# Handbook of Genetic Counseling/Fetal Dilantin-Keppra Syndrome

Fetal Dilantin/Keppra Syndrome

## Contracting

* Introductions and small talk
* Acknowledge recent hospitalization
* Confirm referring physician
* Assess understanding of the reason for the referral to genetics
* How much information has your OB given you about the possible effects of taking dilantin/ keppra while pregnant?
* Despite the increased risk of problems, there is a greater than 90% chance that the baby will be just fine.
* What concerns or questions do you have that you would like to discuss today?
* Outline session agenda
** Medical and family history questions
** Some of the possible effects that anticonvulsants can have on the pregnancy.
** Options available to you
** Discussion of concerns and questions

## Elicit Medical History

* Pregnancy/neonatal history:
** LMP: __________
** EDC: __________
** Today's gestational age: __________
** Have you had an ultrasound?
** Date of ultrasound: __________
** Results of ultrasound: __________
** How has the pregnancy been going so far?
** Seizures last week….any others
** What medications are you taking? Dilantin and Kepra
*** Amount and frequency of each. When did you start taking each?
** When did you begin having seizures?
** What type of seizures do you typically have?
** Any complications other than the seizures? Infections, colds, exposures etc. (Review and confirm information from the intake form at Bethesda)

## Elicit Family History

(3 generations)
* Anyone with seizure disorders?
* Anyone had: multiple SAB, SB, early deaths or babies that required surgery as infants?
* Anyone born with: birth defects or mental retardation
* Has anyone had early cancers (dx. <50) or chronic illnesses (heart disease, diabetes)

## Discuss possible side effects of taking anticonvulsants during pregnancy

* Stress importance of taking medicines- to keep you healthy and therefore the baby healthy
* Although it's very important for you to take these medications, sometimes seizure medications can have some effects on a developing baby.
* All pregnancies are at a 3-5% risk of birth defects and mental retardation
* Women who take anticonvulsants are at a 2-3x increased risk for some specific problems.
* This doesn't mean that the baby will be born with a problem, it just means that we know that based on your special circumstances, your pregnancy is at an increased risk.
* Some of the things that we sometimes see in children who have been exposed to dilantin during pregnancy include:
** Subtle changes in the face..such as the shape of the eyes and nose. These are usually such subtle features that you might not even recognize them
** Sometimes we see changes in the length of the fingers (slightly shortened) and the size of the fingernails (tiny)
** But sometimes children can be born with more apparent changes such as a cleft lip/palate or an open spine.
** Occasionally we see kids who have some delays in development ranging from borderline normal intelligence to mild mental retardation.
** There is a small risk of other birth defects dealing with the heart and intestinal tract.
* Keppra: this anticonvulsant hasn't been well studied but we do know that anticonvulsants in general have been associated with an increased risk of birth defects.
* Some children who have been exposed to anticonvulsants during pregnancy have several of these features and some have none. Just based on your history I can't tell you whether or not your baby will have some or none of these features, but we do have some options that we can offer you.

## Options

* Level II ultrasound- high resolution to look at the anatomy. ~16 weeks is a good time, but (20+ is ideal).
** High resolution u/s
** Done by an experienced technician
** Better to see more of the developing organs in greater detail
** Will be looking closely at the features of the baby….spine, heart, brain, shape of the head to make sure that these organs/tissues formed correctly.
** U/S is good to make us suspicious of some birth defects but it can't tell us everything. We won't know if there is mental deficiency by u/s. Also, u/s is dependent upon cooperation of the baby. Sometimes we just can't get a great view and may not be able to see everything we are looking for.
*** However, a normal ultrasound would certainly be reassuring.

## Psychosocial Assessment

* Who is living in your home?
* How are the childcare needs being met?
* Plans for additional children?
* Do you have any financial concerns?

## Follow-up

* Questions?
* Registry for patients taking anticonvulsants…
* Do you plan to breast feed the baby? Dilantin is compatible with breast feeding.

## Notes

The information in this outline was last updated in 2002.