Genetic Abnormalities           

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Genetics

 

Although routine questions about genetic risk are asked at a woman’s first prenatal visit, ideally these questions should be asked before a couple attempts pregnancy.

 

 

What is prescribed?

 

Taking a 3-generation family history of both the patient and the person with whom she is considering having a child.

 

 

What is realistic?

Asking the following questions as a part of a routine visit with a reproductive age patient is usually sufficient.

 

“Do you, the potential father, or anyone in yours or the potential father’s family have a history of . . .

. . . mental retardation / learning disability?

. . . birth defects / maybe one they had surgery on?

. . . a known genetic disorder?

. . . recurrent pregnancy losses or stillbirths?”

If the patient knows of a risk, she will usually voice it at this time. If she does not know the answers to these questions, perhaps this will prompt her to investigate these issues more thoroughly before conceiving if that is possible.

 

What do I do if my patient answers “yes” to any of those questions?