Genetic counseling: Fetal Dilantin-Keppra Syndrome

Exposure to Dilantin/Keppra In Utero

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? Has he/she suggested any changes to reduce the risk of problems -such as increased folic acid, reducing the number of anticonvulsant medications, etc...
 * 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. The medical literature suggests that reducing the number of anticonvulsant medications can decrease the risk.
 * 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.