Genetic counseling should be done before conception. This is impossible for
women who first seek medical care after conception but is simple for women
who specifically seek preconception care. Physicians providing primary care for
women with childbearing potential should discuss the importance of
preconception counseling when they discuss contraception with their patients.
Physicians should also consider obtaining a basic genetic disease history as
part of the initial history when the woman begins her care. If this initial history
demonstrates any risk factors, these can be discussed at the first patient visit.
Bringing up a genetic disease history at the first visit also gives patients an
opportunity to obtain information about their families’ genetic history, if
It is critical to document the information given to the patient about her own
specific risk factors: advanced maternal age, a history of genetic illness in her
family, or an ancestor in a high-risk group for genetic illness. The physician
must ensure that these risks are not lost in the boilerplate information that is
provided to every patient. Patient information sheets on specific, identified
risks should be differentiated from general information sheets. For example,
they could have a place at the top to write in the patient’s name and note that
she has a special risk for the condition.
As with other medically indicated testing, it is as important to document the
patient’s informed refusal as to document the patient’s informed consent to the
test. Unless the test is hazardous, it is much more likely that a poorly
documented refusal will result in litigation than will an equally poorly
documented consent. The physician should periodically review the original
recommendation with the patient to reinforce the importance of the test and to
allow the woman to reevaluate her decision to refuse it. It is not unusual for a
woman’s attitude toward testing for congenital disease to change as her
personal situation and attitude toward pregnancy change with time.