What Every Expectant Couple Needs to Know About Genetics (Part 1)

Thankfully, most babies are born healthy, but every pregnancy is at risk for a birth defect. That is why is may be helpful to speak with a genetic counselor, a medical professional trained in assessing the risk for birth defects and genetic disorders, before or during your pregnancy.

Two common reasons that people seek prenatal genetic counseling are maternal age and a family history of a hereditary disease.

Maternal Age

As women age, their eggs age, and consequently, their risk of having a child with a chromosome abnormality increases. Down syndrome (also known as Trisomy 21) is the most common chromosomal abnormality and people with Down syndrome have varying degrees of mental retardation and physical birth defects.

In 2007, the American College of Obstetrics and Gynecology (ACOG) recommended that all pregnant women, regardless of age, be offered screening for Down syndrome, as well as the option of diagnostic testing. Diagnostic testing can tell with greater than 99% accuracy whether or not a pregnancy is affected with Down syndrome, Trisomy 18 and other chromosomal abnormalities, as well as certain genetic diseases (if indicated).

The decision to have genetic testing is highly personal and a genetic counselor may help a couple make an informed decision about whether or not to pursue genetic testing.

Family History of Genetic Disorder (or Conditions Associated with a Genetic Disorder)

Your family health history is one of the most important tools in assessing the risk to have a child with a birth defect and/or genetic disorder. A genetic counselor will ask questions about your family health history including your reproductive history, major health conditions, known genetic disorders, age of disease diagnosis, lifestyle factors and ethnicity.

Inherited Health’s Family Health History tool allows couples to securely input their family health history online and obtain a personalized assessment of the risks to their pregnancy. Risk assessment is also possible before a couple is even pregnant. By understanding your risks, you can make more informed healthcare decisions with your provider and be a better advocate for your baby’s health.

Published on: November 18, 2010
About the Author
Photo of Jordanna Joaquina MS CGC

Jordanna Joaquina, MS, CGC is a board certified genetic counselor. She is also Co-founder and Director of Genetics of Inherited Health, an online secure resource that combines family health history and hereditary disease risk assessment. Inherited Health helps families take steps to lower their disease risks together.

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