for when the baby is born and what we will do, so parents and physicians are prepared.”

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